Variant report

Variant	rs10808490
Chromosome Location	chr8:118970443-118970444
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	chr8:118968228..118970713-chr8:118979031..118981216,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505323	1.00[AMR][1000 genomes]
rs11562674	1.00[AMR][1000 genomes]
rs11562740	1.00[AMR][1000 genomes]
rs11562778	1.00[AMR][1000 genomes]
rs11562824	0.83[YRI][hapmap];0.97[AFR][1000 genomes]
rs11562825	1.00[AMR][1000 genomes]
rs11987653	1.00[YRI][hapmap]
rs17475813	1.00[AMR][1000 genomes]
rs17504547	1.00[AMR][1000 genomes]
rs17505016	1.00[YRI][hapmap]
rs17505030	1.00[YRI][hapmap]
rs6989086	1.00[AMR][1000 genomes]
rs73322086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118960600-118971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:118966600-118971400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:118966800-118971400	Weak transcription	Pancreas	Pancrea
4	chr8:118966800-118971800	Weak transcription	Right Ventricle	heart
5	chr8:118967000-118972200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:118967200-118970600	Enhancers	Fetal Lung	lung
7	chr8:118967200-118971800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:118967400-118971800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:118967600-118971600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:118968000-118970600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:118968000-118970600	Enhancers	Liver	Liver
12	chr8:118968200-118970600	Weak transcription	Gastric	stomach
13	chr8:118968200-118971600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:118968600-118970600	Enhancers	Stomach Mucosa	stomach
15	chr8:118968800-118972800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:118969000-118970600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:118969000-118971600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr8:118969000-118971800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:118969000-118972200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:118969000-118974600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:118969200-118970800	Enhancers	Dnd41	blood
22	chr8:118969200-118971400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:118969200-118972200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:118969200-118972800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:118969400-118970600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:118969400-118970600	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:118969400-118971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:118969600-118970600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:118969600-118971400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:118969800-118970600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:118969800-118970600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:118969800-118970600	Enhancers	Fetal Kidney	kidney
33	chr8:118969800-118970800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:118969800-118971200	Weak transcription	Esophagus	oesophagus
35	chr8:118969800-118971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:118969800-118971400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:118969800-118971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:118969800-118971400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr8:118969800-118986800	Weak transcription	Lung	lung
40	chr8:118970000-118970600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr8:118970000-118970600	Enhancers	Adipose Nuclei	Adipose
42	chr8:118970000-118970600	Enhancers	Colon Smooth Muscle	Colon
43	chr8:118970000-118970600	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:118970000-118970800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:118970000-118971000	Weak transcription	Fetal Intestine Large	intestine
46	chr8:118970000-118971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:118970000-118971200	Weak transcription	Aorta	Aorta
48	chr8:118970000-118971200	Weak transcription	Psoas Muscle	Psoas
49	chr8:118970000-118971400	Weak transcription	Left Ventricle	heart
50	chr8:118970000-118971400	Weak transcription	Ovary	ovary

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