Variant report

Variant	rs295317
Chromosome Location	chr3:141363124-141363125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141361497..141363664-chr3:141364151..141366468,2	MCF-7	breast:
2	chr3:141295089..141297819-chr3:141362383..141363982,2	MCF-7	breast:
3	chr3:141362313..141364967-chr3:141594045..141596596,2	K562	blood:
4	chr3:141362984..141365569-chr3:141367265..141370000,2	MCF-7	breast:
5	chr3:141361664..141363556-chr3:141455269..141458105,3	K562	blood:

Variant related genes	Relation type
ENSG00000114125	Chromatin interaction
ENSG00000069849	Chromatin interaction
ENSG00000155903	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10935431	0.95[JPT][hapmap]
rs12632759	0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13088397	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13089727	0.95[JPT][hapmap]
rs1400685	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1532247	0.93[ASN][1000 genomes]
rs1994845	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2030186	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2030187	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2249481	0.81[ASN][1000 genomes]
rs2640001	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2640006	0.80[ASN][1000 genomes]
rs2640007	0.81[ASN][1000 genomes]
rs2640008	0.81[ASN][1000 genomes]
rs2640015	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2640019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295314	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs295315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34319548	0.86[AMR][1000 genomes]
rs34867571	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4467426	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4634089	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683407	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4683615	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4683616	0.93[ASN][1000 genomes]
rs59312699	0.90[ASN][1000 genomes]
rs6440024	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6440025	0.93[ASN][1000 genomes]
rs6768509	0.95[JPT][hapmap]
rs6774986	0.93[ASN][1000 genomes]
rs6784270	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6784413	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6784623	0.93[ASN][1000 genomes]
rs6791890	0.93[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6805124	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7618625	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7627285	0.93[ASN][1000 genomes]
rs7639695	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7642620	0.93[ASN][1000 genomes]
rs7650428	0.94[ASN][1000 genomes]
rs7650897	0.95[JPT][hapmap]
rs7653258	0.96[ASN][1000 genomes]
rs868767	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs868768	0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs9289635	0.93[ASN][1000 genomes]
rs9289636	0.93[ASN][1000 genomes]
rs9289637	0.93[ASN][1000 genomes]
rs9812758	0.93[ASN][1000 genomes]
rs9841650	0.93[ASN][1000 genomes]
rs9841805	0.92[ASN][1000 genomes]
rs9861838	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141361000-141363800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:141361000-141364000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:141361400-141363800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:141361400-141365400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:141361600-141363600	Weak transcription	HepG2	liver
6	chr3:141361600-141364200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:141362000-141364000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:141362200-141363200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:141362200-141364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:141362400-141363200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:141362400-141363200	Enhancers	Colon Smooth Muscle	Colon
12	chr3:141362600-141363800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:141362600-141363800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:141362600-141366400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:141362800-141363200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:141362800-141363200	Enhancers	Ovary	ovary
17	chr3:141362800-141364000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:141362800-141364200	Enhancers	Fetal Intestine Small	intestine
19	chr3:141362800-141364200	Enhancers	Placenta	Placenta
20	chr3:141363000-141363200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:141363000-141365600	Weak transcription	HSMMtube	muscle

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