Variant report

Variant	rs7744807
Chromosome Location	chr6:35732531-35732532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

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	NANOG	chr6:35732295-35732737	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUND	chr6:35732074-35732668	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr6:35732104-35732728	ECC-1	luminal epithelium:	n/a	n/a
6	SP4	chr6:35732300-35732717	H1-hESC	embryonic stem cell:	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	BACH1	chr6:35732266-35732638	H1-hESC	embryonic stem cell:	n/a	n/a
10	ESR1	chr6:35732336-35732660	T-47D	breast:	n/a	n/a
11	CEBPB	chr6:35732437-35732817	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr6:35732075-35732857	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:35732428-35732535	MCF-7	breast:	n/a	n/a
14	MAX	chr6:35732202-35732703	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr6:35732283-35732762	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr6:35732080-35732784	MCF-7	breast:	n/a	n/a
17	TEAD4	chr6:35732226-35732721	H1-hESC	embryonic stem cell:	n/a	n/a
18	NR2F2	chr6:35732188-35732819	MCF-7	breast:	n/a	n/a
19	ATF2	chr6:35732019-35732715	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr6:35732233-35732708	ECC-1	luminal epithelium:	n/a	n/a
21	USF2	chr6:35732381-35732617	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF7L2	chr6:35732379-35732700	MCF-7	breast:	n/a	n/a
23	POU2F2	chr6:35732194-35732603	GM12891	blood:	n/a	chr6:35732420-35732433
24	USF1	chr6:35732291-35732728	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr6:35732103-35732779	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF217	chr6:35732404-35732671	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr6:35732278-35732679	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYC	chr6:35732410-35732566	MCF-7	breast:	n/a	n/a
29	E2F6	chr6:35732247-35732739	H1-hESC	embryonic stem cell:	n/a	n/a
30	E2F6	chr6:35732028-35732943	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr6:35732376-35732627	ECC-1	luminal epithelium:	n/a	n/a
32	ESR1	chr6:35732337-35732708	T-47D	breast:	n/a	n/a
33	MAX	chr6:35731985-35732710	H1-hESC	embryonic stem cell:	n/a	n/a
34	CREB1	chr6:35732071-35732762	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr6:35732406-35732547	MCF-7	breast:	n/a	n/a
36	SIN3A	chr6:35731931-35732694	H1-hESC	embryonic stem cell:	n/a	n/a
37	POU5F1	chr6:35732368-35732666	H1-hESC	embryonic stem cell:	n/a	chr6:35732420-35732433
38	POU5F1	chr6:35732183-35732742	H1-hESC	embryonic stem cell:	n/a	chr6:35732420-35732433
39	POU2F2	chr6:35732170-35732580	GM12878	blood:	n/a	chr6:35732420-35732433
40	ATF2	chr6:35732334-35732729	H1-hESC	embryonic stem cell:	n/a	n/a
41	EP300	chr6:35732175-35732705	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr6:35732165-35732549	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr6:35731997-35732630	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr6:35732464-35732533	MCF-7	breast:	n/a	n/a
45	SP1	chr6:35732106-35732738	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr6:35732244-35732846	H1-hESC	embryonic stem cell:	n/a	n/a
47	POU2F2	chr6:35732130-35732641	GM12891	blood:	n/a	chr6:35732420-35732433
48	TCF12	chr6:35732211-35732646	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr6:35731811-35732654	H1-hESC	embryonic stem cell:	n/a	n/a
50	YY1	chr6:35732293-35732634	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(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
ENSG00000196748	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12207830	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2817046	0.87[EUR][1000 genomes]
rs55837215	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66977204	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72925856	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9470094	0.81[EUR][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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35731200-35732600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr6:35731400-35732600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:35731400-35732600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr6:35731600-35732600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:35731600-35732600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:35731600-35732600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:35731600-35732600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:35731600-35733000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
9	chr6:35731800-35732600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:35731800-35732600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr6:35732000-35732600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr6:35732000-35732600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:35732000-35732600	Bivalent Enhancer	Primary B cells from cord blood	blood
14	chr6:35732000-35732600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:35732000-35732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:35732000-35732600	Bivalent Enhancer	Liver	Liver
17	chr6:35732000-35732600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
18	chr6:35732000-35732600	Enhancers	Gastric	stomach
19	chr6:35732000-35732600	Flanking Bivalent TSS/Enh	NHEK	skin
20	chr6:35732000-35732800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:35732000-35732800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:35732200-35732600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:35732200-35732600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:35732200-35732600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:35732200-35732600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:35732200-35732600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:35732200-35732600	Bivalent Enhancer	Fetal Brain Male	brain
28	chr6:35732200-35732600	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr6:35732200-35732600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr6:35732200-35732800	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr6:35732400-35732600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:35732400-35732600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr6:35732400-35732600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:35732400-35732600	Bivalent Enhancer	Brain Germinal Matrix	brain
35	chr6:35732400-35732600	Bivalent Enhancer	Left Ventricle	heart
36	chr6:35732400-35732600	Flanking Active TSS	Pancreas	Pancrea
37	chr6:35732400-35732600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
38	chr6:35732400-35732600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
39	chr6:35732400-35732600	Active TSS	GM12878-XiMat	blood
40	chr6:35732400-35732800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:35732400-35732800	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr6:35732400-35732800	Bivalent Enhancer	Fetal Intestine Small	intestine
43	chr6:35732400-35733000	Bivalent Enhancer	Placenta	Placenta
44	chr6:35732400-35744200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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