Variant report

Variant	rs6991067
Chromosome Location	chr8:95875676-95875677
allele	A/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	FOS	chr8:95875655-95875689	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr8:95875574-95875746	GM12891	blood:	n/a	chr8:95875680-95875693 chr8:95875679-95875692 chr8:95875686-95875699 chr8:95875680-95875693 chr8:95875681-95875690 chr8:95875682-95875689
3	SPI1	chr8:95875432-95875865	HL-60	blood:	n/a	chr8:95875680-95875693 chr8:95875679-95875692 chr8:95875686-95875699 chr8:95875680-95875693 chr8:95875495-95875508 chr8:95875681-95875690 chr8:95875682-95875689
4	MAFK	chr8:95875669-95875888	HepG2	liver:	n/a	chr8:95875758-95875773
5	FOS	chr8:95875660-95875742	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95874082..95876354-chr8:95878835..95880695,2	MCF-7	breast:
2	chr8:95865840..95868404-chr8:95874042..95875890,3	MCF-7	breast:
3	chr8:95873342..95877174-chr8:95877936..95881669,4	K562	blood:

Variant related genes	Relation type
INTS8	TF binding region
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10086284	0.86[CHB][hapmap]
rs10096090	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[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	0.94[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];0.81[LWK][hapmap];0.96[YRI][hapmap];0.83[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];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956930	0.86[CHB][hapmap]
rs10956931	0.86[CHB][hapmap]
rs10956932	0.86[CHB][hapmap]
rs1129152	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.84[LWK][hapmap];0.81[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11996455	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155666	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545815	0.81[ASN][1000 genomes]
rs12546365	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12548874	0.86[EUR][1000 genomes];0.80[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];0.86[EUR][1000 genomes]
rs13254283	0.82[EUR][1000 genomes]
rs13271375	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13271644	0.92[CEU][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.93[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]
rs2340584	0.81[EUR][1000 genomes]
rs2945554	0.86[CHB][hapmap]
rs3779789	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3802193	0.86[CHB][hapmap]
rs4073755	0.81[ASN][1000 genomes]
rs4075835	0.81[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4500055	1.00[CEU][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4734285	0.92[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]
rs7001535	0.86[CHB][hapmap]
rs7002058	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004862	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]
rs7015841	0.86[CHB][hapmap]
rs7017487	0.86[CHB][hapmap]
rs713113	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817862	0.93[ASN][1000 genomes]
rs7820818	0.86[CHB][hapmap]
rs7827478	0.86[CHB][hapmap]
rs7845219	0.80[ASW][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap]
rs896854	0.86[CHB][hapmap];0.84[GIH][hapmap]
rs9643349	0.81[ASN][1000 genomes]
rs9650133	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[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
rs6991067	INTS8	cis	cerebellum	SCAN
rs6991067	RBM12B	cis	cerebellum	SCAN
rs6991067	TP53INP1	cis	multi-tissue	Pritchard
rs6991067	RAD54B	cis	cerebellum	SCAN

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	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
7	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
8	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
9	chr8:95864000-95875800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
11	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
13	chr8:95870200-95877400	Weak transcription	NHEK	skin
14	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
15	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
17	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:95870400-95877400	Weak transcription	HepG2	liver
19	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
20	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
22	chr8:95871400-95889600	Weak transcription	NHLF	lung
23	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
24	chr8:95871800-95877600	Weak transcription	Ovary	ovary
25	chr8:95872200-95877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:95872200-95878600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:95872200-95880400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:95872200-95880400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:95872400-95876800	Weak transcription	Fetal Kidney	kidney
30	chr8:95872400-95878600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:95872400-95887400	Weak transcription	Fetal Heart	heart
32	chr8:95872600-95877000	Weak transcription	Placenta	Placenta
33	chr8:95873000-95883400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr8:95873600-95875800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:95873600-95891600	Strong transcription	Fetal Intestine Large	intestine
36	chr8:95873800-95892000	Strong transcription	Thymus	Thymus
37	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:95874000-95876000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr8:95874000-95876200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr8:95874000-95876400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:95874000-95877000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:95874200-95875800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:95874200-95875800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr8:95874200-95875800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:95874200-95875800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:95874200-95876000	Genic enhancers	Primary B cells from cord blood	blood
47	chr8:95874200-95876000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:95874200-95876200	Enhancers	Primary hematopoietic stem cells	blood
49	chr8:95874200-95877200	Strong transcription	Brain Germinal Matrix	brain
50	chr8:95874200-95878800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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