Variant report

Variant	rs5756323
Chromosome Location	chr22:22334795-22334796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr22:22334311-22334826	K562	blood:	n/a	n/a
2	POLR2A	chr22:22334773-22335256	K562	blood:	n/a	n/a
3	POLR2A	chr22:22334423-22335101	HepG2	liver:	n/a	n/a
4	HEY1	chr22:22334351-22337489	K562	blood:	n/a	n/a
5	POLR2A	chr22:22334516-22335326	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr22:22334223-22335519	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr22:22334396-22335534	K562	blood:	n/a	n/a
8	POLR2A	chr22:22334286-22336004	K562	blood:	n/a	n/a
9	POLR2A	chr22:22334265-22336027	K562	blood:	n/a	n/a
10	POLR2A	chr22:22334385-22335676	K562	blood:	n/a	n/a
11	POLR2A	chr22:22334476-22335498	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22219761..22223642-chr22:22333943..22337946,5	K562	blood:
2	chr22:22334793..22336573-chr22:22401804..22404443,2	K562	blood:
3	chr22:22326791..22328773-chr22:22331790..22334833,5	MCF-7	breast:
4	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
5	chr22:22333715..22337365-chr22:22437629..22441288,4	K562	blood:

No data

Variant related genes	Relation type
TOP3B	TF binding region
ENSG00000224086	Chromatin interaction
ENSG00000253823	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 202 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1005579	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11703249	0.84[JPT][hapmap]
rs2070507	0.84[JPT][hapmap]
rs2083564	0.84[JPT][hapmap]
rs2266974	0.83[JPT][hapmap]
rs2266979	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs238783	0.83[JPT][hapmap]
rs239917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs239918	0.83[EUR][1000 genomes]
rs239927	0.80[JPT][hapmap]
rs240064	0.89[JPT][hapmap];0.87[TSI][hapmap]
rs240066	0.89[JPT][hapmap];0.87[TSI][hapmap]
rs240067	0.84[JPT][hapmap]
rs240068	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs381523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs381849	0.82[EUR][1000 genomes]
rs5750301	0.84[JPT][hapmap]
rs5756076	0.84[JPT][hapmap]
rs5756181	0.90[ASN][1000 genomes]
rs5756253	0.89[JPT][hapmap]
rs5756306	0.89[JPT][hapmap];0.88[MKK][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs5756324	0.94[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs5756326	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	nsv588323	chr22:22284513-22573637	Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
41	nsv516394	chr22:22290403-22584255	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
42	nsv588324	chr22:22292995-22573637	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
43	nsv1060215	chr22:22292995-22573975	Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
44	esv2758537	chr22:22295103-22408604	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
45	esv2758826	chr22:22295103-22408604	Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
46	esv2422458	chr22:22296499-22573631	Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
47	nsv1058463	chr22:22297647-22468619	Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
48	nsv1060212	chr22:22297647-22573975	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
49	nsv1059964	chr22:22297647-22579822	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
50	nsv1065598	chr22:22297647-22597978	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs5756323	TOP3B	cis	Whole Blood	GTEx
rs5756323	PPM1F	cis	cerebellum	SCAN
rs5756323	TOP3B	cis	cerebellum	SCAN
rs5756323	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs5756323	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs5756323	TOP3BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs5756323	TOP3BP1	cis	Artery Tibial	GTEx
rs5756323	LL22NC03-86G7.1	cis	Whole Blood	GTEx
rs5756323	TOP3BP1	cis	Esophagus Muscularis	GTEx
rs5756323	TOP3BP1	cis	Esophagus Mucosa	GTEx
rs5756323	PPM1F	cis	uninvolved skin	skin_eQTL
rs5756323	TOP3BP1	cis	Muscle Skeletal	GTEx
rs5756323	PPM1F	cis	Whole Blood	GTEx
rs5756323	VPREB3	cis	parietal	SCAN
rs5756323	LL22NC03-86G7.1	cis	Skin Sun Exposed Lower leg	GTEx
rs5756323	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs5756323	TXNRD2	cis	parietal	SCAN
rs5756323	TOP3BP1	cis	lung	GTEx
rs5756323	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs5756323	LL22NC03-86G7.1	cis	lung	GTEx
rs5756323	psiTPTE22	cis	parietal	SCAN
rs5756323	TOP3BP1	cis	Nerve Tibial	GTEx
rs5756323	TOP3BP1	cis	Adipose Subcutaneous	GTEx
rs5756323	TOP3BP1	cis	Whole Blood	GTEx
rs5756323	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs5756323	LL22NC03-86G7.1	cis	Artery Aorta	GTEx
rs5756323	LL22NC03-86G7.1	cis	Artery Tibial	GTEx
rs5756323	TOP3BP1	cis	Thyroid	GTEx
rs5756323	CLTCL1	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22312200-22335800	Strong transcription	Fetal Stomach	stomach
2	chr22:22312400-22335000	Strong transcription	K562	blood
3	chr22:22312400-22335600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:22322000-22336600	Weak transcription	Small Intestine	intestine
5	chr22:22325000-22335600	Strong transcription	NHEK	skin
6	chr22:22325800-22335200	Weak transcription	Psoas Muscle	Psoas
7	chr22:22326000-22336400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr22:22326400-22335600	Weak transcription	HUVEC	blood vessel
9	chr22:22326600-22335400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr22:22328400-22335800	Weak transcription	NH-A	brain
11	chr22:22328600-22336200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:22328800-22335600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr22:22329200-22335800	Weak transcription	HMEC	breast
14	chr22:22329600-22335800	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:22329600-22335800	Weak transcription	Stomach Mucosa	stomach
16	chr22:22329800-22335600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:22329800-22335800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:22329800-22335800	Weak transcription	NHDF-Ad	bronchial
19	chr22:22329800-22336000	Weak transcription	Colonic Mucosa	Colon
20	chr22:22329800-22336200	Weak transcription	Brain Substantia Nigra	brain
21	chr22:22329800-22336200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr22:22329800-22336200	Weak transcription	Right Ventricle	heart
23	chr22:22329800-22336600	Weak transcription	Aorta	Aorta
24	chr22:22330000-22335000	Weak transcription	Brain Anterior Caudate	brain
25	chr22:22330000-22335000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr22:22330000-22335000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr22:22330000-22335200	Weak transcription	Brain Angular Gyrus	brain
28	chr22:22330000-22335400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:22330000-22335400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:22330000-22335600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:22330000-22335600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:22330000-22335600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr22:22330000-22335800	Weak transcription	Fetal Kidney	kidney
34	chr22:22330000-22336200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:22330000-22336200	Weak transcription	Fetal Lung	lung
36	chr22:22330000-22336200	Weak transcription	A549	lung
37	chr22:22330200-22335000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr22:22330200-22335000	Weak transcription	Brain Germinal Matrix	brain
39	chr22:22330200-22335400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr22:22330200-22335400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:22330200-22335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:22330200-22335800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr22:22330200-22335800	Weak transcription	Fetal Intestine Large	intestine
44	chr22:22330200-22336000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr22:22330200-22336200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr22:22330200-22336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:22330200-22336200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr22:22330200-22336400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr22:22330400-22335000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr22:22330400-22335000	Weak transcription	Liver	Liver

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