Variant report

Variant	rs1005579
Chromosome Location	chr22:22300941-22300942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22067733..22069469-chr22:22300683..22303045,3	MCF-7	breast:
2	chr22:22219546..22221587-chr22:22300415..22302914,3	K562	blood:
3	chr22:22089169..22091453-chr22:22299864..22302320,3	K562	blood:
4	chr22:22129393..22132158-chr22:22299862..22301892,2	K562	blood:
5	chr22:22018538..22022494-chr22:22299554..22303122,4	K562	blood:
6	chr22:22129393..22130914-chr22:22299587..22301892,2	K562	blood:
7	chr22:22112619..22115133-chr22:22299104..22302068,3	K562	blood:
8	chr22:22299166..22301404-chr22:22302950..22305296,2	MCF-7	breast:
9	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
10	chr22:22296163..22299761-chr22:22300679..22303627,3	MCF-7	breast:
11	chr22:22221788..22224582-chr22:22300522..22304100,3	K562	blood:
12	chr22:22106788..22109532-chr22:22300482..22301999,2	K562	blood:
13	chr22:22068963..22071183-chr22:22300868..22303636,2	K562	blood:
14	chr22:22251681..22254057-chr22:22299774..22302552,2	K562	blood:
15	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
16	chr22:22067136..22068163-chr22:22300753..22302623,8	K562	blood:
17	chr22:22120700..22123218-chr22:22298408..22301361,2	K562	blood:
18	chr22:22292070..22293697-chr22:22300818..22303043,18	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100027	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11703249	0.84[JPT][hapmap]
rs2070507	0.84[JPT][hapmap]
rs2083564	0.84[JPT][hapmap]
rs2266974	0.83[JPT][hapmap]
rs2266979	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs238783	0.83[JPT][hapmap]
rs239917	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240064	0.85[JPT][hapmap];0.84[MKK][hapmap]
rs240066	0.85[JPT][hapmap]
rs240067	0.84[JPT][hapmap]
rs240068	0.89[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381523	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5750301	0.84[JPT][hapmap]
rs5756076	0.84[JPT][hapmap]
rs5756181	0.99[ASN][1000 genomes]
rs5756253	0.89[JPT][hapmap]
rs5756306	0.89[JPT][hapmap]
rs5756323	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]
rs5756324	0.88[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs5756326	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:67 , 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	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs1005579	VPREB3	cis	parietal	SCAN
rs1005579	TOP3BP1	cis	Thyroid	GTEx
rs1005579	psiTPTE22	cis	parietal	SCAN
rs1005579	LL22NC03-86G7.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1005579	LL22NC03-86G7.1	cis	Whole Blood	GTEx
rs1005579	LL22NC03-86G7.1	cis	Artery Aorta	GTEx
rs1005579	PPM1F	cis	Whole Blood	GTEx
rs1005579	TOP3B	cis	cerebellum	SCAN
rs1005579	TOP3BP1	cis	Esophagus Mucosa	GTEx
rs1005579	TOP3BP1	cis	Nerve Tibial	GTEx
rs1005579	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs1005579	TXNRD2	cis	parietal	SCAN
rs1005579	LL22NC03-86G7.1	cis	lung	GTEx
rs1005579	TOP3BP1	cis	Skin Sun Exposed Lower leg	GTEx
rs1005579	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs1005579	LZTR1	cis	cerebellum	SCAN
rs1005579	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs1005579	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs1005579	TOP3BP1	cis	Whole Blood	GTEx
rs1005579	TOP3BP1	cis	Artery Tibial	GTEx
rs1005579	TOP3BP1	cis	Muscle Skeletal	GTEx
rs1005579	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs1005579	TOP3BP1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22293000-22301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:22293000-22306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:22293000-22306400	Weak transcription	Small Intestine	intestine
4	chr22:22293200-22301000	Genic enhancers	Lung	lung
5	chr22:22293200-22301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:22293200-22301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:22293200-22301600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:22293200-22301800	Genic enhancers	Spleen	Spleen
9	chr22:22293200-22305400	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr22:22293200-22306000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:22293400-22302600	Genic enhancers	Fetal Muscle Leg	muscle
12	chr22:22293600-22301600	Strong transcription	Fetal Intestine Small	intestine
13	chr22:22294600-22301000	Strong transcription	Brain Germinal Matrix	brain
14	chr22:22295000-22301000	Strong transcription	Fetal Intestine Large	intestine
15	chr22:22296200-22301000	Genic enhancers	Primary hematopoietic stem cells	blood
16	chr22:22297200-22301400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:22297200-22302400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr22:22297200-22306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr22:22297200-22306000	Weak transcription	GM12878-XiMat	blood
20	chr22:22297400-22301200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:22297600-22301000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:22297600-22301200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:22297800-22301200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:22297800-22304400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:22298000-22301000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:22298200-22301000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:22298200-22301000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:22298200-22301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:22298200-22301000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:22298200-22301400	Weak transcription	Stomach Mucosa	stomach
31	chr22:22298400-22301000	Strong transcription	Brain Anterior Caudate	brain
32	chr22:22298800-22301200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr22:22298800-22301200	Weak transcription	Fetal Heart	heart
34	chr22:22299000-22301200	Strong transcription	NHLF	lung
35	chr22:22299200-22301200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:22299400-22301000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:22299600-22301200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr22:22299600-22301400	Weak transcription	NHDF-Ad	bronchial
39	chr22:22299600-22303800	Weak transcription	Primary B cells from cord blood	blood
40	chr22:22299600-22306000	Weak transcription	Hela-S3	cervix
41	chr22:22299800-22301200	Weak transcription	NH-A	brain
42	chr22:22299800-22301400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:22299800-22301800	Enhancers	Psoas Muscle	Psoas
44	chr22:22299800-22306000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr22:22300000-22301000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:22300000-22301200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:22300000-22301600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:22300000-22301800	Weak transcription	Fetal Kidney	kidney
49	chr22:22300000-22302400	Weak transcription	Fetal Brain Male	brain
50	chr22:22300000-22305200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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