Variant report

Variant	rs16953382
Chromosome Location	chr17:46252906-46252907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46240659..46244208-chr17:46251439..46255142,4	MCF-7	breast:
2	chr17:46252245..46255136-chr17:46259026..46261295,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10514938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11650615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1472966	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs16952265	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17695373	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17696392	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs41280120	1.00[ASN][1000 genomes]
rs41336845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7216504	1.00[ASN][1000 genomes]
rs72823527	1.00[ASN][1000 genomes]
rs72823530	1.00[ASN][1000 genomes]
rs72823534	1.00[ASN][1000 genomes]
rs72823591	1.00[ASN][1000 genomes]
rs72823599	1.00[ASN][1000 genomes]
rs72823601	1.00[ASN][1000 genomes]
rs72825504	1.00[ASN][1000 genomes]
rs72825512	1.00[ASN][1000 genomes]
rs72825517	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825548	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825584	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72827814	1.00[AFR][1000 genomes]
rs72827830	1.00[AFR][1000 genomes]
rs72827832	1.00[AFR][1000 genomes]
rs72827834	1.00[AFR][1000 genomes]
rs72827839	1.00[AFR][1000 genomes]
rs72827876	0.83[AFR][1000 genomes]
rs72827877	0.83[AFR][1000 genomes]
rs8067005	1.00[ASN][1000 genomes]
rs8073371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9904637	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46239200-46253800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:46241000-46253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:46247000-46258600	Weak transcription	Primary B cells from cord blood	blood
4	chr17:46247400-46253000	Weak transcription	Thymus	Thymus
5	chr17:46247800-46254400	Weak transcription	Fetal Thymus	thymus
6	chr17:46248000-46253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:46248200-46253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr17:46250000-46253000	Enhancers	HSMM	muscle
9	chr17:46250200-46253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46250200-46255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:46251000-46257400	Enhancers	HSMMtube	muscle
12	chr17:46251200-46253600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr17:46251200-46254400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46251200-46267200	Strong transcription	Primary T cells from cord blood	blood
15	chr17:46251200-46277400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:46251800-46253200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr17:46251800-46253600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr17:46251800-46254200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:46251800-46256000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46251800-46267400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:46252000-46271400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr17:46252200-46253800	Genic enhancers	GM12878-XiMat	blood
23	chr17:46252200-46254600	Enhancers	Osteobl	bone
24	chr17:46252400-46254000	Enhancers	Primary hematopoietic stem cells	blood
25	chr17:46252400-46254200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:46252400-46254200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr17:46252400-46254600	Enhancers	NH-A	brain
28	chr17:46252600-46253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:46252600-46257000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr17:46252600-46271000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr17:46252800-46253400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:46252800-46253400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:46252800-46253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:46252800-46260200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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