Variant report

Variant	rs10109113
Chromosome Location	chr8:48388081-48388082
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48367371..48370360-chr8:48387599..48389529,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10094128	0.80[EUR][1000 genomes]
rs10099236	0.80[AFR][1000 genomes]
rs10441581	0.80[EUR][1000 genomes]
rs10957370	0.85[AFR][1000 genomes]
rs11776864	0.81[AFR][1000 genomes]
rs12547497	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13279327	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2130411	0.82[EUR][1000 genomes]
rs4436571	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4486659	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4594029	0.84[EUR][1000 genomes]
rs4873386	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873446	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873463	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4873478	0.83[EUR][1000 genomes]
rs4873546	0.82[EUR][1000 genomes]
rs6981485	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6986054	0.82[EUR][1000 genomes]
rs7825148	0.90[ASN][1000 genomes]
rs7827571	0.81[EUR][1000 genomes]
rs7842068	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:48373400-48390200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:48374600-48388800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:48375000-48392000	Weak transcription	Aorta	Aorta
6	chr8:48376600-48390000	Weak transcription	Primary B cells from cord blood	blood
7	chr8:48377800-48392200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:48378000-48390400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:48378000-48392200	Weak transcription	Fetal Kidney	kidney
10	chr8:48381200-48392000	Weak transcription	HSMMtube	muscle
11	chr8:48381600-48392000	Weak transcription	Right Ventricle	heart
12	chr8:48382400-48390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:48383000-48389200	Enhancers	Fetal Intestine Large	intestine
14	chr8:48383400-48388800	Weak transcription	Psoas Muscle	Psoas
15	chr8:48383600-48389400	Enhancers	Fetal Intestine Small	intestine
16	chr8:48384400-48396000	Weak transcription	Primary T cells from cord blood	blood
17	chr8:48384600-48389000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:48384600-48389200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:48384600-48389200	Enhancers	Pancreas	Pancrea
20	chr8:48384600-48389400	Enhancers	Stomach Mucosa	stomach
21	chr8:48384600-48396800	Weak transcription	Fetal Brain Male	brain
22	chr8:48385000-48388600	Weak transcription	Gastric	stomach
23	chr8:48385000-48388800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:48385000-48390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:48385000-48390400	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:48385000-48392000	Weak transcription	Right Atrium	heart
27	chr8:48385000-48397000	Weak transcription	Colonic Mucosa	Colon
28	chr8:48385200-48390200	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr8:48385200-48390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:48385600-48389400	Enhancers	Fetal Lung	lung
31	chr8:48385800-48390200	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:48386200-48388400	Enhancers	NHEK	skin
33	chr8:48386200-48388800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:48386200-48389200	Enhancers	Duodenum Mucosa	Duodenum
35	chr8:48386200-48390400	Weak transcription	Lung	lung
36	chr8:48386400-48392000	Weak transcription	HepG2	liver
37	chr8:48386600-48392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:48386800-48388800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:48387000-48389200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:48387400-48388200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:48387400-48389200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr8:48387600-48388200	Enhancers	Esophagus	oesophagus
43	chr8:48387600-48389200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:48387600-48390600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:48387800-48388400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:48388000-48388400	Weak transcription	Small Intestine	intestine
47	chr8:48388000-48388400	Weak transcription	A549	lung
48	chr8:48388000-48388600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:48388000-48388800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:48388000-48388800	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links