Variant report

Variant	rs2164482
Chromosome Location	chr15:40170404-40170405
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	chr15:40169561..40171300-chr15:40175960..40178021,2	K562	blood:
2	chr15:40169522..40171956-chr15:40172179..40175019,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1684931	1.00[EUR][1000 genomes]
rs16969843	1.00[EUR][1000 genomes]
rs16969863	1.00[EUR][1000 genomes]
rs175727	1.00[EUR][1000 genomes]
rs55633725	1.00[EUR][1000 genomes]
rs56058711	1.00[EUR][1000 genomes]
rs56933828	1.00[EUR][1000 genomes]
rs57014511	1.00[EUR][1000 genomes]
rs57761246	1.00[EUR][1000 genomes]
rs58280876	1.00[EUR][1000 genomes]
rs58367323	1.00[EUR][1000 genomes]
rs58436679	1.00[EUR][1000 genomes]
rs58766307	1.00[EUR][1000 genomes]
rs592772	1.00[EUR][1000 genomes]
rs59701034	1.00[EUR][1000 genomes]
rs60642936	1.00[EUR][1000 genomes]
rs643897	1.00[EUR][1000 genomes]
rs644743	1.00[EUR][1000 genomes]
rs655289	1.00[EUR][1000 genomes]
rs7179252	1.00[EUR][1000 genomes]
rs74008875	1.00[EUR][1000 genomes]
rs74008885	1.00[EUR][1000 genomes]
rs74008889	1.00[EUR][1000 genomes]
rs74008890	1.00[EUR][1000 genomes]
rs74008974	1.00[EUR][1000 genomes]
rs74008978	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40150000-40171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:40162400-40187000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:40163200-40174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:40164600-40176000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:40164800-40175000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:40165000-40176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:40165200-40176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:40166800-40172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:40167400-40173000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:40167800-40176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:40168000-40174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:40168000-40174400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr15:40169000-40171400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:40169000-40175200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:40169200-40170800	Enhancers	HSMMtube	muscle
16	chr15:40169400-40170600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:40169400-40170600	Enhancers	K562	blood
18	chr15:40169400-40171200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:40169400-40172600	Enhancers	Hela-S3	cervix
20	chr15:40169400-40173200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:40169400-40175200	Enhancers	NHDF-Ad	bronchial
22	chr15:40169600-40170800	Enhancers	A549	lung
23	chr15:40169600-40171200	Enhancers	HMEC	breast
24	chr15:40169600-40178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr15:40169800-40170800	Enhancers	NHEK	skin
26	chr15:40169800-40174200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:40170000-40171000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40170000-40171400	Enhancers	Fetal Brain Male	brain
29	chr15:40170000-40171600	Enhancers	NH-A	brain
30	chr15:40170200-40170600	Flanking Active TSS	Osteobl	bone
31	chr15:40170200-40171000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:40170200-40171200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:40170200-40171400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr15:40170200-40171400	Enhancers	HSMM	muscle
35	chr15:40170400-40170600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:40170400-40170600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr15:40170400-40170600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:40170400-40170800	Weak transcription	Placenta	Placenta
39	chr15:40170400-40171000	Enhancers	Fetal Heart	heart
40	chr15:40170400-40172000	Enhancers	NHLF	lung

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