Variant report

Variant	rs6492919
Chromosome Location	chr15:40082066-40082067
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40080851..40082524-chr15:40092879..40095618,2	MCF-7	breast:
2	chr15:40081008..40084255-chr15:40089544..40091959,3	MCF-7	breast:
3	chr15:40080889..40083832-chr15:40212318..40214554,2	K562	blood:
4	chr15:40080053..40082265-chr15:40095277..40098030,2	K562	blood:
5	chr15:40080849..40083373-chr15:40085760..40088536,2	K562	blood:
6	chr15:40079722..40082305-chr15:40603620..40606001,2	K562	blood:

Variant related genes	Relation type
ENSG00000259580	Chromatin interaction
ENSG00000166073	Chromatin interaction
ENSG00000246863	Chromatin interaction
ENSG00000259198	Chromatin interaction
ENSG00000244705	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10520153	0.89[CEU][hapmap]
rs1166718	0.92[ASN][1000 genomes]
rs1166722	0.94[ASN][1000 genomes]
rs1166723	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12592687	0.89[ASN][1000 genomes]
rs1688087	0.94[ASN][1000 genomes]
rs2576929	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2576932	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2576933	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2631714	0.96[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2638009	0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs34943556	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4115216	0.92[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4924389	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4924391	0.94[ASN][1000 genomes]
rs592172	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs594863	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs606927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs620407	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6492914	0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6492915	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs66496275	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs670748	0.92[ASN][1000 genomes]
rs7165244	0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs7179417	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8031241	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs8033485	0.85[ASN][1000 genomes]
rs8033957	0.83[CHB][hapmap];0.83[JPT][hapmap]

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	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases
2	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
3	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
2	chr15:40076600-40082400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:40076600-40082600	Weak transcription	Primary T cells from cord blood	blood
4	chr15:40076600-40084200	Weak transcription	Adipose Nuclei	Adipose
5	chr15:40076600-40086200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:40076600-40090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:40076600-40092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:40076800-40082200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:40076800-40082400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:40077200-40082600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:40077200-40082600	Enhancers	NHLF	lung
12	chr15:40077200-40092600	Weak transcription	NHEK	skin
13	chr15:40077200-40093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:40077400-40082600	Enhancers	Osteobl	bone
15	chr15:40077600-40082400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr15:40077600-40094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:40077800-40082600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:40078200-40082400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr15:40078600-40082400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:40078600-40082400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:40078800-40082600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr15:40078800-40082600	Enhancers	NHDF-Ad	bronchial
23	chr15:40079000-40082800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr15:40079400-40082200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:40079600-40082600	Enhancers	Fetal Lung	lung
26	chr15:40080000-40095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:40080200-40084400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:40080400-40084800	Weak transcription	HUVEC	blood vessel
29	chr15:40080400-40095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr15:40080600-40085800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:40081000-40092400	Weak transcription	HSMMtube	muscle
32	chr15:40081200-40082600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr15:40081200-40084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:40081200-40085200	Weak transcription	K562	blood
35	chr15:40081200-40089600	Weak transcription	HSMM	muscle
36	chr15:40081200-40090400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr15:40081200-40092200	Weak transcription	NH-A	brain
38	chr15:40081200-40093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:40081400-40088600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:40081400-40092800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr15:40081400-40100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:40081600-40083200	Weak transcription	Fetal Kidney	kidney
43	chr15:40081600-40084600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:40081600-40085000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:40082000-40082200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:40082000-40082200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:40082000-40082200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr15:40082000-40082400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr15:40082000-40084200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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