Variant report

Variant	rs7597990
Chromosome Location	chr2:179909267-179909268
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:3)

rs_ID	r²[population]
rs17362909	0.87[AFR][1000 genomes]
rs6732629	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9753404	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875463	chr2:179843612-179909467	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv875466	chr2:179856777-179909467	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179897200-179910600	Weak transcription	Fetal Intestine Large	intestine
2	chr2:179897400-179910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr2:179897400-179913000	Weak transcription	Thymus	Thymus
4	chr2:179897400-179913400	Weak transcription	Fetal Thymus	thymus
5	chr2:179897400-179913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:179897600-179912600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:179897600-179913800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:179903200-179910400	Weak transcription	Fetal Heart	heart
9	chr2:179906800-179911600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:179907400-179913200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:179907600-179912800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:179908200-179909600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:179908200-179909800	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179908400-179909600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:179908400-179909800	Enhancers	Primary B cells from peripheral blood	blood
16	chr2:179908600-179910800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:179908800-179913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:179909000-179909400	Enhancers	Spleen	Spleen
19	chr2:179909000-179909600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:179909000-179909600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:179909000-179909600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr2:179909000-179909600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr2:179909000-179909600	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:179909000-179909800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:179909200-179909400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:179909200-179909400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:179909200-179909400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:179909200-179909400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr2:179909200-179909400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:179909200-179909400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:179909200-179909400	Enhancers	Adipose Nuclei	Adipose
32	chr2:179909200-179909400	Enhancers	Pancreas	Pancrea
33	chr2:179909200-179909400	Enhancers	Psoas Muscle	Psoas
34	chr2:179909200-179909400	Genic enhancers	Right Ventricle	heart
35	chr2:179909200-179909400	ZNF genes & repeats	HSMMtube	muscle
36	chr2:179909200-179909600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr2:179909200-179909600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:179909200-179909600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:179909200-179909600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:179909200-179909600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:179909200-179909600	Genic enhancers	Left Ventricle	heart
42	chr2:179909200-179909800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:179909200-179911200	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links