Variant report

Variant	rs2079099
Chromosome Location	chr22:20850440-20850441
allele	A/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	NR2F2	chr22:20849850-20851243	K562	blood:	n/a	n/a
2	FOS	chr22:20850272-20850528	MCF10A-Er-Src	breast:	n/a	n/a
3	BCL3	chr22:20850425-20851028	A549	lung:	n/a	n/a
4	POLR2A	chr22:20849638-20851110	K562	blood:	n/a	n/a
5	POLR2A	chr22:20849736-20850711	A549	lung:	n/a	n/a
6	POLR2A	chr22:20849600-20851175	MCF-7	breast:	n/a	n/a
7	MAZ	chr22:20849126-20851084	GM12878	blood:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
8	TAF1	chr22:20850217-20850489	Hela-S3	cervix:	n/a	n/a
9	MYC	chr22:20850329-20850543	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr22:20849770-20851295	HCT-116	colon:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
11	RCOR1	chr22:20849480-20851210	K562	blood:	n/a	n/a
12	CTCF	chr22:20850320-20850470	HEEpiC	esophagus:	n/a	n/a
13	POLR2A	chr22:20850287-20850556	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:20849875-20850639	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr22:20849872-20850608	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr22:20849259-20851261	HepG2	liver:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
17	USF1	chr22:20849841-20850467	SK-N-SH	brain:	n/a	chr22:20850162-20850173 chr22:20850135-20850151
18	POLR2A	chr22:20849732-20850607	HUVEC	blood vessel:	n/a	n/a
19	MAX	chr22:20849318-20851302	ECC-1	luminal epithelium:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
20	CHD2	chr22:20849480-20851151	K562	blood:	n/a	chr22:20850255-20850265
21	ELF1	chr22:20849210-20850484	K562	blood:	n/a	chr22:20850006-20850015
22	USF1	chr22:20850007-20850458	GM12878	blood:	n/a	chr22:20850162-20850173 chr22:20850135-20850151
23	PAX5	chr22:20850062-20850458	GM12878	blood:	n/a	chr22:20850274-20850293
24	POLR2A	chr22:20849246-20851186	Hela-S3	cervix:	n/a	n/a
25	SP1	chr22:20850098-20850523	GM12878	blood:	n/a	chr22:20850255-20850264 chr22:20850145-20850154 chr22:20850146-20850155 chr22:20850255-20850264 chr22:20850254-20850263 chr22:20850144-20850156 chr22:20850144-20850156
26	HDAC2	chr22:20849162-20851331	K562	blood:	n/a	n/a
27	POLR2A	chr22:20849182-20850674	GM12892	blood:	n/a	n/a
28	POLR2A	chr22:20849155-20851156	H1-neurons	neurons:	n/a	n/a
29	MAZ	chr22:20849683-20851123	HepG2	liver:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
30	POLR2A	chr22:20849477-20851076	Raji	blood:	n/a	n/a
31	ATF2	chr22:20850366-20851084	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr22:20850113-20851148	K562	blood:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
33	TEAD4	chr22:20848860-20851312	K562	blood:	n/a	n/a
34	EGR1	chr22:20849691-20850541	ECC-1	luminal epithelium:	n/a	chr22:20850238-20850251 chr22:20850234-20850256 chr22:20850239-20850253 chr22:20850238-20850251 chr22:20850238-20850251 chr22:20849921-20849935 chr22:20850241-20850250 chr22:20850238-20850251 chr22:20850238-20850252 chr22:20849832-20849841 chr22:20850240-20850250 chr22:20850241-20850251 chr22:20850180-20850189
35	TAF1	chr22:20850215-20850478	GM12891	blood:	n/a	n/a
36	MAZ	chr22:20848868-20851382	IMR90	lung:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
37	IRF1	chr22:20849898-20851177	K562	blood:	n/a	n/a
38	TCF12	chr22:20850176-20850443	GM12878	blood:	n/a	n/a
39	ELF1	chr22:20849139-20850568	GM12878	blood:	n/a	chr22:20850006-20850015
40	POLR2A	chr22:20850240-20850533	GM12891	blood:	n/a	n/a
41	ZMIZ1	chr22:20849140-20851167	K562	blood:	n/a	n/a
42	FOSL1	chr22:20849297-20851064	K562	blood:	n/a	chr22:20850144-20850153
43	YY1	chr22:20849662-20850446	HepG2	liver:	n/a	chr22:20849850-20849861
44	POLR2A	chr22:20849144-20851246	K562	blood:	n/a	n/a
45	WRNIP1	chr22:20850304-20850560	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:20849468-20851171	MCF-7	breast:	n/a	n/a
47	MYC	chr22:20849476-20851141	K562	blood:	n/a	chr22:20850163-20850174 chr22:20850164-20850173
48	RCOR1	chr22:20849218-20850540	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr22:20850091-20851109	PANC-1	pancreas:	n/a	n/a
50	CEBPB	chr22:20850381-20850995	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20848840..20851795-chr22:20859607..20863336,5	MCF-7	breast:
2	chr22:20746710..20748813-chr22:20848271..20851288,3	K562	blood:
3	chr22:20772158..20773986-chr22:20850314..20851420,13	K562	blood:
4	chr22:20306208..20308472-chr22:20848442..20851144,2	MCF-7	breast:
5	chr22:20782547..20785284-chr22:20848903..20851402,3	K562	blood:
6	chr22:20783526..20786836-chr22:20848696..20851807,5	MCF-7	breast:
7	chr22:20836271..20837119-chr22:20850362..20850946,2	K562	blood:
8	chr22:20843658..20846337-chr22:20848926..20851110,3	MCF-7	breast:
9	chr22:20105135..20106887-chr22:20849504..20851260,2	K562	blood:
10	chr22:20827946..20834240-chr22:20848157..20851536,7	K562	blood:
11	chr22:20305298..20307063-chr22:20850226..20851854,2	K562	blood:
12	chr22:20848222..20853586-chr22:20860582..20863781,12	MCF-7	breast:
13	chr22:19909026..19910588-chr22:20850229..20852055,2	K562	blood:
14	chr22:20850024..20851927-chr22:21212671..21214629,2	K562	blood:
15	chr22:20783622..20785284-chr22:20849880..20851402,2	K562	blood:
16	chr22:20286073..20288681-chr22:20850193..20851733,2	K562	blood:
17	chr22:20849243..20851176-chr22:20937277..20940866,3	K562	blood:
18	chr22:20286073..20290077-chr22:20848237..20851733,4	K562	blood:
19	chr22:20850331..20852525-chr22:20913667..20915638,2	K562	blood:
20	chr22:20746710..20750506-chr22:20848271..20851400,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF74-1	chr22:20850204-20850974	XLOC_014159
2	lnc-ZNF74-1	chr22:20850177-20853078	NONHSAT083544

Variant related genes	Relation type
KLHL22	TF binding region
ENSG00000099917	Chromatin interaction
ENSG00000273343	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000242876	Chromatin interaction
ENSG00000185252	Chromatin interaction
ENSG00000273139	Chromatin interaction
ENSG00000244486	Chromatin interaction
ENSG00000099910	Chromatin interaction
ENSG00000161132	Chromatin interaction
ENSG00000241973	Chromatin interaction
ENSG00000128185	Chromatin interaction
ENSG00000099940	Chromatin interaction
ENSG00000255156	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1572876	0.87[CHB][hapmap]
rs165613	0.87[CHB][hapmap];0.86[CHD][hapmap]
rs165864	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[MKK][hapmap]
rs165889	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1682	0.90[ASN][1000 genomes]
rs177343	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[MKK][hapmap]
rs2003591	0.83[CHB][hapmap]
rs2329356	0.80[CHD][hapmap]
rs361573	0.83[CHB][hapmap]
rs361988	0.83[CHB][hapmap]
rs362071	0.80[YRI][hapmap]
rs362087	0.83[CHB][hapmap]
rs3810601	0.83[CHB][hapmap]
rs5749587	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs5749656	0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap]
rs5749713	0.83[CHB][hapmap]
rs5749718	0.82[CHB][hapmap];0.84[CHD][hapmap];0.82[MKK][hapmap]
rs5749793	0.83[CHB][hapmap]
rs5749847	0.83[CHB][hapmap]
rs5750181	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs5753651	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs5753802	0.83[CHB][hapmap]
rs5754388	0.83[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap]
rs5754661	0.83[CHB][hapmap]
rs5755286	0.86[CHB][hapmap]
rs5756019	0.97[ASN][1000 genomes]
rs61747404	0.90[ASN][1000 genomes]
rs8748	0.83[CHB][hapmap];0.80[CHD][hapmap]
rs9620147	0.87[CHB][hapmap]
rs9623544	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs98399	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
2	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
3	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
4	nsv828954	chr22:20641693-20904711	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv914393	chr22:20718116-21034788	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv588293	chr22:20732809-21004476	Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	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
26	nsv1061472	chr22:20734244-20858186	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
27	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
28	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
29	nsv834136	chr22:20738730-20891767	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
30	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
31	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
32	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
33	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
34	nsv1065725	chr22:20739324-20927615	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
35	nsv544589	chr22:20739324-20927615	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
36	nsv1063333	chr22:20739324-21353297	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
37	nsv544590	chr22:20739324-21353297	Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	nsv834138	chr22:20759359-20951242	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
50	nsv914400	chr22:20765989-20854161	Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2079099	ZNF280B	cis	cerebellum	SCAN
rs2079099	DGCR6	cis	cerebellum	SCAN
rs2079099	GSC2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20848600-20851400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:20848600-20851400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr22:20848600-20851800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:20848800-20850800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:20848800-20851000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr22:20848800-20851000	Active TSS	NHDF-Ad	bronchial
7	chr22:20848800-20851200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr22:20849000-20850800	Active TSS	Aorta	Aorta
9	chr22:20849000-20851000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:20849000-20851000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:20849000-20851000	Active TSS	Ovary	ovary
12	chr22:20849000-20851000	Active TSS	Osteobl	bone
13	chr22:20849000-20851200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:20849000-20851200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:20849000-20851200	Active TSS	Fetal Kidney	kidney
16	chr22:20849000-20851400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr22:20849200-20850600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:20849200-20850800	Active TSS	Fetal Brain Male	brain
19	chr22:20849200-20851000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:20849200-20851000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr22:20849200-20851000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:20849200-20851000	Active TSS	Brain Angular Gyrus	brain
23	chr22:20849200-20851000	Active TSS	Brain Anterior Caudate	brain
24	chr22:20849200-20851000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:20849200-20851000	Active TSS	Brain Substantia Nigra	brain
26	chr22:20849200-20851000	Active TSS	Esophagus	oesophagus
27	chr22:20849200-20851000	Active TSS	Fetal Intestine Large	intestine
28	chr22:20849200-20851000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr22:20849200-20851000	Active TSS	NHLF	lung
30	chr22:20849200-20851200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr22:20849200-20851200	Active TSS	Primary T cells from cord blood	blood
32	chr22:20849200-20851200	Active TSS	Gastric	stomach
33	chr22:20849200-20851200	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr22:20849200-20851400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:20849200-20851400	Active TSS	Colon Smooth Muscle	Colon
36	chr22:20849200-20851400	Active TSS	Rectal Smooth Muscle	rectum
37	chr22:20849200-20851400	Active TSS	A549	lung
38	chr22:20849200-20851800	Active TSS	Hela-S3	cervix
39	chr22:20849400-20850600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr22:20849400-20850600	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr22:20849400-20850600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:20849400-20850600	Active TSS	Placenta	Placenta
43	chr22:20849400-20850600	Active TSS	Small Intestine	intestine
44	chr22:20849400-20850600	Active TSS	NHEK	skin
45	chr22:20849400-20850800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr22:20849400-20850800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr22:20849400-20851000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:20849400-20851000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:20849400-20851000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:20849400-20851000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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