Variant report

Variant	rs12467652
Chromosome Location	chr2:179913593-179913594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10497530	0.96[EUR][1000 genomes]
rs10497531	0.88[EUR][1000 genomes]
rs10497532	0.88[EUR][1000 genomes]
rs11883598	0.88[EUR][1000 genomes]
rs11883599	0.88[EUR][1000 genomes]
rs11883748	0.96[EUR][1000 genomes]
rs11885227	0.88[EUR][1000 genomes]
rs11885400	0.88[EUR][1000 genomes]
rs11885450	0.88[EUR][1000 genomes]
rs11886627	0.86[EUR][1000 genomes]
rs11887988	0.88[EUR][1000 genomes]
rs11890988	0.88[EUR][1000 genomes]
rs11891599	0.88[EUR][1000 genomes]
rs11891608	0.88[EUR][1000 genomes]
rs11891654	0.88[EUR][1000 genomes]
rs11892227	0.97[EUR][1000 genomes]
rs11893153	0.88[EUR][1000 genomes]
rs11893315	0.97[EUR][1000 genomes]
rs11895391	0.88[EUR][1000 genomes]
rs11896002	0.88[EUR][1000 genomes]
rs11896686	0.86[EUR][1000 genomes]
rs11897059	0.88[EUR][1000 genomes]
rs11899563	0.96[EUR][1000 genomes]
rs11901386	0.88[EUR][1000 genomes]
rs11901918	0.88[EUR][1000 genomes]
rs11902355	0.96[EUR][1000 genomes]
rs11903793	0.88[EUR][1000 genomes]
rs12474600	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16866624	0.88[EUR][1000 genomes]
rs17362972	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17363006	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17363057	0.88[EUR][1000 genomes]
rs1875779	0.96[EUR][1000 genomes]
rs1875782	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35465824	0.85[EUR][1000 genomes]
rs35888089	0.88[EUR][1000 genomes]
rs35979436	0.85[EUR][1000 genomes]
rs4435492	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893864	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4991006	0.96[EUR][1000 genomes]
rs61397643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175366	0.97[EUR][1000 genomes]
rs62175367	0.97[EUR][1000 genomes]
rs62175401	0.90[EUR][1000 genomes]
rs62175402	0.93[EUR][1000 genomes]
rs62175403	0.93[EUR][1000 genomes]
rs62175411	0.88[EUR][1000 genomes]
rs62175420	0.88[EUR][1000 genomes]
rs62175421	0.88[EUR][1000 genomes]
rs62175422	0.88[EUR][1000 genomes]
rs62175444	0.88[EUR][1000 genomes]
rs62175990	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175993	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175994	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62175995	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176021	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62176023	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176024	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176026	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62176027	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176028	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62176030	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6433747	0.88[EUR][1000 genomes]
rs6433748	0.88[EUR][1000 genomes]
rs6433749	0.88[EUR][1000 genomes]
rs6433750	0.88[EUR][1000 genomes]
rs6433751	0.88[EUR][1000 genomes]
rs6433752	0.88[EUR][1000 genomes]
rs6709090	0.96[EUR][1000 genomes]
rs6716599	0.97[EUR][1000 genomes]
rs6716713	0.97[EUR][1000 genomes]
rs6716728	0.97[EUR][1000 genomes]
rs6731564	0.86[EUR][1000 genomes]
rs6731566	0.81[EUR][1000 genomes]
rs6734597	0.96[EUR][1000 genomes]
rs7574853	0.88[EUR][1000 genomes]
rs7575047	0.88[EUR][1000 genomes]
rs7578521	0.88[EUR][1000 genomes]
rs7578961	0.88[EUR][1000 genomes]
rs7579263	0.88[EUR][1000 genomes]
rs7582862	0.88[EUR][1000 genomes]
rs7588765	0.88[EUR][1000 genomes]
rs7596842	0.88[EUR][1000 genomes]
rs7601179	0.88[EUR][1000 genomes]
rs7609150	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179897400-179913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:179897600-179913800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:179909400-179913800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:179909400-179914000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:179909400-179914000	Weak transcription	Pancreas	Pancrea
6	chr2:179909400-179916000	Weak transcription	Spleen	Spleen
7	chr2:179909600-179916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:179910800-179915800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:179911200-179914400	Weak transcription	Dnd41	blood
10	chr2:179911400-179914400	Weak transcription	Aorta	Aorta
11	chr2:179911600-179914800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:179912000-179915200	Active TSS	Right Atrium	heart
13	chr2:179912400-179913600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:179912400-179914000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr2:179912400-179915400	Active TSS	Fetal Heart	heart
16	chr2:179912600-179914000	Active TSS	Fetal Muscle Leg	muscle
17	chr2:179912600-179914600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:179912600-179915000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:179912600-179915200	Active TSS	Right Ventricle	heart
20	chr2:179912600-179915600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:179912600-179915600	Active TSS	HSMMtube	muscle
22	chr2:179912600-179916200	Enhancers	Fetal Kidney	kidney
23	chr2:179912800-179913600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:179912800-179914000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:179912800-179914800	Active TSS	Left Ventricle	heart
26	chr2:179912800-179915000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:179912800-179915200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr2:179912800-179916000	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:179913000-179913600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr2:179913000-179913600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:179913000-179913800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:179913200-179913600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr2:179913200-179913600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:179913200-179913800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:179913200-179913800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:179913200-179914000	Enhancers	Fetal Intestine Small	intestine
37	chr2:179913200-179914200	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr2:179913200-179914200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr2:179913200-179914200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:179913200-179914200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr2:179913200-179914200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:179913200-179914800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:179913200-179915000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr2:179913200-179915200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:179913200-179915200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:179913400-179913600	Enhancers	Adipose Nuclei	Adipose
47	chr2:179913400-179913600	Enhancers	Fetal Thymus	thymus
48	chr2:179913400-179913800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:179913400-179913800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr2:179913400-179913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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