Variant report

Variant	rs4257041
Chromosome Location	chr12:45220494-45220495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10736022	1.00[AFR][1000 genomes]
rs1224443	1.00[YRI][hapmap]
rs1376125	0.84[AFR][1000 genomes]
rs1450550	0.80[AFR][1000 genomes]
rs1964487	1.00[AFR][1000 genomes]
rs2658953	0.96[AFR][1000 genomes]
rs2658962	1.00[AFR][1000 genomes]
rs2658968	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2658973	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2658974	1.00[AFR][1000 genomes]
rs2703039	1.00[AFR][1000 genomes]
rs2703041	1.00[AFR][1000 genomes]
rs2703045	1.00[AFR][1000 genomes]
rs2710426	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs2710456	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4306333	1.00[AFR][1000 genomes]
rs4768068	1.00[JPT][hapmap]
rs7132477	1.00[AFR][1000 genomes]
rs7964617	1.00[AFR][1000 genomes]
rs7964721	1.00[AFR][1000 genomes]
rs7968547	1.00[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45211600-45227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:45211800-45224600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:45213600-45237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45214000-45224000	Weak transcription	Fetal Brain Female	brain
5	chr12:45219400-45221600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr12:45219600-45221600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:45219800-45221400	Enhancers	Primary T cells from cord blood	blood
8	chr12:45220000-45221400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45220200-45221400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:45220200-45221400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:45220200-45221600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:45220200-45227800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:45220200-45229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:45220400-45220600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:45220400-45220600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr12:45220400-45220600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:45220400-45220600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:45220400-45221200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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