Variant report

Variant	rs10956192
Chromosome Location	chr8:125668599-125668600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125667599..125669759-chr8:125673833..125675582,2	K562	blood:
2	chr8:125658978..125663524-chr8:125664698..125669211,7	MCF-7	breast:
3	chr8:125645660..125649648-chr8:125667642..125669195,3	K562	blood:
4	chr8:125667582..125669252-chr8:125725497..125727045,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10094360	0.85[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10956193	0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4311642	0.82[CHB][hapmap];0.80[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4870916	0.81[MEX][hapmap]
rs4870918	0.82[JPT][hapmap]
rs6470257	0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6981365	0.86[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7819510	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844234	0.86[JPT][hapmap];0.83[YRI][hapmap]

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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125655000-125672200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
3	chr8:125662600-125668600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:125663000-125668600	Weak transcription	HUVEC	blood vessel
5	chr8:125663800-125672200	Weak transcription	Fetal Stomach	stomach
6	chr8:125664200-125672200	Weak transcription	HSMMtube	muscle
7	chr8:125664400-125669800	Weak transcription	Placenta	Placenta
8	chr8:125666000-125669000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr8:125666000-125669400	Enhancers	Fetal Kidney	kidney
10	chr8:125666200-125668600	Enhancers	Right Atrium	heart
11	chr8:125666200-125668800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr8:125666200-125668800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:125666200-125670000	Enhancers	Adipose Nuclei	Adipose
14	chr8:125666200-125670000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr8:125666200-125670200	Enhancers	HMEC	breast
16	chr8:125666200-125670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:125666200-125674200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125666400-125668600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:125666400-125668600	Enhancers	Fetal Heart	heart
20	chr8:125666400-125668600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:125666400-125668600	Enhancers	Stomach Mucosa	stomach
22	chr8:125666400-125669000	Enhancers	Fetal Intestine Small	intestine
23	chr8:125666400-125670200	Enhancers	NHEK	skin
24	chr8:125666600-125668600	Enhancers	Liver	Liver
25	chr8:125666600-125668800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:125666800-125668600	Enhancers	Brain Substantia Nigra	brain
27	chr8:125666800-125668600	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:125666800-125668800	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:125666800-125669000	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:125666800-125670000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:125667000-125668600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr8:125667000-125669200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:125667000-125669200	Enhancers	Primary B cells from cord blood	blood
34	chr8:125667000-125670200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:125667200-125668600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr8:125667200-125668600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr8:125667200-125668600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:125667200-125668600	Enhancers	Fetal Intestine Large	intestine
39	chr8:125667200-125668800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:125667200-125674400	Enhancers	HepG2	liver
41	chr8:125667400-125668600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:125667400-125668600	Enhancers	Brain Germinal Matrix	brain
43	chr8:125667600-125668600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:125667600-125668600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:125667600-125669400	Weak transcription	Brain Anterior Caudate	brain
46	chr8:125667600-125670000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:125667600-125671800	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:125667600-125672800	Weak transcription	Small Intestine	intestine
49	chr8:125667800-125668600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr8:125667800-125669400	Weak transcription	NHDF-Ad	bronchial

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