Variant report

Variant	rs71314757
Chromosome Location	chr22:21357119-21357120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr22:21355085-21357462	K562	blood:	n/a	n/a
2	POLR2A	chr22:21355676-21357424	SK-N-SH	brain:	n/a	n/a
3	RELA	chr22:21355822-21357268	GM10847	blood:	n/a	n/a
4	ZBTB7A	chr22:21356916-21357538	K562	blood:	n/a	n/a
5	POLR2A	chr22:21355413-21357666	HUVEC	blood vessel:	n/a	n/a
6	ARID3A	chr22:21355932-21357355	K562	blood:	n/a	n/a
7	POLR2A	chr22:21354719-21357226	GM12878	blood:	n/a	n/a
8	POLR2A	chr22:21350403-21357566	K562	blood:	n/a	n/a
9	POLR2A	chr22:21350655-21357590	GM12892	blood:	n/a	n/a
10	POLR2A	chr22:21357101-21357481	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:21350592-21357534	K562	blood:	n/a	n/a
12	MAX	chr22:21354545-21357599	K562	blood:	n/a	chr22:21354773-21354783
13	POLR2A	chr22:21355529-21357451	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr22:21355466-21357423	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr22:21351085-21357562	GM12892	blood:	n/a	n/a
16	RCOR1	chr22:21355135-21357520	K562	blood:	n/a	n/a
17	POLR2A	chr22:21350884-21357505	GM19193	blood:	n/a	n/a
18	MYC	chr22:21355473-21357369	K562	blood:	n/a	n/a
19	HEY1	chr22:21350856-21357640	K562	blood:	n/a	n/a
20	POLR2A	chr22:21357112-21357444	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:21355002-21357712	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr22:21350523-21357942	HepG2	liver:	n/a	n/a
23	NR2F2	chr22:21351848-21358604	K562	blood:	n/a	n/a
24	MXI1	chr22:21354864-21357711	IMR90	lung:	n/a	n/a
25	POLR2A	chr22:21354595-21357578	GM12891	blood:	n/a	n/a
26	CHD2	chr22:21355607-21357323	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr22:21355401-21357570	GM12891	blood:	n/a	n/a
28	MYC	chr22:21355533-21357432	K562	blood:	n/a	n/a
29	STAT5A	chr22:21354727-21357678	K562	blood:	n/a	n/a
30	CUX1	chr22:21357106-21357311	K562	blood:	n/a	n/a
31	TEAD4	chr22:21351124-21358613	K562	blood:	n/a	n/a
32	TCF7L2	chr22:21356061-21357473	Hela-S3	cervix:	n/a	n/a
33	PAX5	chr22:21356866-21357134	GM12878	blood:	n/a	n/a
34	GATA2	chr22:21355663-21357213	SH-SY5Y	brain:	n/a	n/a
35	TBL1XR1	chr22:21355686-21357176	K562	blood:	n/a	n/a
36	E2F6	chr22:21354908-21357494	K562	blood:	n/a	n/a
37	MXI1	chr22:21355665-21357252	GM12878	blood:	n/a	n/a
38	EP300	chr22:21355706-21357290	K562	blood:	n/a	n/a
39	YY1	chr22:21355302-21357508	K562	blood:	n/a	n/a
40	POLR2A	chr22:21356937-21357504	A549	lung:	n/a	n/a
41	E2F6	chr22:21356861-21357455	K562	blood:	n/a	n/a
42	TEAD4	chr22:21354477-21357712	K562	blood:	n/a	n/a
43	POLR2A	chr22:21355774-21357224	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr22:21350728-21357391	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr22:21350379-21357553	GM12878	blood:	n/a	n/a
46	MYC	chr22:21355058-21357241	K562	blood:	n/a	n/a
47	CCNT2	chr22:21354960-21357133	K562	blood:	n/a	n/a
48	POLR2A	chr22:21355781-21357471	HCT-116	colon:	n/a	n/a
49	POLR2A	chr22:21355567-21357524	MCF-7	breast:	n/a	n/a
50	POLR2A	chr22:21357118-21357431	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21355601..21357315-chr22:22006287..22008814,2	K562	blood:
2	chr22:21355013..21357927-chr22:22018389..22021827,3	K562	blood:
3	chr22:21269994..21274450-chr22:21354276..21357962,9	K562	blood:
4	chr22:21244446..21247131-chr22:21354542..21357509,3	K562	blood:
5	chr22:21355304..21358222-chr22:21995190..21998500,3	K562	blood:
6	chr22:21355196..21358122-chr22:21359595..21361259,2	MCF-7	breast:
7	chr22:21354638..21358198-chr22:21455223..21459884,5	MCF-7	breast:
8	chr22:21356594..21358212-chr22:21362157..21364209,2	MCF-7	breast:
9	chr22:21132034..21137457-chr22:21355895..21358257,4	K562	blood:
10	chr22:21355227..21358354-chr22:21455605..21457626,3	K562	blood:
11	chr22:21212546..21216138-chr22:21356096..21358664,4	K562	blood:
12	chr22:21355013..21358028-chr22:22019128..22023299,3	K562	blood:
13	chr11:65188577..65190463-chr22:21354686..21357172,2	K562	blood:
14	chr22:21269815..21273792-chr22:21353783..21357974,6	MCF-7	breast:
15	chr22:21354919..21360607-chr22:21367214..21371527,6	MCF-7	breast:
16	chr2:88315652..88316260-chr22:21356382..21357230,2	Hela-S3	cervix:
17	chr22:21354576..21357139-chr6:26025887..26028431,2	K562	blood:
18	chr22:21311013..21313491-chr22:21354916..21358111,3	MCF-7	breast:
19	chr22:21269603..21273482-chr22:21354801..21358002,4	MCF-7	breast:
20	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
21	chr22:21355688..21358456-chr22:21397632..21400131,2	MCF-7	breast:
22	chr22:21209752..21215098-chr22:21353821..21358065,10	K562	blood:

No data

Variant related genes	Relation type
THAP7	TF binding region
ENSG00000124529	Chromatin interaction
ENSG00000206145	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000272600	Chromatin interaction
ENSG00000099940	Chromatin interaction
ENSG00000161149	Chromatin interaction
ENSG00000269103	Chromatin interaction
ENSG00000222724	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000241973	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000099937	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000237476	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000099957	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000169668	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6005269	0.84[ASN][1000 genomes]
rs71314758	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:90 , 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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs71314757	THAP7-AS1	cis	Esophagus Muscularis	GTEx
rs71314757	THAP7-AS1	cis	Nerve Tibial	GTEx
rs71314757	FLJ39582	cis	brain	BrainEAC
rs71314757	THAP7-AS1	cis	lung	GTEx
rs71314757	THAP7-AS1	cis	Adipose Subcutaneous	GTEx
rs71314757	THAP7-AS1	cis	Esophagus Mucosa	GTEx
rs71314757	THAP7-AS1	cis	Artery Tibial	GTEx
rs71314757	THAP7-AS1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21354600-21357400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:21354600-21357600	Active TSS	Fetal Kidney	kidney
3	chr22:21354600-21357800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr22:21354600-21357800	Active TSS	A549	lung
5	chr22:21355000-21357200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr22:21355000-21357400	Active TSS	Ovary	ovary
7	chr22:21355000-21357600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr22:21355000-21357800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr22:21355200-21357200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:21355200-21357600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:21355200-21357600	Active TSS	Aorta	Aorta
12	chr22:21355200-21357600	Active TSS	Lung	lung
13	chr22:21355200-21357600	Transcr. at gene 5' and 3'	Right Atrium	heart
14	chr22:21355200-21357800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr22:21355200-21357800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:21355400-21357200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:21355400-21357200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr22:21355400-21357200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:21355400-21357200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:21355400-21357200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:21355400-21357200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr22:21355400-21357200	Active TSS	Psoas Muscle	Psoas
23	chr22:21355400-21357200	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr22:21355400-21357200	Active TSS	Small Intestine	intestine
25	chr22:21355400-21357400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr22:21355400-21357400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr22:21355600-21357200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr22:21355600-21357200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:21355600-21357200	Active TSS	Brain Germinal Matrix	brain
30	chr22:21355600-21357200	Active TSS	Brain Substantia Nigra	brain
31	chr22:21355600-21357200	Active TSS	Fetal Brain Female	brain
32	chr22:21355600-21357200	Active TSS	Fetal Intestine Large	intestine
33	chr22:21355600-21357200	Active TSS	Fetal Intestine Small	intestine
34	chr22:21355600-21357200	Active TSS	Fetal Lung	lung
35	chr22:21355600-21357200	Active TSS	HSMM	muscle
36	chr22:21355600-21357400	Active TSS	Colon Smooth Muscle	Colon
37	chr22:21355600-21357400	Active TSS	HSMMtube	muscle
38	chr22:21355600-21357800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:21355600-21357800	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr22:21355600-21357800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:21355800-21357200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr22:21355800-21357200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr22:21355800-21357200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:21355800-21357200	Active TSS	Brain Cingulate Gyrus	brain
45	chr22:21355800-21357200	Active TSS	Brain Hippocampus Middle	brain
46	chr22:21355800-21357200	Active TSS	Esophagus	oesophagus
47	chr22:21355800-21357200	Active TSS	Fetal Heart	heart
48	chr22:21355800-21357200	Active TSS	Fetal Stomach	stomach
49	chr22:21355800-21357200	Active TSS	Left Ventricle	heart
50	chr22:21355800-21357200	Active TSS	Rectal Smooth Muscle	rectum

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