Variant report

Variant	rs735244
Chromosome Location	chr22:22292099-22292100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:22292060-22292210	HFF-Myc	foreskin:	n/a	n/a
2	POLR2A	chr22:22291904-22293221	U87	brain:	n/a	n/a
3	STAT3	chr22:22292094-22292499	MCF10A-Er-Src	breast:	n/a	chr22:22292258-22292270 chr22:22292117-22292124 chr22:22292480-22292487
4	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
5	CEBPB	chr22:22292047-22292686	IMR90	lung:	n/a	n/a
6	CHD2	chr22:22292085-22293419	K562	blood:	n/a	n/a
7	TCF12	chr22:22292052-22293084	ECC-1	luminal epithelium:	n/a	n/a
8	SP2	chr22:22291314-22293146	K562	blood:	n/a	n/a
9	MAX	chr22:22292018-22293192	ECC-1	luminal epithelium:	n/a	n/a
10	YY1	chr22:22291926-22293632	K562	blood:	n/a	chr22:22292719-22292731
11	MXI1	chr22:22290796-22293808	IMR90	lung:	n/a	n/a
12	ETS1	chr22:22291655-22294008	K562	blood:	n/a	n/a
13	CEBPB	chr22:22292098-22293389	K562	blood:	n/a	n/a
14	THAP1	chr22:22291324-22294409	K562	blood:	n/a	n/a
15	SIN3AK20	chr22:22291867-22293614	K562	blood:	n/a	n/a
16	STAT5A	chr22:22292087-22293498	K562	blood:	n/a	chr22:22292258-22292270 chr22:22292117-22292124 chr22:22292480-22292487
17	POLR2A	chr22:22291986-22293290	IMR90	lung:	n/a	n/a
18	CTCF	chr22:22292060-22292210	GM12870	blood:	n/a	n/a
19	TRIM28	chr22:22291984-22293555	K562	blood:	n/a	n/a
20	CCNT2	chr22:22292041-22293483	K562	blood:	n/a	n/a
21	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
22	ELF1	chr22:22291969-22293197	K562	blood:	n/a	chr22:22292071-22292083
23	POLR2A	chr22:22292083-22293199	U87	brain:	n/a	n/a
24	TEAD4	chr22:22292007-22294346	K562	blood:	n/a	n/a
25	E2F6	chr22:22291972-22292302	K562	blood:	n/a	n/a
26	ETS1	chr22:22291746-22293943	K562	blood:	n/a	n/a
27	SETDB1	chr22:22291726-22293611	K562	blood:	n/a	n/a
28	FOS	chr22:22292091-22293124	HUVEC	blood vessel:	n/a	n/a
29	NR2F2	chr22:22291671-22295001	K562	blood:	n/a	n/a
30	ZNF263	chr22:22291620-22294404	K562	blood:	n/a	chr22:22292503-22292512
31	POLR2A	chr22:22291328-22294524	K562	blood:	n/a	n/a
32	CTCF	chr22:22291856-22293800	K562	blood:	n/a	n/a
33	POLR2A	chr22:22291997-22293353	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr22:22291887-22293589	HUVEC	blood vessel:	n/a	n/a
35	MYC	chr22:22292083-22293235	MCF10A-Er-Src	breast:	n/a	n/a
36	SMC3	chr22:22291622-22293423	SK-N-SH	brain:	n/a	chr22:22291896-22291904
37	POLR2A	chr22:22291858-22293390	HUVEC	blood vessel:	n/a	n/a
38	TEAD4	chr22:22292084-22293139	ECC-1	luminal epithelium:	n/a	n/a
39	HEY1	chr22:22292015-22294049	K562	blood:	n/a	n/a
40	HMGN3	chr22:22291890-22293528	K562	blood:	n/a	n/a
41	NR2F2	chr22:22292086-22294297	K562	blood:	n/a	n/a
42	HDAC2	chr22:22290658-22294482	K562	blood:	n/a	chr22:22290737-22290756 chr22:22291313-22291327
43	ELF1	chr22:22291989-22293413	K562	blood:	n/a	chr22:22292071-22292083
44	GABPA	chr22:22291341-22294534	K562	blood:	n/a	n/a
45	TEAD4	chr22:22290295-22293879	K562	blood:	n/a	n/a
46	POLR2A	chr22:22291859-22292848	ProgFib	skin:	n/a	n/a
47	POLR2A	chr22:22292057-22294567	K562	blood:	n/a	n/a
48	MAX	chr22:22292095-22293859	K562	blood:	n/a	n/a
49	ZBTB7A	chr22:22291628-22293189	K562	blood:	n/a	n/a
50	POLR2A	chr22:22291808-22293409	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22290645..22292893-chr22:22385193..22387835,2	K562	blood:
2	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
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	chr22:22037368..22040740-chr22:22291546..22294238,3	K562	blood:
7	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
8	chr22:21996385..21999011-chr22:22290359..22293088,2	K562	blood:
9	chr22:22290671..22292913-chr22:22304916..22307695,3	MCF-7	breast:
10	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
11	chr22:21996385..21999252-chr22:22290359..22292966,2	K562	blood:
12	chr22:22292079..22293713-chr22:22306781..22307947,29	K562	blood:
13	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
14	chr22:22291464..22293326-chr22:22305978..22308201,2	MCF-7	breast:
15	chr22:22130737..22132240-chr22:22289657..22292393,2	K562	blood:
16	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
17	chr22:22291801..22294589-chr22:22413617..22415961,3	K562	blood:
18	chr22:22014013..22016208-chr22:22290767..22292528,2	K562	blood:
19	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
20	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
21	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224086	TF binding region
ENSG00000100027	Chromatin interaction
ENSG00000254075	Chromatin interaction
ENSG00000211637	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000254355	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000100038	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1530229	1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	1.00[ASN][1000 genomes]
rs17821500	1.00[ASN][1000 genomes]
rs17821818	1.00[ASN][1000 genomes]
rs17821866	1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329886	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs238781	1.00[ASN][1000 genomes]
rs238782	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239914	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239915	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239916	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239920	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240065	1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34239349	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412050	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41283227	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs413815	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649326	1.00[ASN][1000 genomes]
rs56138298	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56226933	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5999842	1.00[ASN][1000 genomes]
rs6000236	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61757982	1.00[ASN][1000 genomes]
rs61763381	1.00[ASN][1000 genomes]
rs61763388	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs8136405	1.00[ASN][1000 genomes]
rs8140233	1.00[ASN][1000 genomes]
rs8142650	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:52 , 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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs735244	PI4KA,TOP3B	cis	cerebellar cortex	BrainEAC

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22279800-22292400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:22280400-22292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:22280400-22292200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr22:22282600-22292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:22282600-22292200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:22282600-22292600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:22284200-22292200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:22285800-22292200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:22285800-22292600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:22288000-22292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:22288200-22292200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:22289400-22292200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:22289400-22292600	Enhancers	Primary B cells from peripheral blood	blood
14	chr22:22289600-22292600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr22:22289600-22292600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:22289800-22292200	Enhancers	Primary B cells from cord blood	blood
17	chr22:22289800-22292600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr22:22289800-22296200	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:22290400-22292600	Enhancers	Spleen	Spleen
20	chr22:22290600-22292600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:22290800-22292200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:22290800-22292200	Enhancers	Fetal Lung	lung
23	chr22:22290800-22292200	Enhancers	Fetal Thymus	thymus
24	chr22:22290800-22292200	Enhancers	Stomach Mucosa	stomach
25	chr22:22290800-22292200	Genic enhancers	K562	blood
26	chr22:22290800-22292400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr22:22290800-22292800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr22:22291000-22292200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:22291000-22292200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:22291000-22292200	Enhancers	Fetal Heart	heart
31	chr22:22291000-22292200	Enhancers	Ovary	ovary
32	chr22:22291000-22292200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr22:22291000-22292400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr22:22291000-22292400	Enhancers	Left Ventricle	heart
35	chr22:22291000-22292600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:22291000-22292600	Enhancers	Gastric	stomach
37	chr22:22291000-22292800	Enhancers	Fetal Brain Male	brain
38	chr22:22291000-22294000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr22:22291000-22294600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:22291200-22292200	Weak transcription	Fetal Kidney	kidney
41	chr22:22291200-22292200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr22:22291200-22292200	Enhancers	Right Ventricle	heart
43	chr22:22291400-22292200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr22:22291400-22292200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr22:22291400-22292200	Enhancers	Primary T cells fromperipheralblood	blood
46	chr22:22291400-22292200	Enhancers	Fetal Intestine Large	intestine
47	chr22:22291400-22292400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:22291400-22292400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:22291400-22292400	Enhancers	GM12878-XiMat	blood
50	chr22:22291400-22292600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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