Variant report

Variant	rs9607340
Chromosome Location	chr22:22222320-22222321
allele	G/T
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	IRF1	chr22:22221737-22222647	K562	blood:	n/a	chr22:22222396-22222410 chr22:22222398-22222411 chr22:22222398-22222411 chr22:22222398-22222411 chr22:22222398-22222411
2	NFATC1	chr22:22221933-22222661	GM12878	blood:	n/a	n/a
3	RELA	chr22:22221735-22222598	GM15510	blood:	n/a	n/a
4	CCNT2	chr22:22220906-22222721	K562	blood:	n/a	chr22:22221279-22221288
5	MYC	chr22:22221029-22222953	K562	blood:	n/a	chr22:22222195-22222204
6	THAP1	chr22:22221341-22222396	K562	blood:	n/a	n/a
7	MYC	chr22:22221484-22222533	NB4	blood:	n/a	chr22:22222195-22222204
8	YY1	chr22:22220515-22222803	K562	blood:	n/a	chr22:22221776-22221787 chr22:22221187-22221201 chr22:22221822-22221831 chr22:22221802-22221813 chr22:22221720-22221740
9	POLR2A	chr22:22221154-22222625	Hela-S3	cervix:	n/a	n/a
10	PAX5	chr22:22221983-22222612	GM12878	blood:	n/a	n/a
11	RCOR1	chr22:22221745-22222430	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:22221348-22222498	MCF-7	breast:	n/a	n/a
13	USF1	chr22:22221863-22222366	SK-N-SH_RA	brain:	n/a	chr22:22222121-22222132 chr22:22222122-22222131
14	CHD2	chr22:22221937-22222521	H1-hESC	embryonic stem cell:	n/a	n/a
15	HMGN3	chr22:22221187-22222677	K562	blood:	n/a	n/a
16	POLR2A	chr22:22221761-22222554	GM12878	blood:	n/a	n/a
17	POLR2A	chr22:22221689-22222531	GM12878	blood:	n/a	n/a
18	REST	chr22:22220888-22222700	K562	blood:	n/a	chr22:22221821-22221839 chr22:22221812-22221825
19	ELF1	chr22:22221282-22222490	K562	blood:	n/a	chr22:22221332-22221344 chr22:22221778-22221790 chr22:22221822-22221831 chr22:22222321-22222330
20	NFYB	chr22:22221892-22222624	GM12878	blood:	n/a	chr22:22222209-22222219 chr22:22222496-22222506
21	POLR2A	chr22:22220638-22223479	K562	blood:	n/a	n/a
22	MAX	chr22:22221556-22222619	NB4	blood:	n/a	chr22:22222195-22222204
23	JUN	chr22:22221761-22222746	K562	blood:	n/a	chr22:22222498-22222507 chr22:22222412-22222423
24	POLR2A	chr22:22221393-22222500	HL-60	blood:	n/a	n/a
25	POLR2A	chr22:22221693-22222496	HCT-116	colon:	n/a	n/a
26	POU2F2	chr22:22221719-22222718	GM12878	blood:	n/a	chr22:22222431-22222443 chr22:22222430-22222445 chr22:22222433-22222442 chr22:22222434-22222442 chr22:22222433-22222444 chr22:22222429-22222447 chr22:22222432-22222442 chr22:22222434-22222441 chr22:22222433-22222443 chr22:22222428-22222449 chr22:22222432-22222442
27	SIN3AK20	chr22:22219992-22222819	K562	blood:	n/a	n/a
28	POLR2A	chr22:22221730-22222711	K562	blood:	n/a	n/a
29	MAX	chr22:22221996-22222584	H1-hESC	embryonic stem cell:	n/a	chr22:22222195-22222204
30	BCLAF1	chr22:22222006-22222741	GM12878	blood:	n/a	chr22:22222321-22222334
31	STAT5A	chr22:22222189-22222626	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr22:22221934-22222503	MCF-7	breast:	n/a	n/a
33	POU2F2	chr22:22222043-22222596	GM12878	blood:	n/a	chr22:22222431-22222443 chr22:22222430-22222445 chr22:22222433-22222442 chr22:22222434-22222442 chr22:22222433-22222444 chr22:22222429-22222447 chr22:22222432-22222442 chr22:22222434-22222441 chr22:22222433-22222443 chr22:22222428-22222449 chr22:22222432-22222442
34	E2F6	chr22:22221914-22222404	A549	lung:	n/a	n/a
35	MAZ	chr22:22220730-22222741	K562	blood:	n/a	chr22:22222195-22222204
36	EGR1	chr22:22221736-22222605	ECC-1	luminal epithelium:	n/a	chr22:22222146-22222156 chr22:22222144-22222158 chr22:22222145-22222156 chr22:22222145-22222159 chr22:22222146-22222156 chr22:22222143-22222158 chr22:22222144-22222157 chr22:22222144-22222157 chr22:22222147-22222156 chr22:22222144-22222157
37	CTCF	chr22:22222280-22222430	BJ	skin:	n/a	n/a
38	ZNF143	chr22:22221724-22222626	GM12878	blood:	n/a	n/a
39	USF1	chr22:22221802-22222620	HCT-116	colon:	n/a	chr22:22221836-22221852 chr22:22221822-22221838 chr22:22222121-22222132 chr22:22222122-22222131
40	BCLAF1	chr22:22221978-22222672	GM12878	blood:	n/a	chr22:22222321-22222334
41	POLR2A	chr22:22221723-22222571	H1-hESC	embryonic stem cell:	n/a	n/a
42	TBP	chr22:22221865-22222554	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:22221393-22222530	GM18526	blood:	n/a	n/a
44	SP1	chr22:22221831-22222756	GM12878	blood:	n/a	chr22:22221854-22221868
45	TCF12	chr22:22221708-22222474	ECC-1	luminal epithelium:	n/a	chr22:22222402-22222409
46	MAX	chr22:22221498-22222704	K562	blood:	n/a	chr22:22222195-22222204
47	TCF3	chr22:22222152-22222610	GM12878	blood:	n/a	n/a
48	CREB1	chr22:22221514-22222410	A549	lung:	n/a	n/a
49	NFIC	chr22:22222083-22222514	HepG2	liver:	n/a	n/a
50	MYC	chr22:22220939-22222399	MCF10A-Er-Src	breast:	n/a	chr22:22222195-22222204

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22222305-22222355	GM19239	blood:	n/a
2	chr22:22222305-22222355	HRCEpiC	kidney:	n/a
3	chr22:22222305-22222355	H1-hESC	embryonic stem cell:	embryo
4	chr22:22222305-22222355	A549	lung:	n/a
5	chr22:22222305-22222355	LNCaP	prostate:	n/a
6	chr22:22222305-22222355	HRE	kidney:	n/a
7	chr22:22222305-22222355	HNPCEpiC	eye:	n/a
8	chr22:22222305-22222355	AoSMC	blood vessel:	n/a
9	chr22:22222305-22222355	ECC-1	luminal epithelium:	n/a
10	chr22:22222305-22222355	Caco-2	colon:	n/a
11	chr22:22222305-22222355	U87	brain:	n/a
12	chr22:22222305-22222355	AG09309	skin:	n/a
13	chr22:22222305-22222355	BJ	skin:	n/a
14	chr22:22222305-22222355	GM06990	blood:	n/a
15	chr22:22222305-22222355	PFSK-1	brain:	n/a
16	chr22:22222305-22222355	MCF10A-Er-Src	breast:	n/a
17	chr22:22222305-22222355	SK-N-SH_RA	brain:	n/a
18	chr22:22222305-22222355	Hepatocyte	liver:	n/a
19	chr22:22222305-22222355	ProgFib	skin:	n/a
20	chr22:22222305-22222355	GM12891	blood:	n/a
21	chr22:22222305-22222355	HRPEpiC	eye:	n/a
22	chr22:22222305-22222355	HPAEpiC	pulmonary alveolar:	n/a
23	chr22:22222305-22222355	HEK293	kidney:	embryo
24	chr22:22222305-22222355	NHDF-neo	bronchial:	n/a
25	chr22:22222305-22222355	RPTEC	kidney:	n/a
26	chr22:22222305-22222355	CMK	blood:	n/a
27	chr22:22222305-22222355	HEEpiC	esophagus:	n/a
28	chr22:22222305-22222355	NH-A	brain:	n/a
29	chr22:22222305-22222355	BE2_C	brain:	n/a
30	chr22:22222305-22222355	ovcar-3	ovarian:	n/a
31	chr22:22222305-22222355	NT2-D1	testis:	n/a
32	chr22:22222305-22222355	HepG2	liver:	n/a
33	chr22:22222305-22222355	PrEC	prostate:	n/a
34	chr22:22222305-22222355	HCF	heart:	n/a
35	chr22:22222305-22222355	GM12892	blood:	n/a
36	chr22:22222305-22222355	AG04449	skin:	fetal
37	chr22:22222305-22222355	NHBE	bronchial:	n/a
38	chr22:22222305-22222355	HMEC	breast:	n/a
39	chr22:22222305-22222355	T-47D	breast:	n/a
40	chr22:22222305-22222355	HCM	heart:	n/a
41	chr22:22222305-22222355	PANC-1	pancreas:	n/a
42	chr22:22222305-22222355	AG10803	skin:	n/a
43	chr22:22222305-22222355	SAEC	small airway:	n/a
44	chr22:22222305-22222355	HUVEC	blood vessel:	n/a
45	chr22:22222305-22222355	HL-60	blood:	n/a
46	chr22:22222305-22222355	K562	blood:	n/a
47	chr22:22222305-22222355	MCF-7	breast:	n/a
48	chr22:22222305-22222355	HCPEpiC	choroid plexus:	n/a
49	chr22:22222305-22222355	HAEpiC	amniotic membrane:	n/a
50	chr22:22222305-22222355	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:22221402..22223173-chr22:22398013..22400687,2	K562	blood:
2	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
3	chr16:84538077..84538699-chr22:22222028..22222529,2	HCT-116	colon:
4	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
5	chr22:22038236..22040756-chr22:22220216..22222541,2	K562	blood:
6	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
7	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
8	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
9	chr22:22122532..22127617-chr22:22219162..22223701,7	K562	blood:
10	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
11	chr22:22219525..22222944-chr22:22304293..22307333,4	K562	blood:
12	chr22:22222094..22224055-chr22:22260389..22262322,2	K562	blood:
13	chr21:43430126..43430688-chr22:22221929..22222579,2	Hela-S3	cervix:
14	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
15	chr2:27994281..27994969-chr22:22221649..22222579,2	HCT-116	colon:
16	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
17	chr22:21985943..21988468-chr22:22221482..22223283,2	K562	blood:
18	chr22:22122532..22126168-chr22:22220788..22223701,4	K562	blood:
19	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
20	chr14:103058761..103059479-chr22:22221371..22222345,2	HCT-116	colon:
21	chr22:22220969..22223712-chr22:22898526..22900646,2	K562	blood:
22	chr22:22220823..22223520-chr22:22318773..22322069,3	K562	blood:
23	chr22:22219761..22223642-chr22:22333943..22337946,5	K562	blood:
24	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
25	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
26	chr22:22220380..22222469-chr22:22899146..22901372,2	K562	blood:
27	chr22:22145076..22147580-chr22:22220741..22222619,2	K562	blood:
28	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
29	chr22:22221437..22223165-chr22:22335243..22337233,2	K562	blood:
30	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:

Variant related genes	Relation type
MAPK1	TF binding region
MAPK1	CpG island
ENSG00000200985	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000100038	Chromatin interaction
ENSG00000253794	Chromatin interaction
ENSG00000243147	Chromatin interaction
ENSG00000140950	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000197549	Chromatin interaction
ENSG00000089902	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000173276	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11704205	0.84[EUR][1000 genomes]
rs1892846	0.86[EUR][1000 genomes]
rs1892848	0.85[EUR][1000 genomes]
rs2006893	0.80[EUR][1000 genomes]
rs2266967	0.84[EUR][1000 genomes]
rs2283794	0.87[EUR][1000 genomes]
rs3788332	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4478016	0.83[EUR][1000 genomes]
rs4516540	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4821402	0.87[EUR][1000 genomes]
rs55762115	0.80[AFR][1000 genomes]
rs5749986	0.82[EUR][1000 genomes]
rs5749998	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5750113	0.87[EUR][1000 genomes]
rs5755694	0.89[AMR][1000 genomes]
rs5999515	0.84[EUR][1000 genomes]
rs5999521	0.84[EUR][1000 genomes]
rs5999550	0.84[EUR][1000 genomes]
rs5999750	0.81[EUR][1000 genomes]
rs6518986	0.86[EUR][1000 genomes]
rs8136590	0.82[EUR][1000 genomes]
rs8141851	0.84[EUR][1000 genomes]
rs9607287	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9607347	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9610458	0.89[AMR][1000 genomes]
rs9610505	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active 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	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
11	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	64 gene(s)	inside rSNPs	diseases
16	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
19	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
20	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
21	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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 target site	145 gene(s)	inside rSNPs	diseases
22	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
24	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
25	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 target site	145 gene(s)	inside rSNPs	diseases
26	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 target site	145 gene(s)	inside rSNPs	diseases
27	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
28	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
29	esv2422217	chr22:22217341-23120076	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
30	esv2422394	chr22:22220046-22543157	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
31	esv3389906	chr22:22220477-22223325	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
32	esv3361521	chr22:22220802-22222950	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9607340	TOP3BP1	cis	Adipose Subcutaneous	GTEx
rs9607340	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs9607340	LL22NC03-86G7.1	cis	Whole Blood	GTEx
rs9607340	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs9607340	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs9607340	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs9607340	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22219200-22222600	Active TSS	Aorta	Aorta
2	chr22:22219400-22223000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr22:22219400-22223000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:22219600-22222400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr22:22219600-22222600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:22219600-22222800	Active TSS	HSMM	muscle
7	chr22:22219800-22222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr22:22219800-22222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:22219800-22222400	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr22:22219800-22222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:22219800-22222400	Active TSS	Brain Angular Gyrus	brain
12	chr22:22219800-22222400	Active TSS	HSMMtube	muscle
13	chr22:22219800-22222400	Active TSS	NH-A	brain
14	chr22:22219800-22222800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:22219800-22222800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr22:22219800-22223200	Active TSS	Brain Hippocampus Middle	brain
17	chr22:22220000-22222400	Active TSS	Colonic Mucosa	Colon
18	chr22:22220000-22222400	Active TSS	Fetal Kidney	kidney
19	chr22:22220000-22222400	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr22:22220000-22222600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr22:22220000-22222600	Active TSS	Ovary	ovary
22	chr22:22220200-22222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:22220200-22222400	Active TSS	Brain Substantia Nigra	brain
24	chr22:22220200-22222400	Active TSS	Fetal Brain Female	brain
25	chr22:22220200-22222600	Active TSS	Fetal Intestine Large	intestine
26	chr22:22220200-22222600	Active TSS	Psoas Muscle	Psoas
27	chr22:22220200-22222800	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr22:22220200-22222800	Active TSS	Left Ventricle	heart
29	chr22:22220200-22222800	Active TSS	Rectal Smooth Muscle	rectum
30	chr22:22220200-22222800	Active TSS	Right Ventricle	heart
31	chr22:22220200-22222800	Active TSS	NHDF-Ad	bronchial
32	chr22:22220200-22222800	Active TSS	NHEK	skin
33	chr22:22220200-22223000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr22:22220200-22223000	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr22:22220200-22223200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr22:22220200-22223200	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr22:22220400-22222400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:22220400-22222400	Active TSS	Fetal Lung	lung
39	chr22:22220400-22222400	Active TSS	Stomach Smooth Muscle	stomach
40	chr22:22220400-22222600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr22:22220400-22222600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:22220400-22222600	Active TSS	Fetal Intestine Small	intestine
43	chr22:22220400-22222600	Active TSS	Gastric	stomach
44	chr22:22220400-22222600	Active TSS	Lung	lung
45	chr22:22220400-22222600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr22:22220400-22222600	Active TSS	GM12878-XiMat	blood
47	chr22:22220400-22222800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:22220400-22222800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:22220400-22222800	Active TSS	Brain Cingulate Gyrus	brain
50	chr22:22220400-22222800	Active TSS	Colon Smooth Muscle	Colon

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