Variant report

Variant	rs2772385
Chromosome Location	chr6:33422150-33422151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:405)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr6:33421958-33422564	GM12878	blood:	n/a	n/a
2	ETS1	chr6:33421950-33422700	K562	blood:	n/a	chr6:33422636-33422649 chr6:33422309-33422320
3	TAF1	chr6:33421838-33422579	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr6:33421820-33422749	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:33421883-33422594	NB4	blood:	n/a	n/a
6	ATF2	chr6:33421965-33422549	GM12878	blood:	n/a	n/a
7	HDAC2	chr6:33421946-33422576	K562	blood:	n/a	n/a
8	IRF3	chr6:33422101-33422428	GM12878	blood:	n/a	chr6:33422253-33422262 chr6:33422290-33422299 chr6:33422228-33422242
9	TAF1	chr6:33421954-33422682	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr6:33421934-33422668	HepG2	liver:	n/a	n/a
11	SP1	chr6:33421951-33422554	K562	blood:	n/a	chr6:33422252-33422273 chr6:33422279-33422300
12	RUNX3	chr6:33421781-33422789	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr6:33421832-33422662	HepG2	liver:	n/a	n/a
14	POLR2A	chr6:33421913-33422637	HepG2	liver:	n/a	n/a
15	ELK1	chr6:33422077-33422518	Hela-S3	cervix:	n/a	n/a
16	SIN3A	chr6:33421804-33423120	H1-hESC	embryonic stem cell:	n/a	chr6:33422094-33422105
17	SRF	chr6:33421911-33422593	ECC-1	luminal epithelium:	n/a	chr6:33422313-33422323
18	ETS1	chr6:33422120-33422519	GM12878	blood:	n/a	chr6:33422309-33422320
19	WRNIP1	chr6:33422079-33422241	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:33421792-33422701	GM12892	blood:	n/a	n/a
21	E2F6	chr6:33422052-33422654	H1-hESC	embryonic stem cell:	n/a	chr6:33422253-33422262 chr6:33422290-33422299
22	POLR2A	chr6:33421544-33422636	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr6:33421756-33422707	A549	lung:	n/a	n/a
24	HCFC1	chr6:33421891-33422688	K562	blood:	n/a	n/a
25	POLR2A	chr6:33421833-33422600	SK-N-SH	brain:	n/a	n/a
26	MYC	chr6:33422055-33422563	K562	blood:	n/a	n/a
27	FOXA1	chr6:33422129-33422453	T-47D	breast:	n/a	n/a
28	SIN3AK20	chr6:33421898-33422841	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:33421625-33422707	HUVEC	blood vessel:	n/a	n/a
30	RFX5	chr6:33422117-33422514	GM12878	blood:	n/a	chr6:33422254-33422263
31	POLR2A	chr6:33421648-33422831	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr6:33421758-33422715	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr6:33421849-33422655	ECC-1	luminal epithelium:	n/a	n/a
34	ZNF263	chr6:33421664-33422668	HEK293-T-REx	kidney:	n/a	n/a
35	MAX	chr6:33422098-33422617	A549	lung:	n/a	n/a
36	REST	chr6:33421952-33422577	A549	lung:	n/a	chr6:33422177-33422187
37	POLR2A	chr6:33421889-33422632	GM12892	blood:	n/a	n/a
38	CREB1	chr6:33421876-33422654	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr6:33421901-33422586	HCT-116	colon:	n/a	n/a
40	POLR2A	chr6:33421771-33422637	K562	blood:	n/a	n/a
41	TAF1	chr6:33422059-33422533	PFSK-1	brain:	n/a	n/a
42	MAX	chr6:33421738-33422876	HepG2	liver:	n/a	n/a
43	ELF1	chr6:33421798-33422610	GM12878	blood:	n/a	chr6:33422309-33422321
44	POLR2A	chr6:33421878-33422653	HepG2	liver:	n/a	n/a
45	POLR2A	chr6:33421839-33422549	HUVEC	blood vessel:	n/a	n/a
46	TAF1	chr6:33422068-33422473	GM12892	blood:	n/a	n/a
47	ZNF384	chr6:33421955-33422777	K562	blood:	n/a	n/a
48	MAX	chr6:33421842-33422784	SK-N-SH	brain:	n/a	n/a
49	BHLHE40	chr6:33421945-33422582	K562	blood:	n/a	chr6:33422174-33422190
50	ELK4	chr6:33422148-33422536	HEK293	kidney:	n/a	chr6:33422351-33422362

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:33422102-33422152	Caco-2	colon:	n/a
2	chr6:33422102-33422152	HUVEC	blood vessel:	n/a
3	chr6:33422102-33422152	HepG2	liver:	n/a
4	chr6:33422102-33422152	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:33422102-33422152	SKMC	muscle:	n/a
6	chr6:33422102-33422152	PANC-1	pancreas:	n/a
7	chr6:33422102-33422152	LNCaP	prostate:	n/a
8	chr6:33422102-33422152	MCF10A-Er-Src	breast:	n/a
9	chr6:33422102-33422152	A549	lung:	n/a
10	chr6:33422102-33422152	H1-hESC	embryonic stem cell:	embryo
11	chr6:33422102-33422152	NH-A	brain:	n/a
12	chr6:33422102-33422152	Hela-S3	cervix:	n/a
13	chr6:33422102-33422152	SK-N-MC	brain:	n/a
14	chr6:33422102-33422152	HIPEpiC	eye:	n/a
15	chr6:33422102-33422152	SK-N-SH	brain:	n/a
16	chr6:33422102-33422152	K562	blood:	n/a
17	chr6:33422102-33422152	HRE	kidney:	n/a
18	chr6:33422102-33422152	GM19239	blood:	n/a
19	chr6:33422102-33422152	RPTEC	kidney:	n/a
20	chr6:33422102-33422152	SAEC	small airway:	n/a
21	chr6:33422102-33422152	ProgFib	skin:	n/a
22	chr6:33422102-33422152	HCM	heart:	n/a
23	chr6:33422102-33422152	ECC-1	luminal epithelium:	n/a
24	chr6:33422102-33422152	NHBE	bronchial:	n/a
25	chr6:33422102-33422152	AG09309	skin:	n/a
26	chr6:33422102-33422152	NHDF-neo	bronchial:	n/a
27	chr6:33422102-33422152	GM12892	blood:	n/a
28	chr6:33422102-33422152	T-47D	breast:	n/a
29	chr6:33422102-33422152	ovcar-3	ovarian:	n/a
30	chr6:33422102-33422152	HAEpiC	amniotic membrane:	n/a
31	chr6:33422102-33422152	NB4	blood:	n/a
32	chr6:33422102-33422152	AG09319	gingival:	n/a
33	chr6:33422102-33422152	HEK293	kidney:	embryo
34	chr6:33422102-33422152	HRCEpiC	kidney:	n/a
35	chr6:33422102-33422152	HL-60	blood:	n/a
36	chr6:33422102-33422152	HCF	heart:	n/a
37	chr6:33422102-33422152	U87	brain:	n/a
38	chr6:33422102-33422152	AG04450	lung:	fetal
39	chr6:33422102-33422152	HEEpiC	esophagus:	n/a
40	chr6:33422102-33422152	PFSK-1	brain:	n/a
41	chr6:33422102-33422152	Hepatocyte	liver:	n/a
42	chr6:33422102-33422152	BJ	skin:	n/a
43	chr6:33422102-33422152	GM06990	blood:	n/a
44	chr6:33422102-33422152	CMK	blood:	n/a
45	chr6:33422102-33422152	HNPCEpiC	eye:	n/a
46	chr6:33422102-33422152	GM12878	blood:	n/a
47	chr6:33422102-33422152	SK-N-SH_RA	brain:	n/a
48	chr6:33422102-33422152	HCT-116	colon:	n/a
49	chr6:33422102-33422152	NT2-D1	testis:	n/a
50	chr6:33422102-33422152	GM12891	blood:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33381847..33384907-chr6:33420236..33423106,3	MCF-7	breast:
2	chr6:33238561..33240428-chr6:33421904..33423704,2	K562	blood:
3	chr6:33385453..33389637-chr6:33419628..33424957,5	MCF-7	breast:
4	chr6:33377039..33379614-chr6:33421781..33424452,2	K562	blood:
5	chr6:33392449..33400629-chr6:33419013..33424035,12	MCF-7	breast:
6	chr6:33384548..33387250-chr6:33422114..33424496,2	K562	blood:
7	chr6:33395899..33401993-chr6:33420102..33423796,11	MCF-7	breast:
8	chr6:33245204..33246812-chr6:33420469..33423462,2	MCF-7	breast:
9	chr6:33406190..33414491-chr6:33419287..33424467,10	MCF-7	breast:
10	chr6:33398677..33403495-chr6:33419995..33423723,6	K562	blood:
11	chr6:33358950..33361251-chr6:33421997..33423819,3	K562	blood:

No data

Variant related genes	Relation type
ZBTB9	TF binding region
ZBTB9	CpG island
ENSG00000112514	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000237649	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000197283	Chromatin interaction
ENSG00000235863	Chromatin interaction
ENSG00000112511	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11759285	0.84[AFR][1000 genomes]
rs12529825	1.00[JPT][hapmap]
rs1536042	1.00[JPT][hapmap]
rs16869178	1.00[JPT][hapmap]
rs1755044	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395451	1.00[JPT][hapmap]
rs2772374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2772386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711333	1.00[JPT][hapmap]
rs4713647	1.00[JPT][hapmap]
rs480568	1.00[JPT][hapmap]
rs485623	1.00[JPT][hapmap]
rs557559	1.00[JPT][hapmap]
rs55768702	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560218	1.00[JPT][hapmap]
rs561276	1.00[JPT][hapmap]
rs60719642	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61421477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752930	1.00[JPT][hapmap]
rs7757722	1.00[JPT][hapmap]
rs7759963	0.81[AMR][1000 genomes]
rs7762843	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3341480	chr6:33418074-33422572	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3507170	chr6:33418124-33423322	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3507171	chr6:33418124-33423322	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33420800-33422800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:33421000-33422800	Active TSS	Primary T cells from cord blood	blood
3	chr6:33421000-33422800	Active TSS	Hela-S3	cervix
4	chr6:33421000-33422800	Active TSS	NH-A	brain
5	chr6:33421200-33422400	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr6:33421200-33422400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:33421200-33422800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:33421200-33422800	Active TSS	Right Ventricle	heart
9	chr6:33421200-33422800	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr6:33421200-33422800	Active TSS	HMEC	breast
11	chr6:33421200-33422800	Active TSS	HSMM	muscle
12	chr6:33421200-33422800	Active TSS	NHEK	skin
13	chr6:33421200-33423000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:33421200-33423000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:33421200-33423000	Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:33421200-33423200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:33421400-33422400	Active TSS	Pancreas	Pancrea
18	chr6:33421400-33422600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:33421400-33422600	Active TSS	Colonic Mucosa	Colon
20	chr6:33421400-33422600	Active TSS	Fetal Muscle Trunk	muscle
21	chr6:33421400-33422600	Active TSS	Placenta Amnion	Placenta Amnion
22	chr6:33421400-33422600	Active TSS	GM12878-XiMat	blood
23	chr6:33421400-33422800	Active TSS	H1 Cell Line	embryonic stem cell
24	chr6:33421400-33422800	Active TSS	Fetal Brain Female	brain
25	chr6:33421400-33422800	Active TSS	Gastric	stomach
26	chr6:33421400-33422800	Active TSS	Left Ventricle	heart
27	chr6:33421400-33422800	Active TSS	Lung	lung
28	chr6:33421400-33422800	Active TSS	Ovary	ovary
29	chr6:33421400-33422800	Active TSS	NHLF	lung
30	chr6:33421400-33423000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:33421400-33423000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:33421400-33423000	Active TSS	Fetal Intestine Large	intestine
33	chr6:33421400-33423200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:33421400-33423200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr6:33421400-33423200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:33421400-33423200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:33421400-33423200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr6:33421400-33423200	Active TSS	Fetal Kidney	kidney
39	chr6:33421400-33423200	Active TSS	A549	lung
40	chr6:33421400-33423400	Active TSS	NHDF-Ad	bronchial
41	chr6:33421600-33422400	Active TSS	Thymus	Thymus
42	chr6:33421600-33422600	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr6:33421600-33422600	Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr6:33421600-33422600	Active TSS	Colon Smooth Muscle	Colon
45	chr6:33421600-33422600	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr6:33421600-33422800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:33421600-33422800	Active TSS	Aorta	Aorta
48	chr6:33421600-33422800	Active TSS	Esophagus	oesophagus
49	chr6:33421600-33422800	Active TSS	Fetal Heart	heart
50	chr6:33421600-33422800	Active TSS	Rectal Smooth Muscle	rectum

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