Variant report

Variant	rs61180375
Chromosome Location	chr4:122708689-122708690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122707279..122709702-chr4:122712277..122713983,2	MCF-7	breast:
2	chr4:122707344..122709734-chr4:122714569..122716206,2	MCF-7	breast:
3	chr4:122616437..122619642-chr4:122706327..122710278,3	K562	blood:

Variant related genes	Relation type
ENSG00000164111	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1051881	0.91[ASN][1000 genomes]
rs1803183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3217767	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077754	1.00[ASN][1000 genomes]
rs55685419	1.00[ASN][1000 genomes]
rs55803709	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030020	1.00[ASN][1000 genomes]
rs56221685	1.00[ASN][1000 genomes]
rs56300111	1.00[ASN][1000 genomes]
rs57779372	1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs59268194	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60240575	1.00[ASN][1000 genomes]
rs61434837	0.91[ASN][1000 genomes]
rs61665948	1.00[ASN][1000 genomes]
rs6823340	1.00[ASN][1000 genomes]
rs6825926	1.00[ASN][1000 genomes]
rs6830453	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836544	1.00[ASN][1000 genomes]
rs6854295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858061	1.00[ASN][1000 genomes]
rs72913991	1.00[EUR][1000 genomes]
rs72919964	1.00[EUR][1000 genomes]
rs73844293	1.00[ASN][1000 genomes]
rs73844294	1.00[ASN][1000 genomes]
rs73844297	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73844298	1.00[ASN][1000 genomes]
rs73847203	1.00[ASN][1000 genomes]
rs73847204	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847205	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73847206	1.00[ASN][1000 genomes]
rs7684547	0.83[ASN][1000 genomes]
rs769243	1.00[ASN][1000 genomes]
rs769245	1.00[EUR][1000 genomes]
rs7694815	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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122706800-122710400	Weak transcription	HUVEC	blood vessel
2	chr4:122706800-122713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:122706800-122713200	Enhancers	NHDF-Ad	bronchial
4	chr4:122707000-122709200	Weak transcription	K562	blood
5	chr4:122707000-122710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:122707000-122711400	Weak transcription	A549	lung
7	chr4:122707200-122709200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:122707200-122709200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:122707200-122709400	Weak transcription	NH-A	brain
10	chr4:122707200-122709800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:122707200-122710600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:122707400-122710400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:122707400-122710400	Weak transcription	Hela-S3	cervix
14	chr4:122707400-122710600	Weak transcription	HMEC	breast
15	chr4:122707600-122709600	Weak transcription	NHLF	lung
16	chr4:122707600-122710200	Weak transcription	NHEK	skin
17	chr4:122707600-122711000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:122708000-122709000	Weak transcription	HSMM	muscle
19	chr4:122708000-122709400	Weak transcription	HSMMtube	muscle
20	chr4:122708000-122710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:122708000-122711200	Weak transcription	Fetal Heart	heart
22	chr4:122708200-122709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:122708200-122709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:122708400-122708800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:122708400-122708800	Weak transcription	Osteobl	bone

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