Variant report

Variant	rs56172805
Chromosome Location	chr3:98626189-98626190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98619287..98623139-chr3:98625512..98627291,3	K562	blood:
2	chr3:98609933..98612061-chr3:98623742..98626335,2	K562	blood:
3	chr3:98620298..98622928-chr3:98626076..98627807,2	MCF-7	breast:
4	chr3:98619082..98623514-chr3:98623819..98627236,6	K562	blood:

Variant related genes	Relation type
ENSG00000239462	Chromatin interaction
ENSG00000057019	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10084679	0.88[ASN][1000 genomes]
rs12330381	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13317610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13318960	0.85[AMR][1000 genomes]
rs13320266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13320890	0.85[EUR][1000 genomes]
rs13322253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13327449	0.88[EUR][1000 genomes]
rs13327485	0.88[EUR][1000 genomes]
rs28417568	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28429424	0.82[ASN][1000 genomes]
rs28489284	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28528154	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28650813	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28821579	0.94[EUR][1000 genomes]
rs28883308	0.88[EUR][1000 genomes]
rs3796133	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56857413	0.94[ASN][1000 genomes]
rs57962467	0.94[ASN][1000 genomes]
rs59906228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72932691	0.82[ASN][1000 genomes]
rs72932700	0.83[ASN][1000 genomes]
rs72934623	0.88[ASN][1000 genomes]
rs72934641	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72938540	0.86[EUR][1000 genomes]
rs72938577	0.94[ASN][1000 genomes]
rs9289696	0.86[EUR][1000 genomes]
rs9289699	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9289700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9810407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9812438	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9818215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819279	0.86[EUR][1000 genomes]
rs9819309	0.94[EUR][1000 genomes]
rs9828045	0.94[EUR][1000 genomes]
rs9833945	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838238	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838706	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9842226	0.86[EUR][1000 genomes]
rs9848335	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9848583	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850469	0.86[EUR][1000 genomes]
rs9852889	0.86[EUR][1000 genomes]
rs9859042	0.86[EUR][1000 genomes]
rs9862660	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9864010	0.86[EUR][1000 genomes]
rs9870500	0.82[ASN][1000 genomes]
rs9870940	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9872073	0.85[EUR][1000 genomes]
rs9872301	0.88[EUR][1000 genomes]
rs9879302	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9883751	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98623000-98628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:98623600-98636400	Weak transcription	Fetal Heart	heart
3	chr3:98624800-98626600	Enhancers	NHLF	lung
4	chr3:98625000-98626200	Enhancers	HSMM	muscle
5	chr3:98625000-98626400	Enhancers	Osteobl	bone
6	chr3:98625200-98626400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:98625400-98636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:98625600-98626200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:98625600-98626400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:98625600-98626400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:98625600-98637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:98625800-98626600	Enhancers	A549	lung
13	chr3:98626000-98626400	Enhancers	NH-A	brain

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