Variant report

Variant	rs71476763
Chromosome Location	chr15:56276719-56276720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56275489..56279024-chr15:56279462..56282619,5	K562	blood:
2	chr15:56275489..56278398-chr15:56279462..56282619,4	K562	blood:
3	chr15:56274993..56280197-chr15:56282390..56286830,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069869	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1112535	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909996	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12911653	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12913147	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12913423	0.92[ASN][1000 genomes]
rs12915953	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976674	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036738	0.86[ASN][1000 genomes]
rs2036740	0.92[ASN][1000 genomes]
rs2899595	0.93[EUR][1000 genomes]
rs34077395	0.92[ASN][1000 genomes]
rs34236916	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34330530	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34841076	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35215716	0.88[EUR][1000 genomes]
rs35301686	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35460567	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35662811	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710039	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35836088	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35911067	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35926005	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35967908	0.92[ASN][1000 genomes]
rs57683252	0.89[EUR][1000 genomes]
rs62046376	0.92[ASN][1000 genomes]
rs71476762	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71476768	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161742	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7179929	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56229600-56282600	Weak transcription	NHLF	lung
2	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:56236800-56282800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:56248200-56285200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:56251600-56281600	Weak transcription	Osteobl	bone
6	chr15:56253600-56282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:56257600-56281600	Weak transcription	Fetal Intestine Large	intestine
8	chr15:56257600-56283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:56257600-56283800	Weak transcription	Primary T cells from cord blood	blood
10	chr15:56263800-56282400	Weak transcription	Fetal Intestine Small	intestine
11	chr15:56269400-56282400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:56270400-56281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:56272600-56284200	Weak transcription	Lung	lung
14	chr15:56272800-56281600	Weak transcription	Psoas Muscle	Psoas
15	chr15:56273000-56281600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:56273000-56283000	Weak transcription	HSMMtube	muscle
17	chr15:56273800-56277000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:56274000-56281600	Weak transcription	HSMM	muscle
19	chr15:56274400-56283800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:56274400-56283800	Weak transcription	NH-A	brain
21	chr15:56274400-56284000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:56274600-56278000	Weak transcription	Hela-S3	cervix
23	chr15:56274800-56282800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:56274800-56282800	Weak transcription	A549	lung
25	chr15:56275200-56276800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:56275400-56283000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:56275600-56284000	Weak transcription	Aorta	Aorta
28	chr15:56275600-56284200	Weak transcription	Left Ventricle	heart
29	chr15:56276000-56277600	Enhancers	HUVEC	blood vessel
30	chr15:56276200-56276800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:56276200-56277000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr15:56276200-56277400	Enhancers	NHEK	skin
33	chr15:56276400-56277400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:56276400-56277800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:56276400-56285000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:56276600-56277000	Enhancers	HMEC	breast
37	chr15:56276600-56277600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:56276600-56282800	Weak transcription	NHDF-Ad	bronchial
39	chr15:56276600-56284000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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