Variant report

Variant	rs240066
Chromosome Location	chr22:22292995-22292996
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:429)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:22292372-22293015	GM12878	blood:	n/a	n/a
2	NRF1	chr22:22292370-22293102	GM12878	blood:	n/a	n/a
3	ZNF143	chr22:22292373-22293276	GM12878	blood:	n/a	chr22:22292550-22292560
4	STAT1	chr22:22292392-22293254	GM12878	blood:	n/a	chr22:22292480-22292487
5	RAD21	chr22:22292789-22293253	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:22292980-22293130	GM12872	blood:	n/a	n/a
7	E2F6	chr22:22292309-22293139	K562	blood:	n/a	chr22:22292589-22292600
8	RAD21	chr22:22292269-22293246	K562	blood:	n/a	chr22:22292515-22292529
9	YY1	chr22:22292362-22293185	SK-N-SH_RA	brain:	n/a	chr22:22292719-22292731
10	PML	chr22:22292307-22293288	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:22291904-22293221	U87	brain:	n/a	n/a
12	CTCF	chr22:22292888-22293219	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr22:22292980-22293130	WERI-Rb-1	eye:	n/a	n/a
14	HCFC1	chr22:22292263-22293405	K562	blood:	n/a	n/a
15	CTCF	chr22:22292316-22293285	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr22:22292305-22293378	K562	blood:	n/a	n/a
17	MTA3	chr22:22292152-22293306	GM12878	blood:	n/a	n/a
18	YY1	chr22:22292307-22293169	K562	blood:	n/a	chr22:22292719-22292731
19	CTCF	chr22:22292980-22293130	HEEpiC	esophagus:	n/a	n/a
20	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
21	POLR2A	chr22:22292342-22293203	MCF-7	breast:	n/a	n/a
22	SRF	chr22:22292294-22293200	K562	blood:	n/a	n/a
23	POLR2A	chr22:22292295-22293173	PFSK-1	brain:	n/a	n/a
24	SIN3AK20	chr22:22292886-22293141	A549	lung:	n/a	n/a
25	RAD21	chr22:22292359-22293284	H1-hESC	embryonic stem cell:	n/a	chr22:22292515-22292529
26	CHD2	chr22:22292085-22293419	K562	blood:	n/a	n/a
27	MYC	chr22:22292302-22293235	K562	blood:	n/a	n/a
28	POLR2A	chr22:22292279-22293154	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr22:22292843-22293258	SK-N-SH_RA	brain:	n/a	n/a
30	TBL1XR1	chr22:22292348-22293192	GM12878	blood:	n/a	n/a
31	TCF12	chr22:22292052-22293084	ECC-1	luminal epithelium:	n/a	n/a
32	CTCF	chr22:22292980-22293130	HFF-Myc	foreskin:	n/a	n/a
33	MAZ	chr22:22292225-22293332	K562	blood:	n/a	n/a
34	SMARCA4	chr22:22292423-22293452	K562	blood:	n/a	n/a
35	TBP	chr22:22292364-22293195	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP2	chr22:22291314-22293146	K562	blood:	n/a	n/a
37	GABPA	chr22:22292719-22293195	A549	lung:	n/a	n/a
38	POLR2A	chr22:22292323-22293369	K562	blood:	n/a	n/a
39	CTCF	chr22:22292980-22293130	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr22:22292357-22293034	GM12892	blood:	n/a	n/a
41	POLR2A	chr22:22292296-22293241	K562	blood:	n/a	n/a
42	MAX	chr22:22292018-22293192	ECC-1	luminal epithelium:	n/a	n/a
43	HDAC2	chr22:22292264-22293254	K562	blood:	n/a	n/a
44	POLR2A	chr22:22292540-22293074	HepG2	liver:	n/a	n/a
45	TAF1	chr22:22292456-22293175	H1-neurons	neurons:	n/a	n/a
46	YY1	chr22:22291926-22293632	K562	blood:	n/a	chr22:22292719-22292731
47	ZBTB7A	chr22:22292280-22293308	ECC-1	luminal epithelium:	n/a	n/a
48	ELF1	chr22:22292314-22293214	MCF-7	breast:	n/a	n/a
49	TCF12	chr22:22292987-22293143	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr22:22292528-22293139	HepG2	liver:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
2	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
3	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
4	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
5	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
6	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:
7	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:
8	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
9	chr22:22292721..22294523-chr22:22322967..22324899,2	K562	blood:
10	chr22:21996385..21999011-chr22:22290359..22293088,2	K562	blood:
11	chr22:22292079..22293713-chr22:22306781..22307947,29	K562	blood:
12	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
13	chr22:22081098..22081614-chr22:22292958..22293509,2	MCF-7	breast:
14	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
15	chr22:22221148..22221961-chr22:22292763..22293453,2	K562	blood:
16	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
17	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
18	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
19	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
20	chr22:22292568..22294613-chr22:22327761..22330729,3	K562	blood:
21	chr22:22292610..22297899-chr22:22316736..22322432,6	K562	blood:
22	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
23	chr22:22019913..22020714-chr22:22292936..22293527,2	K562	blood:
24	chr22:22006832..22007456-chr22:22292539..22293060,2	K562	blood:
25	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:
26	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
2	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3

No data

Variant related genes	Relation type
PPM1F	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000254075	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000112972	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000212102	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1005579	0.85[JPT][hapmap]
rs151680	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2027790	0.96[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs2083565	0.84[EUR][1000 genomes]
rs2283794	0.81[CEU][hapmap]
rs2329884	0.96[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs238783	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs239917	0.90[JPT][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.80[EUR][1000 genomes]
rs239918	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239927	0.81[CHD][hapmap];0.90[JPT][hapmap]
rs240049	0.89[CEU][hapmap]
rs240051	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs240053	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs240064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs240068	0.85[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs381523	0.84[MKK][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs381849	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56094396	0.83[EUR][1000 genomes]
rs5750113	0.81[CEU][hapmap]
rs5756052	0.81[EUR][1000 genomes]
rs5756306	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5756323	0.89[JPT][hapmap];0.87[TSI][hapmap]
rs5756324	0.82[JPT][hapmap]
rs5995257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5995269	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6000067	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6000070	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs738858	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs894095	0.96[CEU][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs94194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
16	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
17	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
19	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
20	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
21	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
23	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
24	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
25	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
26	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
27	nsv1058144	chr22:22226586-22294289	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
28	nsv1065415	chr22:22228669-22299281	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
29	nsv1056286	chr22:22248117-22298366	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
30	nsv469782	chr22:22249118-22423071	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
31	nsv834146	chr22:22249119-22423071	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
32	esv2422476	chr22:22256588-22296499	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
33	nsv1058282	chr22:22263018-22334795	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
34	nsv1065464	chr22:22263018-22335705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
35	nsv914472	chr22:22266577-22328349	Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
36	nsv914473	chr22:22266577-22349088	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
37	nsv1059773	chr22:22266799-22313185	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
38	nsv1059029	chr22:22266808-22333561	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
39	nsv1059606	chr22:22266808-22334414	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
40	nsv1067292	chr22:22266808-22335219	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
41	nsv1064533	chr22:22266808-22335705	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
42	nsv1067512	chr22:22272078-22327602	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
43	nsv1062823	chr22:22272078-22541865	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
44	nsv1062544	chr22:22272229-22334795	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
45	nsv1060252	chr22:22272229-22335705	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
46	nsv1056132	chr22:22272229-22440499	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
47	nsv914474	chr22:22272737-22328349	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
48	esv2756316	chr22:22275642-22570417	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
49	nsv828966	chr22:22277124-22350308	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
50	nsv432177	chr22:22282776-22570446	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs240066	TOP3BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs240066	PPM1F	cis	Whole Blood	GTEx
rs240066	TOP3BP1	cis	Adipose Subcutaneous	GTEx
rs240066	TOP3B	cis	parietal	SCAN
rs240066	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs240066	LL22NC03-86G7.1	cis	lung	GTEx
rs240066	LL22NC03-86G7.1	cis	Esophagus Muscularis	GTEx
rs240066	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs240066	LL22NC03-86G7.1	cis	Artery Aorta	GTEx
rs240066	psiTPTE22	cis	parietal	SCAN
rs240066	HSS00079487	cis	multi-tissue	Pritchard
rs240066	PPM1F	cis	uninvolved skin	skin_eQTL
rs240066	LL22NC03-86G7.1	cis	Skin Sun Exposed Lower leg	GTEx
rs240066	LL22NC03-86G7.1	cis	Artery Tibial	GTEx
rs240066	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs240066	TOP3BP1	cis	Artery Tibial	GTEx
rs240066	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs240066	TOP3B	cis	Whole Blood	GTEx
rs240066	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs240066	TOP3BP1	cis	Whole Blood	GTEx
rs240066	TOP3BP1	cis	Thyroid	GTEx
rs240066	PPM1F	cis	Liver	GTEx
rs240066	USP18	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22289800-22296200	Enhancers	Primary hematopoietic stem cells	blood
2	chr22:22291000-22294000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr22:22291000-22294600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:22291400-22293200	Flanking Active TSS	HSMM	muscle
5	chr22:22291400-22293400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr22:22291400-22293400	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr22:22291600-22293400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:22291600-22293400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:22291600-22293400	Flanking Active TSS	NH-A	brain
10	chr22:22291600-22293600	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr22:22291600-22293600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr22:22291800-22293200	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr22:22291800-22293200	Flanking Active TSS	Fetal Brain Female	brain
14	chr22:22292000-22293200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr22:22292000-22293200	Flanking Active TSS	Liver	Liver
16	chr22:22292000-22293200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr22:22292000-22293200	Transcr. at gene 5' and 3'	Right Atrium	heart
18	chr22:22292000-22293200	Flanking Active TSS	Dnd41	blood
19	chr22:22292000-22293200	Flanking Active TSS	HMEC	breast
20	chr22:22292000-22293200	Active TSS	HSMMtube	muscle
21	chr22:22292000-22293200	Flanking Active TSS	NHEK	skin
22	chr22:22292000-22293600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr22:22292200-22293000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr22:22292200-22293000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:22292200-22293000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr22:22292200-22293000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr22:22292200-22293000	Active TSS	Esophagus	oesophagus
28	chr22:22292200-22293000	Flanking Active TSS	Fetal Thymus	thymus
29	chr22:22292200-22293000	Active TSS	Ovary	ovary
30	chr22:22292200-22293000	Flanking Active TSS	K562	blood
31	chr22:22292200-22293200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr22:22292200-22293200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:22292200-22293200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr22:22292200-22293200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr22:22292200-22293200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr22:22292200-22293200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:22292200-22293200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr22:22292200-22293200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr22:22292200-22293200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr22:22292200-22293200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:22292200-22293200	Flanking Active TSS	Fetal Lung	lung
42	chr22:22292200-22293200	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr22:22292200-22293200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr22:22292200-22293200	Flanking Active TSS	Placenta	Placenta
45	chr22:22292200-22293400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:22292400-22293000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr22:22292400-22293000	Active TSS	Brain Anterior Caudate	brain
48	chr22:22292400-22293000	Active TSS	Colon Smooth Muscle	Colon
49	chr22:22292400-22293000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:22292400-22293000	Active TSS	Fetal Heart	heart

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