Variant report

Variant	rs2817052
Chromosome Location	chr6:35732261-35732262
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr6:35732079-35732787	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr6:35732188-35732692	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:35732105-35732406	ECC-1	luminal epithelium:	n/a	n/a
4	JUND	chr6:35732074-35732668	H1-hESC	embryonic stem cell:	n/a	n/a
5	POU2F2	chr6:35732189-35732475	GM12878	blood:	n/a	chr6:35732420-35732433
6	MAX	chr6:35732104-35732728	ECC-1	luminal epithelium:	n/a	n/a
7	USF1	chr6:35732233-35732788	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr6:35731859-35732590	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr6:35732075-35732857	MCF-7	breast:	n/a	n/a
10	MAX	chr6:35732202-35732703	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr6:35732080-35732784	MCF-7	breast:	n/a	n/a
12	TEAD4	chr6:35732226-35732721	H1-hESC	embryonic stem cell:	n/a	n/a
13	NR2F2	chr6:35732188-35732819	MCF-7	breast:	n/a	n/a
14	ATF2	chr6:35732019-35732715	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF7	chr6:35731933-35732398	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr6:35732233-35732708	ECC-1	luminal epithelium:	n/a	n/a
17	POU2F2	chr6:35732194-35732603	GM12891	blood:	n/a	chr6:35732420-35732433
18	SP1	chr6:35732103-35732779	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr6:35732247-35732739	H1-hESC	embryonic stem cell:	n/a	n/a
20	E2F6	chr6:35732028-35732943	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr6:35731985-35732710	H1-hESC	embryonic stem cell:	n/a	n/a
22	CREB1	chr6:35732071-35732762	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr6:35731931-35732694	H1-hESC	embryonic stem cell:	n/a	n/a
24	POU5F1	chr6:35732183-35732742	H1-hESC	embryonic stem cell:	n/a	chr6:35732420-35732433
25	POU2F2	chr6:35732170-35732580	GM12878	blood:	n/a	chr6:35732420-35732433
26	EP300	chr6:35732175-35732705	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:35732165-35732549	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr6:35731997-35732630	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr6:35732170-35732483	MCF-7	breast:	n/a	n/a
30	SP1	chr6:35732106-35732738	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr6:35731940-35732505	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr6:35732244-35732846	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU2F2	chr6:35732130-35732641	GM12891	blood:	n/a	chr6:35732420-35732433
34	TCF12	chr6:35732211-35732646	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAF1	chr6:35731811-35732654	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:35732212-35732409	MCF-7	breast:	n/a	n/a
37	EBF1	chr6:35732175-35732500	GM12878	blood:	n/a	n/a
38	POLR2A	chr6:35731215-35732878	H1-hESC	embryonic stem cell:	n/a	n/a
39	HA-E2F1	chr6:35732228-35732704	MCF-7	breast:	n/a	n/a
40	TBP	chr6:35732031-35732791	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr6:35731475-35732511	H1-hESC	embryonic stem cell:	n/a	n/a
42	TCF12	chr6:35732223-35732679	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr6:35731914-35732469	H1-hESC	embryonic stem cell:	n/a	n/a
44	GTF2F1	chr6:35732062-35732563	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr6:35732112-35732450	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35732234-35732284	PANC-1	pancreas:	n/a
2	chr6:35732234-35732284	NHDF-neo	bronchial:	n/a
3	chr6:35732234-35732284	BE2_C	brain:	n/a
4	chr6:35732234-35732284	HRE	kidney:	n/a
5	chr6:35732234-35732284	AG09319	gingival:	n/a
6	chr6:35732234-35732284	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:35732234-35732284	HRPEpiC	eye:	n/a
8	chr6:35732234-35732284	IMR90	lung:	fetal
9	chr6:35732234-35732284	ovcar-3	ovarian:	n/a
10	chr6:35732234-35732284	GM19239	blood:	n/a
11	chr6:35732234-35732284	HMEC	breast:	n/a
12	chr6:35732234-35732284	Jurkat	blood:	n/a
13	chr6:35732234-35732284	AG09309	skin:	n/a
14	chr6:35732234-35732284	HepG2	liver:	n/a
15	chr6:35732234-35732284	PrEC	prostate:	n/a
16	chr6:35732234-35732284	Hela-S3	cervix:	n/a
17	chr6:35732234-35732284	A549	lung:	n/a
18	chr6:35732234-35732284	AoSMC	blood vessel:	n/a
19	chr6:35732234-35732284	HEK293	kidney:	embryo
20	chr6:35732234-35732284	HAEpiC	amniotic membrane:	n/a
21	chr6:35732234-35732284	CMK	blood:	n/a
22	chr6:35732234-35732284	MCF10A-Er-Src	breast:	n/a
23	chr6:35732234-35732284	GM12892	blood:	n/a
24	chr6:35732234-35732284	SKMC	muscle:	n/a
25	chr6:35732234-35732284	Caco-2	colon:	n/a
26	chr6:35732234-35732284	AG04450	lung:	fetal
27	chr6:35732234-35732284	HL-60	blood:	n/a
28	chr6:35732234-35732284	NH-A	brain:	n/a
29	chr6:35732234-35732284	HNPCEpiC	eye:	n/a
30	chr6:35732234-35732284	NHBE	bronchial:	n/a
31	chr6:35732234-35732284	H1-hESC	embryonic stem cell:	embryo
32	chr6:35732234-35732284	MCF-7	breast:	n/a
33	chr6:35732234-35732284	HUVEC	blood vessel:	n/a
34	chr6:35732234-35732284	SK-N-MC	brain:	n/a
35	chr6:35732234-35732284	HCF	heart:	n/a
36	chr6:35732234-35732284	LNCaP	prostate:	n/a
37	chr6:35732234-35732284	Hepatocyte	liver:	n/a
38	chr6:35732234-35732284	HCPEpiC	choroid plexus:	n/a
39	chr6:35732234-35732284	SAEC	small airway:	n/a
40	chr6:35732234-35732284	PFSK-1	brain:	n/a
41	chr6:35732234-35732284	HCT-116	colon:	n/a
42	chr6:35732234-35732284	T-47D	breast:	n/a
43	chr6:35732234-35732284	GM06990	blood:	n/a
44	chr6:35732234-35732284	K562	blood:	n/a
45	chr6:35732234-35732284	HIPEpiC	eye:	n/a
46	chr6:35732234-35732284	U87	brain:	n/a
47	chr6:35732234-35732284	ECC-1	luminal epithelium:	n/a
48	chr6:35732234-35732284	AG04449	skin:	fetal
49	chr6:35732234-35732284	RPTEC	kidney:	n/a
50	chr6:35732234-35732284	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35732104..35733606-chr6:35743411..35745004,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000220734	TF binding region
ENSG00000220734	CpG island
ENSG00000196748	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2263331	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2766556	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2766557	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2766558	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2766560	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2766561	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2766562	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766563	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766564	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2766565	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2766567	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2766570	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2817045	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2817047	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817048	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817049	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2817050	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817053	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2817054	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817055	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2817056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817057	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2817058	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817060	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817061	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457848	0.87[ASN][1000 genomes]
rs7768547	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9366891	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394316	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9470089	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' 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	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35731200-35732600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:35731400-35732400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:35731400-35732600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:35731400-35732600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:35731600-35732600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr6:35731600-35732600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:35731600-35732600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:35731600-35732600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:35731600-35733000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
10	chr6:35731800-35732400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr6:35731800-35732400	Bivalent Enhancer	Fetal Heart	heart
12	chr6:35731800-35732400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:35731800-35732600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:35731800-35732600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr6:35732000-35732400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:35732000-35732400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:35732000-35732400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:35732000-35732400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr6:35732000-35732400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
20	chr6:35732000-35732400	Bivalent/Poised TSS	Placenta	Placenta
21	chr6:35732000-35732400	Bivalent Enhancer	Fetal Thymus	thymus
22	chr6:35732000-35732400	Bivalent/Poised TSS	GM12878-XiMat	blood
23	chr6:35732000-35732400	Bivalent Enhancer	K562	blood
24	chr6:35732000-35732600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:35732000-35732600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:35732000-35732600	Bivalent Enhancer	Primary B cells from cord blood	blood
27	chr6:35732000-35732600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:35732000-35732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:35732000-35732600	Bivalent Enhancer	Liver	Liver
30	chr6:35732000-35732600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr6:35732000-35732600	Enhancers	Gastric	stomach
32	chr6:35732000-35732600	Flanking Bivalent TSS/Enh	NHEK	skin
33	chr6:35732000-35732800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr6:35732000-35732800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:35732200-35732400	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:35732200-35732400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr6:35732200-35732400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:35732200-35732400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:35732200-35732400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:35732200-35732400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:35732200-35732400	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr6:35732200-35732400	Active TSS	Pancreas	Pancrea
43	chr6:35732200-35732400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
44	chr6:35732200-35732400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr6:35732200-35732400	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr6:35732200-35732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr6:35732200-35732600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:35732200-35732600	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr6:35732200-35732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:35732200-35732600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain

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