Variant report

Variant	rs7830701
Chromosome Location	chr8:99023731-99023732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99014119..99017352-chr8:99021059..99024142,3	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10090458	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955143	0.81[JPT][hapmap]
rs11994638	1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12375372	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12674810	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12680911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13270713	0.81[JPT][hapmap]
rs1378121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16892217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896467	1.00[CEU][hapmap]
rs16896468	1.00[CEU][hapmap]
rs16896471	1.00[CEU][hapmap]
rs16896476	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs16896503	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16896514	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896518	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16896531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16896600	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes]
rs1869607	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961270	0.82[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2010014	0.95[EUR][1000 genomes]
rs2045807	0.85[EUR][1000 genomes]
rs2061053	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2290473	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513844	1.00[CEU][hapmap]
rs34354078	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734381	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4735516	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4735519	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59704264	0.85[EUR][1000 genomes]
rs60346298	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60580631	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988458	0.85[EUR][1000 genomes]
rs7010226	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018411	0.80[EUR][1000 genomes]
rs72677098	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72678728	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72678733	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678734	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678737	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678752	0.92[EUR][1000 genomes]
rs72678755	0.92[EUR][1000 genomes]
rs72678761	0.93[EUR][1000 genomes]
rs72678762	0.89[EUR][1000 genomes]
rs7843262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[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	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	esv15294	chr8:99017130-99025235	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7830701	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99008400-99045000	Weak transcription	Colonic Mucosa	Colon
2	chr8:99009000-99030000	Weak transcription	Pancreas	Pancrea
3	chr8:99009000-99030200	Weak transcription	Esophagus	oesophagus
4	chr8:99012000-99028800	Weak transcription	Aorta	Aorta
5	chr8:99012000-99032000	Weak transcription	Gastric	stomach
6	chr8:99012400-99028800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:99014200-99025400	Genic enhancers	Fetal Muscle Leg	muscle
8	chr8:99014200-99029600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:99015000-99034400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:99015800-99023800	Weak transcription	Spleen	Spleen
11	chr8:99017000-99025400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:99018000-99025000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr8:99018200-99024000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:99019000-99033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:99019400-99025200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:99019800-99025400	Genic enhancers	Fetal Stomach	stomach
17	chr8:99020000-99024600	Enhancers	HSMM	muscle
18	chr8:99020000-99033400	Weak transcription	Left Ventricle	heart
19	chr8:99020200-99024000	Enhancers	Osteobl	bone
20	chr8:99020800-99025200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:99021000-99027200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:99021000-99028600	Weak transcription	Liver	Liver
23	chr8:99021000-99032200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:99021200-99024800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:99021200-99032800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:99021200-99053600	Weak transcription	A549	lung
27	chr8:99021400-99024600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:99021400-99026000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:99021400-99029400	Weak transcription	Brain Angular Gyrus	brain
30	chr8:99021400-99029600	Weak transcription	Brain Hippocampus Middle	brain
31	chr8:99021400-99029800	Weak transcription	Brain Anterior Caudate	brain
32	chr8:99021400-99029800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:99021400-99033400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:99021400-99043800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:99021600-99024400	Enhancers	Fetal Heart	heart
36	chr8:99021600-99028800	Weak transcription	Adipose Nuclei	Adipose
37	chr8:99022000-99023800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:99022000-99024200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:99022200-99023800	Enhancers	Fetal Lung	lung
40	chr8:99022200-99024400	Enhancers	HSMMtube	muscle
41	chr8:99022400-99023800	Enhancers	NHEK	skin
42	chr8:99022400-99024200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:99022400-99024200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:99022400-99024200	Enhancers	Placenta	Placenta
45	chr8:99022400-99024600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:99022400-99024800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:99022400-99025200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:99022400-99025200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:99022600-99023800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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