Variant report

Variant	rs4847319
Chromosome Location	chr1:95095589-95095590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10782983	0.86[CHB][hapmap]
rs10874866	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10874869	0.91[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs10874870	0.85[ASN][1000 genomes]
rs10874872	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11165184	0.86[CHB][hapmap]
rs2971937	0.81[ASN][1000 genomes]
rs2996286	0.81[ASN][1000 genomes]
rs3814018	0.82[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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95089800-95100000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:95089800-95100400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:95090000-95102800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:95090200-95099600	Weak transcription	Fetal Stomach	stomach
5	chr1:95090800-95100600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:95091600-95100400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:95093200-95095800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:95093200-95096000	Enhancers	Fetal Heart	heart
9	chr1:95093200-95096600	Enhancers	Placenta	Placenta
10	chr1:95094200-95095600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:95094200-95096000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:95094800-95095800	Enhancers	HepG2	liver
13	chr1:95094800-95096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:95095000-95095800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:95095000-95095800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:95095000-95095800	Enhancers	Ovary	ovary
17	chr1:95095200-95095800	Enhancers	Fetal Intestine Small	intestine
18	chr1:95095200-95096200	Enhancers	Dnd41	blood
19	chr1:95095400-95095600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:95095400-95095600	Enhancers	NHEK	skin
21	chr1:95095400-95096200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr1:95095400-95099000	Weak transcription	Pancreas	Pancrea
23	chr1:95095400-95100600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:95095400-95100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:95095400-95100600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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