Variant report

Variant	rs10955167
Chromosome Location	chr8:99374877-99374878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99371126..99375307-chr8:99376656..99381075,4	K562	blood:
2	chr8:99373069..99375307-chr8:99379575..99381805,2	K562	blood:
3	chr8:99354049..99356109-chr8:99374598..99376859,2	MCF-7	breast:
4	chr8:99373585..99375762-chr8:99389237..99391103,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13262430	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896921	0.94[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896929	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28452766	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35961136	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7001549	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv891217	chr8:99346537-99391285	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv515633	chr8:99374659-99379259	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99367400-99377000	Enhancers	Fetal Lung	lung
2	chr8:99371000-99375400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:99371000-99376400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:99371000-99376800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:99371000-99376800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:99371200-99375000	Weak transcription	GM12878-XiMat	blood
7	chr8:99371200-99377000	Weak transcription	Aorta	Aorta
8	chr8:99371400-99376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99371400-99376400	Weak transcription	NHEK	skin
10	chr8:99371400-99376600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:99372400-99376600	Enhancers	Fetal Heart	heart
12	chr8:99373000-99376400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:99373400-99375200	Enhancers	Right Atrium	heart
14	chr8:99373400-99376800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:99373600-99375600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99373800-99375000	Enhancers	Left Ventricle	heart
17	chr8:99373800-99375000	Enhancers	HMEC	breast
18	chr8:99373800-99375200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:99373800-99375200	Enhancers	Ovary	ovary
20	chr8:99373800-99375800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:99373800-99375800	Enhancers	NHLF	lung
22	chr8:99373800-99376600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:99373800-99376800	Enhancers	NHDF-Ad	bronchial
24	chr8:99373800-99377200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:99374000-99375000	Enhancers	Stomach Smooth Muscle	stomach
26	chr8:99374000-99375200	Enhancers	Esophagus	oesophagus
27	chr8:99374000-99375200	Enhancers	Fetal Stomach	stomach
28	chr8:99374000-99375800	Enhancers	Stomach Mucosa	stomach
29	chr8:99374000-99376600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:99374000-99376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:99374200-99375000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:99374200-99375000	Enhancers	Psoas Muscle	Psoas
33	chr8:99374200-99375200	Enhancers	Lung	lung
34	chr8:99374200-99375400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:99374200-99375600	Enhancers	NH-A	brain
36	chr8:99374200-99376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:99374200-99376800	Weak transcription	HSMMtube	muscle
38	chr8:99374400-99376800	Weak transcription	Brain Angular Gyrus	brain
39	chr8:99374400-99376800	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:99374400-99377400	Enhancers	Placenta	Placenta
41	chr8:99374600-99375200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:99374600-99375600	Enhancers	K562	blood
43	chr8:99374600-99375600	Flanking Active TSS	Osteobl	bone
44	chr8:99374600-99376400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:99374600-99376600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:99374600-99376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:99374600-99376800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:99374600-99380200	Weak transcription	Gastric	stomach
49	chr8:99374800-99375400	Active TSS	Fetal Brain Male	brain
50	chr8:99374800-99376200	Weak transcription	Right Ventricle	heart

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