Variant report

Variant	rs4963848
Chromosome Location	chr12:25263951-25263952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10505960	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771177	0.82[EUR][1000 genomes]
rs10842473	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10842475	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10842492	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11047823	0.81[ASN][1000 genomes]
rs11047846	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11047854	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11047855	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11047856	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11047865	0.85[EUR][1000 genomes]
rs11513449	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12424685	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12425900	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581134	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12814442	0.83[EUR][1000 genomes]
rs12818169	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12828225	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12828609	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12830058	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12830336	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2291365	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2352782	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2352784	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4559767	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4963850	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61020746	0.86[EUR][1000 genomes]
rs6487456	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7297103	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv2471634	chr12:25263472-25264960	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25209400-25264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:25215000-25265000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:25230000-25264600	Strong transcription	Fetal Thymus	thymus
4	chr12:25238600-25265200	Weak transcription	Lung	lung
5	chr12:25246400-25264000	Weak transcription	Ovary	ovary
6	chr12:25248600-25264400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:25251800-25274600	Weak transcription	Pancreas	Pancrea
8	chr12:25252200-25264000	Weak transcription	Spleen	Spleen
9	chr12:25256000-25265200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:25257000-25264800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:25257400-25264800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:25259800-25264400	Strong transcription	Primary B cells from cord blood	blood
13	chr12:25261000-25264000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:25261000-25265000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:25261000-25268400	Weak transcription	Liver	Liver
16	chr12:25262200-25264800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:25262200-25265000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:25262400-25264000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:25262600-25265000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:25262800-25266200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:25263200-25266000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:25263600-25265200	Weak transcription	Primary T cells from cord blood	blood
23	chr12:25263600-25265400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:25263600-25265400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:25263600-25267600	Weak transcription	Thymus	Thymus
26	chr12:25263600-25268600	Weak transcription	GM12878-XiMat	blood
27	chr12:25263800-25265400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:25263800-25265400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr12:25263800-25265600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:25263800-25267400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:25263800-25288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links