Variant report

Variant	rs12170538
Chromosome Location	chr22:21400282-21400283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr22:21399769-21400391	GM12878	blood:	n/a	n/a
2	CREB1	chr22:21399892-21400345	A549	lung:	n/a	n/a
3	SP1	chr22:21399833-21400425	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr22:21399741-21400532	K562	blood:	n/a	chr22:21400218-21400227
5	ZNF384	chr22:21399996-21400305	K562	blood:	n/a	n/a
6	SP1	chr22:21399742-21400502	HCT-116	colon:	n/a	chr22:21400421-21400430 chr22:21400420-21400432 chr22:21400420-21400432
7	ETS1	chr22:21399321-21400591	K562	blood:	n/a	chr22:21399481-21399494
8	MXI1	chr22:21399017-21400929	SK-N-SH	brain:	n/a	chr22:21400065-21400080 chr22:21400093-21400108 chr22:21400067-21400082
9	POLR2A	chr22:21399731-21400504	H1-neurons	neurons:	n/a	n/a
10	IRF1	chr22:21399946-21400363	K562	blood:	n/a	chr22:21400127-21400136
11	MAX	chr22:21399410-21400384	K562	blood:	n/a	chr22:21399964-21399974
12	SP1	chr22:21399805-21400484	K562	blood:	n/a	chr22:21400421-21400430 chr22:21400420-21400432 chr22:21400420-21400432
13	FOXM1	chr22:21399819-21400479	ECC-1	luminal epithelium:	n/a	n/a
14	CBX3	chr22:21399202-21400434	K562	blood:	n/a	n/a
15	MXI1	chr22:21399749-21400307	K562	blood:	n/a	chr22:21400065-21400080 chr22:21400093-21400108 chr22:21400067-21400082
16	HDAC2	chr22:21399792-21400307	K562	blood:	n/a	n/a
17	RUNX3	chr22:21399867-21400367	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr22:21399902-21400358	PANC-1	pancreas:	n/a	n/a
19	NFYB	chr22:21399844-21400505	K562	blood:	n/a	n/a
20	SIN3A	chr22:21399699-21400708	H1-hESC	embryonic stem cell:	n/a	chr22:21400111-21400122
21	CHD2	chr22:21399914-21400327	K562	blood:	n/a	chr22:21400035-21400045
22	PBX3	chr22:21399886-21400382	A549	lung:	n/a	chr22:21400130-21400150
23	ATF3	chr22:21399644-21400588	K562	blood:	n/a	chr22:21400218-21400227
24	NR2F2	chr22:21398923-21400657	K562	blood:	n/a	n/a
25	SIX5	chr22:21399929-21400290	K562	blood:	n/a	n/a
26	SP2	chr22:21399870-21400354	H1-hESC	embryonic stem cell:	n/a	chr22:21400129-21400152
27	SP1	chr22:21399793-21400417	A549	lung:	n/a	n/a
28	ZBTB7A	chr22:21399824-21400616	K562	blood:	n/a	n/a
29	POU2F2	chr22:21399921-21400311	GM12878	blood:	n/a	n/a
30	TBP	chr22:21399922-21400344	H1-hESC	embryonic stem cell:	n/a	n/a
31	SREBP1	chr22:21399867-21400295	HepG2	liver:	n/a	chr22:21400092-21400106 chr22:21400093-21400107 chr22:21400066-21400080
32	SP1	chr22:21399927-21400398	K562	blood:	n/a	n/a
33	PBX3	chr22:21399848-21400419	A549	lung:	n/a	chr22:21400130-21400150
34	NFYA	chr22:21399717-21400497	K562	blood:	n/a	n/a
35	IRF3	chr22:21399971-21400403	GM12878	blood:	n/a	chr22:21400127-21400136
36	MAFK	chr22:21399675-21400311	K562	blood:	n/a	n/a
37	RCOR1	chr22:21399860-21400376	K562	blood:	n/a	n/a
38	REST	chr22:21399364-21400981	H1-neurons	neurons:	n/a	chr22:21400133-21400146
39	E2F6	chr22:21399865-21400339	K562	blood:	n/a	n/a
40	TBL1XR1	chr22:21399935-21400363	K562	blood:	n/a	n/a
41	SP1	chr22:21399732-21400492	HCT-116	colon:	n/a	chr22:21400421-21400430 chr22:21400420-21400432 chr22:21400420-21400432
42	CREB1	chr22:21399892-21400360	H1-hESC	embryonic stem cell:	n/a	n/a
43	THAP1	chr22:21399797-21400649	K562	blood:	n/a	n/a
44	POLR2A	chr22:21399681-21400537	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr22:21400164-21400394	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr22:21398591-21400616	U87	brain:	n/a	n/a
47	CHD2	chr22:21399955-21400294	GM12878	blood:	n/a	chr22:21400035-21400045
48	POLR2A	chr22:21398591-21400610	U87	brain:	n/a	n/a
49	ELK1	chr22:21400032-21400352	K562	blood:	n/a	n/a
50	SIN3AK20	chr22:21399798-21400422	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:21363016..21365671-chr22:21398364..21400797,2	MCF-7	breast:

Variant related genes	Relation type
P2RX6P	TF binding region
ENSG00000099957	Chromatin interaction
ENSG00000161149	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12168111	0.92[CEU][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12170567	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12170902	0.83[AFR][1000 genomes]
rs5997219	0.92[CEU][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73164864	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164866	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73164868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164873	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625422	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:83 , 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	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	nsv531749	chr22:21065882-21455556	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
49	nsv916667	chr22:21065882-21505417	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS 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	66 gene(s)	inside rSNPs	diseases
50	esv3446418	chr22:21073795-21824610	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12170538	LOC400891	cis	brain	BrainEAC

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21397400-21400600	Enhancers	Spleen	Spleen
2	chr22:21397800-21400600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:21397800-21400600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr22:21398200-21400600	Active TSS	Psoas Muscle	Psoas
5	chr22:21398600-21400400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr22:21398600-21400600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr22:21398600-21400600	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr22:21398800-21400400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr22:21398800-21400600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr22:21399000-21400600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:21399200-21400600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr22:21399200-21400600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr22:21399200-21400600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:21399200-21400600	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr22:21399400-21400400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:21399400-21400400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr22:21399400-21400400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:21399400-21400400	Enhancers	Liver	Liver
19	chr22:21399400-21400400	Enhancers	Gastric	stomach
20	chr22:21399400-21400600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:21399400-21400600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:21399400-21400600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:21399400-21400600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr22:21399400-21400600	Enhancers	Stomach Mucosa	stomach
25	chr22:21399400-21400600	Flanking Active TSS	NHEK	skin
26	chr22:21399400-21400800	Flanking Active TSS	HSMMtube	muscle
27	chr22:21399600-21400400	Active TSS	Aorta	Aorta
28	chr22:21399600-21400400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr22:21399600-21400400	Bivalent Enhancer	Thymus	Thymus
30	chr22:21399600-21400400	Flanking Active TSS	K562	blood
31	chr22:21399600-21400600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr22:21399600-21400600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:21399600-21400600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr22:21399600-21400600	Flanking Active TSS	Colonic Mucosa	Colon
35	chr22:21399600-21400600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr22:21399600-21400600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr22:21399600-21400600	Transcr. at gene 5' and 3'	Right Atrium	heart
38	chr22:21399600-21400600	Flanking Active TSS	HSMM	muscle
39	chr22:21399600-21400600	Flanking Active TSS	NH-A	brain
40	chr22:21399800-21400400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr22:21399800-21400400	Active TSS	Fetal Heart	heart
42	chr22:21399800-21400400	Active TSS	Fetal Stomach	stomach
43	chr22:21399800-21400400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr22:21399800-21400400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr22:21399800-21400400	Flanking Active TSS	HMEC	breast
46	chr22:21399800-21400600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr22:21399800-21400600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:21399800-21400600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr22:21399800-21400600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr22:21399800-21400600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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