Variant report

Variant	rs1450550
Chromosome Location	chr12:45210133-45210134
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10736022	0.80[AFR][1000 genomes]
rs1376125	0.96[AFR][1000 genomes]
rs1964487	0.80[AFR][1000 genomes]
rs2658962	0.80[AFR][1000 genomes]
rs2658968	0.80[AFR][1000 genomes]
rs2658973	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.80[AFR][1000 genomes]
rs2658974	0.80[AFR][1000 genomes]
rs2703039	0.80[AFR][1000 genomes]
rs2703041	0.80[AFR][1000 genomes]
rs2703045	0.80[AFR][1000 genomes]
rs2710456	0.80[AFR][1000 genomes]
rs376283	0.83[MKK][hapmap]
rs421642	1.00[ASW][hapmap]
rs4257041	0.80[AFR][1000 genomes]
rs4306333	0.80[AFR][1000 genomes]
rs7132477	0.80[AFR][1000 genomes]
rs7964617	0.80[AFR][1000 genomes]
rs7964721	0.80[AFR][1000 genomes]
rs7968547	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45173200-45210200	Weak transcription	Fetal Brain Female	brain
2	chr12:45202600-45211200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:45204400-45210800	Weak transcription	Brain Germinal Matrix	brain
4	chr12:45207000-45220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:45207600-45212400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45207800-45211000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:45207800-45212000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:45208000-45212000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:45208000-45213400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:45208000-45215800	Enhancers	Primary T cells from cord blood	blood
11	chr12:45208200-45210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:45208400-45213200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:45209000-45210200	Weak transcription	Fetal Intestine Large	intestine
14	chr12:45209000-45210200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:45209000-45212600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:45209200-45210200	Weak transcription	Fetal Intestine Small	intestine
17	chr12:45209200-45212000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr12:45209400-45211800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:45209400-45211800	Enhancers	Fetal Brain Male	brain
20	chr12:45209800-45210800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:45209800-45211400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:45209800-45211800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:45210000-45213200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links