Variant report

Variant	rs71314758
Chromosome Location	chr22:21369454-21369455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:21369017-21369601	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr22:21368908-21370234	K562	blood:	n/a	n/a
3	MAX	chr22:21369022-21369574	Hela-S3	cervix:	n/a	n/a
4	ELF1	chr22:21368069-21369674	K562	blood:	n/a	n/a
5	POLR2A	chr22:21368088-21369948	U87	brain:	n/a	n/a
6	TRIM28	chr22:21368103-21369718	K562	blood:	n/a	n/a
7	IRF1	chr22:21369028-21369458	K562	blood:	n/a	n/a
8	CBX3	chr22:21367306-21370590	K562	blood:	n/a	n/a
9	EGR1	chr22:21368346-21369668	K562	blood:	n/a	chr22:21368579-21368593 chr22:21368902-21368924 chr22:21368909-21368919 chr22:21368905-21368915 chr22:21368906-21368919
10	USF1	chr22:21368978-21369734	K562	blood:	n/a	n/a
11	PML	chr22:21367717-21369768	K562	blood:	n/a	n/a
12	MYC	chr22:21369359-21369474	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr22:21368125-21370674	K562	blood:	n/a	n/a
14	YY1	chr22:21368004-21369608	K562	blood:	n/a	chr22:21368596-21368607
15	ZC3H11A	chr22:21368364-21369573	K562	blood:	n/a	n/a
16	POLR2A	chr22:21369056-21369469	K562	blood:	n/a	n/a
17	TEAD4	chr22:21367339-21370635	K562	blood:	n/a	n/a
18	CBX3	chr22:21367983-21369608	K562	blood:	n/a	n/a
19	REST	chr22:21367556-21369601	K562	blood:	n/a	n/a
20	IRF1	chr22:21367842-21369514	K562	blood:	n/a	n/a
21	TAF1	chr22:21369017-21369771	K562	blood:	n/a	n/a
22	CCNT2	chr22:21368190-21369522	K562	blood:	n/a	n/a
23	THAP1	chr22:21368054-21369774	K562	blood:	n/a	n/a
24	POLR2A	chr22:21368928-21370231	K562	blood:	n/a	n/a
25	CEBPD	chr22:21368268-21369589	K562	blood:	n/a	n/a
26	HMGN3	chr22:21368139-21369548	K562	blood:	n/a	n/a
27	ATF3	chr22:21368036-21369799	K562	blood:	n/a	n/a
28	GATA1	chr22:21368438-21369574	PBDE	blood:	n/a	n/a
29	SIN3AK20	chr22:21369323-21369628	SK-N-SH	brain:	n/a	n/a
30	PML	chr22:21367539-21369777	K562	blood:	n/a	n/a
31	NR2F2	chr22:21367463-21370352	K562	blood:	n/a	n/a
32	POLR2A	chr22:21368878-21369554	PFSK-1	brain:	n/a	n/a
33	MAZ	chr22:21368170-21369677	K562	blood:	n/a	chr22:21368906-21368916
34	POLR2A	chr22:21368291-21369764	K562	blood:	n/a	n/a
35	POLR2A	chr22:21368997-21369677	K562	blood:	n/a	n/a
36	YY1	chr22:21368044-21369688	K562	blood:	n/a	chr22:21368596-21368607
37	ETS1	chr22:21368021-21370313	K562	blood:	n/a	chr22:21368026-21368036 chr22:21368025-21368034 chr22:21369300-21369313 chr22:21368025-21368034 chr22:21368025-21368034 chr22:21368023-21368032 chr22:21368025-21368034 chr22:21368024-21368033 chr22:21368025-21368034 chr22:21368025-21368034 chr22:21368025-21368034 chr22:21368021-21368037
38	SIN3AK20	chr22:21367949-21370256	K562	blood:	n/a	n/a
39	MAX	chr22:21368104-21369604	K562	blood:	n/a	chr22:21368906-21368916
40	TEAD4	chr22:21367610-21369510	K562	blood:	n/a	n/a
41	REST	chr22:21369350-21369605	SK-N-SH	brain:	n/a	n/a
42	ETS1	chr22:21368033-21370303	K562	blood:	n/a	chr22:21369300-21369313
43	POLR2A	chr22:21369002-21369492	K562	blood:	n/a	n/a
44	POLR2A	chr22:21369011-21369621	Hela-S3	cervix:	n/a	n/a
45	UBTF	chr22:21368890-21369489	K562	blood:	n/a	n/a
46	PBX3	chr22:21368290-21369457	SK-N-SH	brain:	n/a	n/a
47	EP300	chr22:21368062-21369551	K562	blood:	n/a	n/a
48	HDAC2	chr22:21368159-21369685	K562	blood:	n/a	n/a
49	JUN	chr22:21368257-21369529	K562	blood:	n/a	n/a
50	STAT5A	chr22:21368340-21369718	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21369411-21369461	MCF10A-Er-Src	breast:	n/a
2	chr22:21369411-21369461	AG09319	gingival:	n/a
3	chr22:21369411-21369461	U87	brain:	n/a
4	chr22:21369411-21369461	NHBE	bronchial:	n/a
5	chr22:21369411-21369461	RPTEC	kidney:	n/a
6	chr22:21369411-21369461	K562	blood:	n/a
7	chr22:21369411-21369461	NT2-D1	testis:	n/a
8	chr22:21369411-21369461	NB4	blood:	n/a
9	chr22:21369411-21369461	AG04450	lung:	fetal
10	chr22:21369411-21369461	GM19239	blood:	n/a
11	chr22:21369411-21369461	HepG2	liver:	n/a
12	chr22:21369411-21369461	BE2_C	brain:	n/a
13	chr22:21369411-21369461	HEEpiC	esophagus:	n/a
14	chr22:21369411-21369461	MCF-7	breast:	n/a
15	chr22:21369411-21369461	HCT-116	colon:	n/a
16	chr22:21369411-21369461	Hepatocyte	liver:	n/a
17	chr22:21369411-21369461	LNCaP	prostate:	n/a
18	chr22:21369411-21369461	HNPCEpiC	eye:	n/a
19	chr22:21369411-21369461	HRCEpiC	kidney:	n/a
20	chr22:21369411-21369461	SK-N-SH_RA	brain:	n/a
21	chr22:21369411-21369461	SK-N-SH	brain:	n/a
22	chr22:21369411-21369461	BJ	skin:	n/a
23	chr22:21369411-21369461	GM12878	blood:	n/a
24	chr22:21369411-21369461	HCF	heart:	n/a
25	chr22:21369411-21369461	ovcar-3	ovarian:	n/a
26	chr22:21369411-21369461	GM06990	blood:	n/a
27	chr22:21369411-21369461	AG10803	skin:	n/a
28	chr22:21369411-21369461	NHDF-neo	bronchial:	n/a
29	chr22:21369411-21369461	Hela-S3	cervix:	n/a
30	chr22:21369411-21369461	HRPEpiC	eye:	n/a
31	chr22:21369411-21369461	Caco-2	colon:	n/a
32	chr22:21369411-21369461	AoSMC	blood vessel:	n/a
33	chr22:21369411-21369461	GM12891	blood:	n/a
34	chr22:21369411-21369461	T-47D	breast:	n/a
35	chr22:21369411-21369461	PANC-1	pancreas:	n/a
36	chr22:21369411-21369461	HCPEpiC	choroid plexus:	n/a
37	chr22:21369411-21369461	ProgFib	skin:	n/a
38	chr22:21369411-21369461	HAEpiC	amniotic membrane:	n/a
39	chr22:21369411-21369461	IMR90	lung:	fetal
40	chr22:21369411-21369461	H1-hESC	embryonic stem cell:	embryo
41	chr22:21369411-21369461	AG09309	skin:	n/a
42	chr22:21369411-21369461	Jurkat	blood:	n/a
43	chr22:21369411-21369461	PrEC	prostate:	n/a
44	chr22:21369411-21369461	HMEC	breast:	n/a
45	chr22:21369411-21369461	HIPEpiC	eye:	n/a
46	chr22:21369411-21369461	PFSK-1	brain:	n/a
47	chr22:21369411-21369461	AG04449	skin:	fetal
48	chr22:21369411-21369461	ECC-1	luminal epithelium:	n/a
49	chr22:21369411-21369461	GM12892	blood:	n/a
50	chr22:21369411-21369461	CMK	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21354919..21360607-chr22:21367214..21371527,6	MCF-7	breast:
2	chr22:21010487..21012848-chr22:21367490..21369998,2	K562	blood:
3	chr22:21336318..21337183-chr22:21368539..21369455,2	K562	blood:
4	chr22:21368598..21370649-chr22:21982712..21985008,2	K562	blood:
5	chr22:21210943..21215199-chr22:21365730..21372829,9	K562	blood:
6	chr22:21355150..21357096-chr22:21369012..21370765,2	MCF-7	breast:
7	chr22:21270102..21273644-chr22:21366762..21370699,8	K562	blood:
8	chr22:21269758..21274224-chr22:21366755..21372844,9	K562	blood:
9	chr22:21211882..21214616-chr22:21367318..21370509,3	K562	blood:
10	chr22:21369351..21370097-chr22:21398719..21399612,2	MCF-7	breast:

No data

Variant related genes	Relation type
P2RX6	TF binding region
TUBA3FP	TF binding region
TUBA3FP	CpG island
P2RX6	CpG island
ENSG00000230513	Chromatin interaction
ENSG00000206145	Chromatin interaction
ENSG00000223553	Chromatin interaction
ENSG00000241973	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000099949	Chromatin interaction
ENSG00000264718	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000099940	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs6005269	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71314757	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:87 , 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	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs71314758	THAP7-AS1	cis	Nerve Tibial	GTEx
rs71314758	THAP7-AS1	cis	lung	GTEx
rs71314758	THAP7-AS1	cis	Artery Tibial	GTEx
rs71314758	P2RX6	cis	brain	BrainEAC
rs71314758	THAP7-AS1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21367600-21370400	Flanking Active TSS	K562	blood
2	chr22:21367800-21369600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr22:21367800-21369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:21367800-21369600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr22:21367800-21370400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr22:21368000-21369800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr22:21368000-21370000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr22:21368000-21370200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr22:21368000-21370200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr22:21368000-21370400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr22:21368000-21370400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr22:21368000-21370400	Enhancers	Fetal Heart	heart
13	chr22:21368000-21370400	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr22:21368000-21370400	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr22:21368000-21370400	Flanking Active TSS	Osteobl	bone
16	chr22:21368200-21369600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr22:21368200-21369600	Flanking Active TSS	Colonic Mucosa	Colon
18	chr22:21368200-21369600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr22:21368200-21369800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr22:21368200-21370000	Transcr. at gene 5' and 3'	Right Atrium	heart
21	chr22:21368200-21370400	Active TSS	Psoas Muscle	Psoas
22	chr22:21368200-21370600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr22:21368400-21369600	Bivalent Enhancer	Fetal Thymus	thymus
24	chr22:21368400-21370000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:21368600-21369600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr22:21368600-21369800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:21368600-21369800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr22:21368600-21369800	Flanking Active TSS	HepG2	liver
29	chr22:21368600-21371400	Enhancers	Spleen	Spleen
30	chr22:21368800-21369600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:21368800-21369600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:21368800-21369600	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr22:21368800-21369600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr22:21368800-21369600	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr22:21368800-21369600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:21368800-21369600	Enhancers	Gastric	stomach
37	chr22:21368800-21369600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr22:21368800-21369600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr22:21368800-21369600	Flanking Active TSS	A549	lung
40	chr22:21368800-21369800	Flanking Active TSS	Brain Substantia Nigra	brain
41	chr22:21368800-21370000	Flanking Active TSS	NHDF-Ad	bronchial
42	chr22:21368800-21370200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:21368800-21370200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr22:21368800-21370200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:21368800-21370200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:21368800-21370200	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr22:21368800-21370200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:21368800-21370200	Flanking Active TSS	NHLF	lung
49	chr22:21368800-21370400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:21369000-21369600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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