Variant report

Variant	rs7004862
Chromosome Location	chr8:95876963-95876964
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95833077..95835963-chr8:95876251..95878917,2	K562	blood:
2	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:
3	chr8:95873342..95877174-chr8:95877936..95881669,4	K562	blood:

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10086284	0.86[CHB][hapmap]
rs10096090	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10098563	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10098778	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs10099941	0.86[CHB][hapmap]
rs10100651	0.96[ASN][1000 genomes]
rs10104909	0.86[CHB][hapmap]
rs10112232	0.88[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10441538	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956930	0.86[CHB][hapmap]
rs10956931	0.86[CHB][hapmap]
rs10956932	0.86[CHB][hapmap]
rs1129152	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11996455	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155666	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545815	0.82[ASN][1000 genomes]
rs12546365	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12548874	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12548999	0.86[CHB][hapmap]
rs12549003	0.86[CHB][hapmap]
rs12550765	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs12679044	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs13254283	0.81[EUR][1000 genomes]
rs13271375	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13271644	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1453377	0.86[CHB][hapmap]
rs1453379	0.86[CHB][hapmap]
rs16893776	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs2123647	0.86[CHB][hapmap]
rs2945554	0.86[CHB][hapmap]
rs3779789	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3802193	0.86[CHB][hapmap]
rs4073755	0.82[ASN][1000 genomes]
rs4075835	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4500055	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734285	0.93[ASN][1000 genomes]
rs4735331	0.86[CHB][hapmap]
rs4735332	0.86[CHB][hapmap]
rs4735336	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs4735337	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs4735339	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs6471497	0.93[CHB][hapmap];0.89[JPT][hapmap]
rs6471503	0.86[CHB][hapmap]
rs6471504	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs6982393	0.86[CHB][hapmap];0.82[GIH][hapmap]
rs6991067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001535	0.86[CHB][hapmap]
rs7002058	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7015841	0.86[CHB][hapmap]
rs7017487	0.86[CHB][hapmap]
rs713113	0.96[CEU][hapmap];0.93[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817862	0.92[ASN][1000 genomes]
rs7820818	0.86[CHB][hapmap]
rs7827478	0.86[CHB][hapmap]
rs7845219	0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap]
rs896854	0.84[GIH][hapmap]
rs9643349	0.83[ASN][1000 genomes]
rs9650133	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7004862	INTS8	cis	cerebellum	SCAN
rs7004862	RBM12B	cis	cerebellum	SCAN
rs7004862	RAD54B	cis	cerebellum	SCAN
rs7004862	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
7	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
8	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
9	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
11	chr8:95870200-95877400	Weak transcription	NHEK	skin
12	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
13	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
15	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:95870400-95877400	Weak transcription	HepG2	liver
17	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
18	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
20	chr8:95871400-95889600	Weak transcription	NHLF	lung
21	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
22	chr8:95871800-95877600	Weak transcription	Ovary	ovary
23	chr8:95872200-95877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:95872400-95878600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
29	chr8:95872600-95877000	Weak transcription	Placenta	Placenta
30	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
32	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
33	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:95874000-95877000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:95874200-95877200	Strong transcription	Brain Germinal Matrix	brain
36	chr8:95874200-95878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:95874200-95879200	Strong transcription	Osteobl	bone
38	chr8:95874200-95883400	Strong transcription	Liver	Liver
39	chr8:95874200-95883600	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:95874200-95893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:95874200-95894800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr8:95874200-95895200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:95874200-95896600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:95874400-95878200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:95874400-95878600	Weak transcription	Fetal Intestine Small	intestine
48	chr8:95874400-95879400	Strong transcription	Dnd41	blood
49	chr8:95874400-95896200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:95874400-95896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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