Variant report

Variant	rs12574
Chromosome Location	chr22:21354158-21354159
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:93)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:93 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ETS1	chr22:21353799-21354694	K562	blood:	n/a	n/a
2	POLR2A	chr22:21353757-21355290	GM12878	blood:	n/a	n/a
3	JUND	chr22:21352568-21354310	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr22:21351465-21354315	U87	brain:	n/a	n/a
5	POLR2A	chr22:21351995-21354604	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr22:21350403-21357566	K562	blood:	n/a	n/a
7	POLR2A	chr22:21350655-21357590	GM12892	blood:	n/a	n/a
8	POLR2A	chr22:21350592-21357534	K562	blood:	n/a	n/a
9	POLR2A	chr22:21351085-21357562	GM12892	blood:	n/a	n/a
10	POLR2A	chr22:21350884-21357505	GM19193	blood:	n/a	n/a
11	HEY1	chr22:21350856-21357640	K562	blood:	n/a	n/a
12	POLR2A	chr22:21350919-21354735	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr22:21350523-21357942	HepG2	liver:	n/a	n/a
14	NR2F2	chr22:21351848-21358604	K562	blood:	n/a	n/a
15	POLR2A	chr22:21350427-21355413	PFSK-1	brain:	n/a	n/a
16	THAP1	chr22:21353765-21356840	K562	blood:	n/a	n/a
17	TEAD4	chr22:21351124-21358613	K562	blood:	n/a	n/a
18	CCNT2	chr22:21353978-21354411	K562	blood:	n/a	n/a
19	POLR2A	chr22:21352289-21354915	HUVEC	blood vessel:	n/a	n/a
20	USF2	chr22:21351487-21354279	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr22:21350960-21354426	PBDE	blood:	n/a	n/a
22	POLR2A	chr22:21352106-21354566	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr22:21350728-21357391	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr22:21351027-21356885	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:21350379-21357553	GM12878	blood:	n/a	n/a
26	POLR2A	chr22:21352032-21354192	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr22:21352953-21354364	GM15510	blood:	n/a	n/a
28	POLR2A	chr22:21351167-21354928	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr22:21351465-21354351	U87	brain:	n/a	n/a
30	POLR2A	chr22:21350363-21357555	U87	brain:	n/a	n/a
31	POLR2A	chr22:21353322-21355330	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr22:21351306-21357025	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr22:21348630-21357720	K562	blood:	n/a	n/a
34	PBX3	chr22:21351881-21354540	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr22:21350882-21356798	GM12878	blood:	n/a	n/a
36	CHD2	chr22:21354109-21354180	K562	blood:	n/a	n/a
37	POLR2A	chr22:21351209-21354318	Raji	blood:	n/a	n/a
38	PBX3	chr22:21351860-21354460	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr22:21342517-21357627	K562	blood:	n/a	n/a
40	POLR2A	chr22:21352201-21354193	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr22:21351504-21354816	GM18951	blood:	n/a	n/a
42	POLR2A	chr22:21352717-21354330	HCT-116	colon:	n/a	n/a
43	POLR2A	chr22:21353568-21355303	GM12878	blood:	n/a	n/a
44	HEY1	chr22:21350956-21357584	K562	blood:	n/a	n/a
45	POLR2A	chr22:21350932-21357482	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr22:21350149-21357681	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr22:21351304-21354398	HEK293	kidney:	n/a	n/a
48	POLR2A	chr22:21351965-21355105	HUVEC	blood vessel:	n/a	n/a
49	ETS1	chr22:21352610-21357604	K562	blood:	n/a	n/a
50	POLR2A	chr22:21347121-21357475	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21238848..21241293-chr22:21352234..21354719,2	K562	blood:
2	chr22:21352878..21354561-chr5:137804015..137805732,2	K562	blood:
3	chr22:21269741..21273292-chr22:21353235..21356764,8	K562	blood:
4	chr22:21269815..21273792-chr22:21353783..21357974,6	MCF-7	breast:
5	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
6	chr22:21353502..21355060-chr6:27101907..27104639,2	K562	blood:
7	chr22:21079362..21081686-chr22:21351714..21354255,3	K562	blood:
8	chr22:21209752..21215098-chr22:21353821..21358065,10	K562	blood:

No data

Variant related genes	Relation type
THAP7-AS1	TF binding region
ENSG00000099942	Chromatin interaction
ENSG00000241973	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000099940	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1131176	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12166665	1.00[AMR][1000 genomes]
rs12169760	0.89[AMR][1000 genomes]
rs9620721	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056614	chr22:20470598-21462724	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv491637	chr22:20659547-21440514	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	102 gene(s)	inside rSNPs	diseases
3	nsv916634	chr22:20659547-21464119	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
4	nsv533942	chr22:20659547-21505417	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
5	nsv529472	chr22:20659547-21561514	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer 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	107 gene(s)	inside rSNPs	diseases
6	nsv914390	chr22:20697466-21460008	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv588291	chr22:20698139-21461274	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic 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 miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv917647	chr22:20708889-21440515	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
9	nsv531742	chr22:20708890-21407690	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
10	nsv533852	chr22:20708890-21561514	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS 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 miRNA target site	104 gene(s)	inside rSNPs	diseases
11	nsv1061867	chr22:20716924-21462446	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
12	nsv1058870	chr22:20716924-21567219	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
13	nsv918225	chr22:20716924-21611338	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
14	nsv531744	chr22:20718170-21427936	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
15	nsv915954	chr22:20732437-21505417	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
16	nsv948669	chr22:20732809-21461607	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
17	nsv531746	chr22:20733427-21505417	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
18	nsv588294	chr22:20733495-21365384	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
19	nsv588295	chr22:20733495-21462353	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
20	nsv588296	chr22:20733495-21465780	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised 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	99 gene(s)	inside rSNPs	diseases
21	nsv1056065	chr22:20734244-21460658	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
22	nsv544586	chr22:20734244-21460658	Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer 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	99 gene(s)	inside rSNPs	diseases
23	nsv1067074	chr22:20739124-21440654	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
24	nsv544587	chr22:20739124-21440654	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
25	nsv1066482	chr22:20739125-21440655	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
26	nsv544588	chr22:20739125-21440655	Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
27	nsv1059978	chr22:20739324-21440515	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
28	nsv544591	chr22:20739324-21440515	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	99 gene(s)	inside rSNPs	diseases
29	nsv949306	chr22:20742450-21461607	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
30	nsv523162	chr22:20743536-21462353	Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	99 gene(s)	inside rSNPs	diseases
31	nsv1056565	chr22:20745762-21460658	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
32	nsv529335	chr22:20748976-21499971	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
33	nsv533337	chr22:20754407-21440515	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
34	nsv918090	chr22:20754421-21505417	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
35	nsv491620	chr22:20754422-21440514	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
36	nsv1067639	chr22:20754422-21505417	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
37	nsv529720	chr22:20754422-21505417	Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer 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	99 gene(s)	inside rSNPs	diseases
38	nsv995094	chr22:20895155-21374512	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
39	nsv588297	chr22:20913757-21465780	Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
40	nsv917525	chr22:20918549-21440514	Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	76 gene(s)	inside rSNPs	diseases
41	esv2763693	chr22:20935469-21465835	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS 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 miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
42	nsv588299	chr22:20954760-21462353	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
43	nsv1064472	chr22:20958983-21440515	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	75 gene(s)	inside rSNPs	diseases
44	nsv544594	chr22:20958983-21440515	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
45	nsv530673	chr22:20958984-21379958	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
46	nsv1056343	chr22:21007607-21460658	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
47	nsv530455	chr22:21025654-21505417	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
48	nsv530675	chr22:21045038-21455556	Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
49	nsv1065617	chr22:21059671-21465835	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
50	nsv949029	chr22:21060359-21461607	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12574	ENSG00000184436	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21337600-21354200	Strong transcription	Fetal Intestine Small	intestine
2	chr22:21337600-21354400	Weak transcription	Fetal Heart	heart
3	chr22:21337600-21354600	Weak transcription	Fetal Kidney	kidney
4	chr22:21337600-21354600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:21337800-21354200	Weak transcription	Hela-S3	cervix
6	chr22:21337800-21354400	Strong transcription	Fetal Muscle Leg	muscle
7	chr22:21337800-21354800	Strong transcription	Thymus	Thymus
8	chr22:21337800-21355200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:21337800-21355200	Weak transcription	Small Intestine	intestine
10	chr22:21338000-21354800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:21338200-21354200	Strong transcription	Placenta	Placenta
12	chr22:21338200-21354400	Strong transcription	NHLF	lung
13	chr22:21338200-21354600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:21338400-21354200	Strong transcription	Lung	lung
15	chr22:21338400-21354600	Strong transcription	Brain Cingulate Gyrus	brain
16	chr22:21338400-21354600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr22:21340000-21354400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr22:21341600-21354600	Strong transcription	NHEK	skin
19	chr22:21341800-21354600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:21342600-21354400	Weak transcription	NHDF-Ad	bronchial
21	chr22:21344200-21354200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:21344200-21354600	Weak transcription	NH-A	brain
23	chr22:21344400-21354200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:21344400-21354200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:21344400-21354200	Strong transcription	Adipose Nuclei	Adipose
26	chr22:21344400-21354400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:21344400-21354600	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:21344600-21354600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:21344600-21354600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr22:21344800-21354200	Strong transcription	Primary T cells from cord blood	blood
31	chr22:21344800-21354400	Strong transcription	Brain Substantia Nigra	brain
32	chr22:21345000-21354200	Strong transcription	Right Ventricle	heart
33	chr22:21345000-21354400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:21345000-21354600	Strong transcription	Fetal Thymus	thymus
35	chr22:21345200-21354400	Strong transcription	Fetal Intestine Large	intestine
36	chr22:21345600-21354400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:21346800-21354200	Weak transcription	Psoas Muscle	Psoas
38	chr22:21346800-21355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:21347000-21354200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr22:21347400-21354200	Weak transcription	HMEC	breast
41	chr22:21347400-21355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:21348000-21354600	Weak transcription	HSMMtube	muscle
43	chr22:21348000-21354800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr22:21348600-21354600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr22:21349000-21356000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:21349200-21355400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:21349600-21354600	Strong transcription	Left Ventricle	heart
48	chr22:21349600-21354600	Strong transcription	Osteobl	bone
49	chr22:21350200-21354800	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr22:21350400-21354600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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