Variant report

Variant	rs4871360
Chromosome Location	chr8:120593737-120593738
allele	C/T
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	chr8:120593597-120594407	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr8:120593670-120594486	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA3	chr8:120593530-120594337	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:120593620-120594298	SK-N-SH	brain:	n/a	n/a
5	FOSL2	chr8:120593612-120594283	SK-N-SH	brain:	n/a	n/a
6	STAT3	chr8:120593659-120594214	MCF10A-Er-Src	breast:	n/a	n/a
7	PBX3	chr8:120593644-120594238	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr8:120593586-120594162	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr8:120593647-120594083	MCF10A-Er-Src	breast:	n/a	n/a
10	ZNF263	chr8:120593529-120593987	HEK293-T-REx	kidney:	n/a	n/a
11	FOS	chr8:120593670-120594499	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:120593722-120594110	SK-N-SH	brain:	n/a	n/a
13	FOS	chr8:120593642-120594499	MCF10A-Er-Src	breast:	n/a	n/a
14	NFIC	chr8:120593578-120594328	SK-N-SH	brain:	n/a	n/a
15	FOS	chr8:120593712-120594511	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:120593505-120594197	U87	brain:	n/a	n/a
17	POLR2A	chr8:120593532-120594077	U87	brain:	n/a	n/a
18	STAT3	chr8:120593647-120594469	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10097147	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10097368	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097501	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10098410	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10110878	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10112316	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11991811	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs13277188	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1374099	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1374100	0.89[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1374101	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2289888	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289889	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4520196	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4871401	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6986760	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987103	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987232	0.89[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7007302	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7017581	0.92[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs755175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822457	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7823511	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297599	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs935360	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
5	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
7	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
8	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:120579400-120597000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:120580000-120595000	Weak transcription	Brain Anterior Caudate	brain
13	chr8:120585000-120595000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:120587000-120594200	Weak transcription	Ovary	ovary
15	chr8:120587000-120594600	Weak transcription	Placenta	Placenta
16	chr8:120587000-120598400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:120587600-120595600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:120589000-120595600	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:120589000-120598000	Strong transcription	Fetal Lung	lung
20	chr8:120589200-120595000	Strong transcription	Adipose Nuclei	Adipose
21	chr8:120589600-120603000	Genic enhancers	NHDF-Ad	bronchial
22	chr8:120590600-120594200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:120590800-120594200	Weak transcription	Thymus	Thymus
24	chr8:120590800-120596200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:120591000-120594000	Enhancers	HMEC	breast
26	chr8:120591000-120594200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
28	chr8:120591200-120594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:120591600-120600000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:120591800-120593800	Weak transcription	Liver	Liver
31	chr8:120591800-120594000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:120591800-120594200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:120591800-120594600	Enhancers	Osteobl	bone
34	chr8:120591800-120594800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:120591800-120594800	Weak transcription	Psoas Muscle	Psoas
36	chr8:120591800-120595200	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:120591800-120595400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:120592000-120597400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:120592400-120598800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:120592800-120597800	Weak transcription	HSMMtube	muscle
41	chr8:120592800-120599000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:120593000-120596200	Weak transcription	Esophagus	oesophagus
43	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr8:120593200-120593800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:120593200-120594600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:120593600-120593800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:120593600-120593800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:120593600-120593800	Enhancers	HSMM	muscle
49	chr8:120593600-120593800	Enhancers	NHLF	lung
50	chr8:120593600-120594000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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