Variant report

Variant	rs810738
Chromosome Location	chr8:11611206-11611207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:11611204-11611479	SK-N-SH_RA	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11611189-11611239	ProgFib	skin:	n/a
2	chr8:11611189-11611239	GM12892	blood:	n/a
3	chr8:11611189-11611239	BE2_C	brain:	n/a
4	chr8:11611189-11611239	HL-60	blood:	n/a
5	chr8:11611189-11611239	HEK293	kidney:	embryo
6	chr8:11611189-11611239	HCPEpiC	choroid plexus:	n/a
7	chr8:11611189-11611239	AG04449	skin:	fetal
8	chr8:11611189-11611239	Caco-2	colon:	n/a
9	chr8:11611189-11611239	SKMC	muscle:	n/a
10	chr8:11611189-11611239	AoSMC	blood vessel:	n/a
11	chr8:11611189-11611239	Hela-S3	cervix:	n/a
12	chr8:11611189-11611239	U87	brain:	n/a
13	chr8:11611189-11611239	HRPEpiC	eye:	n/a
14	chr8:11611189-11611239	HMEC	breast:	n/a
15	chr8:11611189-11611239	GM12878	blood:	n/a
16	chr8:11611189-11611239	PrEC	prostate:	n/a
17	chr8:11611189-11611239	BJ	skin:	n/a
18	chr8:11611189-11611239	NHDF-neo	bronchial:	n/a
19	chr8:11611189-11611239	NT2-D1	testis:	n/a
20	chr8:11611189-11611239	SK-N-SH_RA	brain:	n/a
21	chr8:11611189-11611239	HCT-116	colon:	n/a
22	chr8:11611189-11611239	HCM	heart:	n/a
23	chr8:11611189-11611239	CMK	blood:	n/a
24	chr8:11611189-11611239	NHBE	bronchial:	n/a
25	chr8:11611189-11611239	MCF10A-Er-Src	breast:	n/a
26	chr8:11611189-11611239	LNCaP	prostate:	n/a
27	chr8:11611189-11611239	H1-hESC	embryonic stem cell:	embryo
28	chr8:11611189-11611239	NB4	blood:	n/a
29	chr8:11611189-11611239	HRE	kidney:	n/a
30	chr8:11611189-11611239	ovcar-3	ovarian:	n/a
31	chr8:11611189-11611239	SK-N-MC	brain:	n/a
32	chr8:11611189-11611239	AG09319	gingival:	n/a
33	chr8:11611189-11611239	GM12891	blood:	n/a
34	chr8:11611189-11611239	HNPCEpiC	eye:	n/a
35	chr8:11611189-11611239	AG09309	skin:	n/a
36	chr8:11611189-11611239	Jurkat	blood:	n/a
37	chr8:11611189-11611239	SAEC	small airway:	n/a
38	chr8:11611189-11611239	PFSK-1	brain:	n/a
39	chr8:11611189-11611239	T-47D	breast:	n/a
40	chr8:11611189-11611239	HCF	heart:	n/a
41	chr8:11611189-11611239	AG04450	lung:	fetal
42	chr8:11611189-11611239	HepG2	liver:	n/a
43	chr8:11611189-11611239	HIPEpiC	eye:	n/a
44	chr8:11611189-11611239	MCF-7	breast:	n/a
45	chr8:11611189-11611239	IMR90	lung:	fetal
46	chr8:11611189-11611239	AG10803	skin:	n/a
47	chr8:11611189-11611239	A549	lung:	n/a
48	chr8:11611189-11611239	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:11611189-11611239	HEEpiC	esophagus:	n/a
50	chr8:11611189-11611239	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11604748..11607888-chr8:11608880..11611391,3	K562	blood:

No data

Variant related genes	Relation type
GATA4	TF binding region
GATA4	CpG island

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1062219	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11250164	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784693	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784764	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11785481	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13250578	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs13281294	1.00[JPT][hapmap]
rs2409814	1.00[JPT][hapmap]
rs2409829	1.00[YRI][hapmap]
rs2645396	0.91[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36038176	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3729852	0.88[ASN][1000 genomes]
rs3735819	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6991234	1.00[JPT][hapmap]
rs7006733	1.00[JPT][hapmap]
rs7826055	0.98[EUR][1000 genomes]
rs804280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs804283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9644757	1.00[JPT][hapmap]

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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers 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 target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11604400-11614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11604800-11616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:11605000-11612400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:11606000-11616200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:11606200-11617400	Strong transcription	HepG2	liver
6	chr8:11607000-11612800	Weak transcription	Right Ventricle	heart
7	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
8	chr8:11607800-11611400	Weak transcription	Pancreas	Pancrea
9	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
10	chr8:11609200-11618600	Strong transcription	Ovary	ovary
11	chr8:11609600-11611400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11610200-11618400	Strong transcription	Liver	Liver
13	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
14	chr8:11610800-11615400	Enhancers	Fetal Heart	heart
15	chr8:11611000-11611600	Enhancers	Right Atrium	heart
16	chr8:11611000-11612600	Strong transcription	Left Ventricle	heart
17	chr8:11611000-11614400	Strong transcription	Gastric	stomach
18	chr8:11611200-11617000	Strong transcription	Placenta	Placenta

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