Variant report

Variant	rs1493943
Chromosome Location	chr8:119878679-119878680
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	chr8:119878339..119879867-chr8:119964065..119966152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164761	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10505346	1.00[CHB][hapmap]
rs10955911	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs11573838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11573896	1.00[CHB][hapmap]
rs11573959	0.82[ASN][1000 genomes]
rs11984630	1.00[CHB][hapmap]
rs11997782	0.86[ASN][1000 genomes]
rs1485287	1.00[CHB][hapmap]
rs17757532	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17758204	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1994276	1.00[CHB][hapmap]
rs2875845	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs3134048	0.82[ASN][1000 genomes]
rs4073354	0.88[ASN][1000 genomes]
rs4130891	0.86[ASN][1000 genomes]
rs61470971	0.84[ASN][1000 genomes]
rs72680365	0.88[ASN][1000 genomes]
rs72680377	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891414	chr8:119755490-119881550	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv831444	chr8:119757355-119915966	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv470234	chr8:119856209-119906530	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv517081	chr8:119872439-119886889	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119874400-119880400	Weak transcription	Aorta	Aorta
2	chr8:119875200-119880200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:119875200-119880400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:119876000-119879200	Weak transcription	Liver	Liver
5	chr8:119876200-119878800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:119876200-119879400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:119876200-119880000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:119876400-119880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:119876800-119879400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:119877400-119883400	Enhancers	Fetal Intestine Large	intestine
11	chr8:119877600-119879000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:119877600-119879200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:119877600-119879200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:119877600-119879400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:119877600-119880400	Enhancers	Fetal Kidney	kidney
16	chr8:119877600-119880600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:119877600-119881400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:119877600-119883600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:119877800-119878800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:119878000-119878800	Enhancers	GM12878-XiMat	blood
21	chr8:119878000-119879000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:119878000-119879000	Enhancers	Pancreas	Pancrea
23	chr8:119878000-119879200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:119878000-119879200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:119878000-119879200	Enhancers	Left Ventricle	heart
26	chr8:119878000-119879600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr8:119878000-119879600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:119878000-119879600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr8:119878000-119880400	Enhancers	Fetal Lung	lung
30	chr8:119878000-119883200	Enhancers	Fetal Intestine Small	intestine
31	chr8:119878200-119879200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:119878200-119879200	Enhancers	Brain Germinal Matrix	brain
33	chr8:119878200-119879200	Enhancers	Fetal Brain Male	brain
34	chr8:119878400-119878800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr8:119878400-119878800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:119878600-119878800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr8:119878600-119879000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:119878600-119879000	Enhancers	Right Ventricle	heart
39	chr8:119878600-119879200	Enhancers	Right Atrium	heart
40	chr8:119878600-119879800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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