Variant report

Variant	rs6470815
Chromosome Location	chr8:131347799-131347800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131345122..131348664-chr8:131349728..131353324,3	K562	blood:
2	chr8:131330257..131333007-chr8:131345961..131348000,2	K562	blood:
3	chr8:131338752..131343749-chr8:131347668..131351929,6	K562	blood:
4	chr8:131346527..131349689-chr8:131353512..131358068,4	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10091313	0.81[CHB][hapmap]
rs1017281	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs10956514	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs1118887	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1123205	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774690	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs11774947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11775292	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes]
rs12546206	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs13258946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13265869	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1340021	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1538728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17212137	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.82[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs1978550	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs2185366	0.83[CEU][hapmap];0.80[CHB][hapmap]
rs2554373	0.80[CHB][hapmap]
rs2894508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs34656350	0.82[EUR][1000 genomes]
rs3935174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4733571	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4733775	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs4733776	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4733777	0.83[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs4733780	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs62525919	0.80[EUR][1000 genomes]
rs62525923	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62525931	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6470805	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6470812	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7012705	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs7018225	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7464885	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7832651	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs7839155	0.85[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs876575	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs9643252	0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131353400	Weak transcription	Dnd41	blood
2	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
4	chr8:131336000-131350200	Weak transcription	Fetal Brain Female	brain
5	chr8:131336200-131347800	Weak transcription	Liver	Liver
6	chr8:131336800-131353400	Weak transcription	Hela-S3	cervix
7	chr8:131337200-131358200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:131337400-131350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:131338400-131350200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:131338400-131362400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:131339600-131351000	Weak transcription	Lung	lung
12	chr8:131339600-131354200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:131339800-131357800	Weak transcription	Esophagus	oesophagus
14	chr8:131340400-131363200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:131341000-131350200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:131341200-131349000	Enhancers	Fetal Heart	heart
17	chr8:131342600-131357600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:131342800-131355000	Weak transcription	Pancreas	Pancrea
19	chr8:131343000-131350800	Weak transcription	HepG2	liver
20	chr8:131343000-131351000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:131343000-131351000	Weak transcription	HMEC	breast
22	chr8:131343400-131349000	Enhancers	Brain Germinal Matrix	brain
23	chr8:131343600-131350600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:131343800-131350800	Weak transcription	Thymus	Thymus
25	chr8:131343800-131359200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:131344000-131350200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:131344200-131349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:131344400-131350800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:131344800-131351000	Weak transcription	NH-A	brain
30	chr8:131344800-131359200	Weak transcription	Fetal Lung	lung
31	chr8:131345200-131348200	Enhancers	Brain Hippocampus Middle	brain
32	chr8:131345400-131348800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:131345600-131348000	Enhancers	Adipose Nuclei	Adipose
34	chr8:131345600-131351200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:131345800-131349600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:131346000-131348000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:131346000-131348000	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:131346000-131348200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:131346000-131348200	Enhancers	Brain Angular Gyrus	brain
40	chr8:131346000-131348200	Enhancers	Brain Anterior Caudate	brain
41	chr8:131346000-131348200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr8:131346000-131348600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:131346000-131348600	Enhancers	Brain Substantia Nigra	brain
44	chr8:131346000-131348600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:131346000-131349000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:131346000-131349200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:131346000-131349200	Enhancers	Primary T cells from cord blood	blood
48	chr8:131346000-131349200	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:131346000-131350200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:131346000-131351200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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