Variant report

Variant	rs8005794
Chromosome Location	chr14:21252821-21252822
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10139501	1.00[AMR][1000 genomes]
rs10148607	1.00[AMR][1000 genomes]
rs57320287	1.00[AMR][1000 genomes]
rs60197111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs762041	1.00[JPT][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1045505	chr14:21168839-21337972	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21250200-21257000	Weak transcription	Lung	lung
2	chr14:21250400-21254600	Weak transcription	Right Ventricle	heart
3	chr14:21250400-21259200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:21250600-21258600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21250800-21256600	Weak transcription	Left Ventricle	heart
6	chr14:21250800-21257000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:21250800-21257000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:21250800-21266600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:21251000-21267800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:21251200-21253800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:21251200-21258800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:21251200-21258800	Weak transcription	Fetal Heart	heart
13	chr14:21251400-21254600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:21251400-21254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:21251800-21254600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:21251800-21259200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:21252000-21254000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:21252000-21254800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:21252200-21257000	Weak transcription	Dnd41	blood
20	chr14:21252400-21253800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:21252400-21254600	Weak transcription	GM12878-XiMat	blood
22	chr14:21252400-21255200	Genic enhancers	Primary B cells from cord blood	blood
23	chr14:21252400-21257400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:21252400-21257600	Weak transcription	Primary T cells from cord blood	blood
25	chr14:21252400-21261400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:21252400-21261800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:21252400-21267800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:21252600-21253000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr14:21252600-21253800	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links