Variant report

Variant	rs10105813
Chromosome Location	chr8:8932551-8932552
allele	C/G
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	STAT3	chr8:8932256-8932910	MCF10A-Er-Src	breast:	n/a	chr8:8932315-8932323
2	CEBPD	chr8:8932250-8933039	K562	blood:	n/a	chr8:8932589-8932600 chr8:8932588-8932599
3	CTCF	chr8:8932357-8932557	MCF-7	breast:	n/a	n/a
4	TEAD4	chr8:8932199-8933058	SK-N-SH	brain:	n/a	n/a
5	MYC	chr8:8932297-8932795	HUVEC	blood vessel:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
6	USF1	chr8:8932316-8932818	K562	blood:	n/a	n/a
7	SRF	chr8:8932326-8932800	MCF-7	breast:	n/a	chr8:8932559-8932577 chr8:8932561-8932572 chr8:8932561-8932574 chr8:8932558-8932572 chr8:8932476-8932486 chr8:8932560-8932575 chr8:8932558-8932576 chr8:8932562-8932576
8	MAX	chr8:8932109-8933224	A549	lung:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
9	CEBPB	chr8:8932188-8933096	HCT-116	colon:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
10	USF1	chr8:8932343-8932718	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr8:8932285-8933036	SK-N-SH	brain:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
12	FOXA2	chr8:8932317-8932837	A549	lung:	n/a	n/a
13	SIN3AK20	chr8:8932391-8932938	A549	lung:	n/a	n/a
14	GATA1	chr8:8932468-8932891	PBDEFetal	blood:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
15	TCF12	chr8:8932201-8932857	ECC-1	luminal epithelium:	n/a	n/a
16	USF2	chr8:8932437-8932885	K562	blood:	n/a	n/a
17	CEBPB	chr8:8932318-8933054	A549	lung:	n/a	chr8:8933004-8933017 chr8:8932746-8932759 chr8:8932856-8932869 chr8:8932857-8932868
18	STAT3	chr8:8932373-8932921	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr8:8932286-8932901	K562	blood:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
20	MYC	chr8:8932354-8932642	K562	blood:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
21	CTCF	chr8:8932440-8932590	GM12864	blood:	n/a	n/a
22	TEAD4	chr8:8932421-8932673	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr8:8932324-8932832	MCF-7	breast:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
24	POLR2A	chr8:8932119-8932934	U87	brain:	n/a	n/a
25	SIN3AK20	chr8:8932439-8932811	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr8:8932297-8932946	K562	blood:	n/a	n/a
27	TBL1XR1	chr8:8932198-8933026	K562	blood:	n/a	n/a
28	FOXP2	chr8:8932363-8932642	PFSK-1	brain:	n/a	n/a
29	RCOR1	chr8:8932278-8932950	K562	blood:	n/a	n/a
30	USF1	chr8:8932220-8932900	A549	lung:	n/a	n/a
31	SP1	chr8:8932134-8933017	HCT-116	colon:	n/a	n/a
32	FOXA1	chr8:8932399-8932604	T-47D	breast:	n/a	n/a
33	GATA3	chr8:8932259-8933067	A549	lung:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
34	IRF1	chr8:8932199-8933157	K562	blood:	n/a	chr8:8932742-8932756 chr8:8932780-8932791 chr8:8932741-8932753 chr8:8932778-8932791 chr8:8932742-8932752 chr8:8932741-8932753
35	CTCF	chr8:8932309-8932597	K562	blood:	n/a	n/a
36	TCF7L2	chr8:8932443-8932796	PANC-1	pancreas:	n/a	n/a
37	RAD21	chr8:8932268-8932739	ECC-1	luminal epithelium:	n/a	n/a
38	CBX3	chr8:8932261-8932896	K562	blood:	n/a	n/a
39	FOS	chr8:8932348-8932954	MCF10A-Er-Src	breast:	n/a	chr8:8932621-8932632 chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
40	USF1	chr8:8932190-8932826	ECC-1	luminal epithelium:	n/a	n/a
41	FOSL2	chr8:8932335-8932858	A549	lung:	n/a	chr8:8932623-8932632 chr8:8932358-8932366 chr8:8932464-8932474 chr8:8932648-8932660
42	REST	chr8:8932233-8933047	A549	lung:	n/a	n/a
43	USF1	chr8:8932131-8932922	HCT-116	colon:	n/a	n/a
44	EP300	chr8:8932241-8933080	A549	lung:	n/a	chr8:8932294-8932303 chr8:8932622-8932631
45	CTCF	chr8:8932357-8932563	Fibrobl	skin:	n/a	n/a
46	MAX	chr8:8932107-8933023	HCT-116	colon:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
47	MAX	chr8:8932292-8933020	Hela-S3	cervix:	n/a	chr8:8932487-8932497 chr8:8932488-8932497 chr8:8932602-8932613 chr8:8932622-8932631 chr8:8932489-8932496 chr8:8932486-8932497 chr8:8932487-8932497 chr8:8932487-8932496 chr8:8932482-8932501 chr8:8932485-8932498
48	TEAD4	chr8:8932232-8932911	ECC-1	luminal epithelium:	n/a	n/a
49	GATA3	chr8:8932142-8933155	SK-N-SH	brain:	n/a	chr8:8932713-8932729 chr8:8932718-8932735 chr8:8932717-8932726
50	POLR2A	chr8:8932229-8932780	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8932505..8934408-chr8:8934754..8936644,3	MCF-7	breast:
2	chr8:8923664..8926379-chr8:8930062..8932773,2	MCF-7	breast:
3	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:
4	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
5	chr8:8931608..8933862-chr8:9004172..9006310,2	MCF-7	breast:
6	chr8:8932442..8934749-chr8:8960194..8961935,2	K562	blood:
7	chr8:8932433..8935466-chr8:8936336..8937882,3	K562	blood:
8	chr8:8930610..8933089-chr8:8960499..8962552,2	MCF-7	breast:
9	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:

Variant related genes	Relation type
RNU7-55P	TF binding region
ENSG00000173281	Chromatin interaction

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

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

rs_ID	r²[population]
rs10503389	0.80[CEU][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs11774267	0.85[ASN][1000 genomes]
rs11787026	1.00[CHB][hapmap]
rs12114954	1.00[CHB][hapmap]
rs13274593	0.81[EUR][1000 genomes]
rs17646897	0.84[CEU][hapmap]
rs17702602	1.00[CHB][hapmap]
rs17703328	0.81[EUR][1000 genomes]
rs34277204	0.84[EUR][1000 genomes]
rs34968542	0.84[EUR][1000 genomes]
rs36022127	0.82[EUR][1000 genomes]
rs4841097	1.00[JPT][hapmap]
rs6601280	1.00[CHB][hapmap]
rs6601288	0.90[ASN][1000 genomes]
rs6983411	0.83[EUR][1000 genomes]
rs6983877	1.00[CHB][hapmap]
rs6997088	0.82[MEX][hapmap]
rs7000799	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7007456	0.80[EUR][1000 genomes]
rs7009435	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7011476	0.82[EUR][1000 genomes]
rs9650617	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9657508	0.83[EUR][1000 genomes]

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	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:8924000-8937800	Weak transcription	Lung	lung
4	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
5	chr8:8925200-8932600	Weak transcription	Liver	Liver
6	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
7	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
8	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
10	chr8:8930200-8933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
12	chr8:8930800-8934200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
14	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:8931600-8932800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:8931600-8933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:8931600-8933600	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:8931600-8935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:8931600-8938000	Enhancers	Placenta	Placenta
20	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
21	chr8:8932000-8932600	Enhancers	Fetal Muscle Trunk	muscle
22	chr8:8932000-8932600	Enhancers	Pancreas	Pancrea
23	chr8:8932000-8932600	Enhancers	NH-A	brain
24	chr8:8932000-8932600	Enhancers	NHDF-Ad	bronchial
25	chr8:8932000-8932600	Enhancers	Osteobl	bone
26	chr8:8932000-8932800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:8932000-8932800	Enhancers	Fetal Muscle Leg	muscle
28	chr8:8932000-8932800	Enhancers	Fetal Thymus	thymus
29	chr8:8932000-8932800	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:8932000-8932800	Enhancers	HSMM	muscle
31	chr8:8932000-8933000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:8932000-8933000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:8932000-8933200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:8932000-8933200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:8932000-8933200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr8:8932000-8933400	Enhancers	Stomach Mucosa	stomach
37	chr8:8932000-8933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:8932000-8933600	Enhancers	Right Atrium	heart
39	chr8:8932000-8935400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:8932000-8937800	Enhancers	Fetal Heart	heart
41	chr8:8932200-8932600	Weak transcription	Fetal Brain Male	brain
42	chr8:8932200-8932600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr8:8932200-8932800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:8932200-8932800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:8932200-8933000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:8932200-8933000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:8932200-8933000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:8932200-8933000	Flanking Active TSS	HMEC	breast
49	chr8:8932200-8933000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:8932200-8933200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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