Variant report

Variant	rs12330761
Chromosome Location	chr3:111462910-111462911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111452077..111454237-chr3:111460686..111462940,2	K562	blood:
2	chr3:111459238..111460946-chr3:111462346..111465281,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10470303	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11710738	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11711533	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap]
rs11711582	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12632310	0.81[JPT][hapmap]
rs2137595	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs4413291	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs4682057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4682298	0.82[CEU][hapmap];0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4682299	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4682303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4682305	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4682312	0.85[CEU][hapmap]
rs4682314	0.88[CEU][hapmap]
rs56028731	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62273780	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62275532	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6438003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6784753	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6786612	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6788543	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6796087	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609653	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs955381	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959540	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9818574	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9823974	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9868171	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9868909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9870656	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111454800-111464400	Weak transcription	Placenta	Placenta
2	chr3:111456200-111465600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:111458000-111467000	Weak transcription	Right Ventricle	heart
4	chr3:111458600-111464400	Weak transcription	Psoas Muscle	Psoas
5	chr3:111458600-111467200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:111458800-111464800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:111458800-111466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:111459000-111466400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:111459000-111466400	Weak transcription	NHDF-Ad	bronchial
10	chr3:111459000-111466600	Weak transcription	Stomach Mucosa	stomach
11	chr3:111459200-111464600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:111459200-111466400	Weak transcription	Gastric	stomach
13	chr3:111459200-111466600	Weak transcription	Osteobl	bone
14	chr3:111459400-111465600	Weak transcription	HepG2	liver
15	chr3:111459800-111464200	Weak transcription	Hela-S3	cervix
16	chr3:111460200-111464800	Weak transcription	A549	lung
17	chr3:111460400-111464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:111460400-111464400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:111460400-111464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:111460400-111464600	Weak transcription	HMEC	breast
21	chr3:111460600-111464600	Weak transcription	NHEK	skin
22	chr3:111461800-111463000	Enhancers	Adipose Nuclei	Adipose
23	chr3:111462000-111463200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:111462200-111463200	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:111462200-111463800	Enhancers	Colon Smooth Muscle	Colon
26	chr3:111462400-111466800	Weak transcription	Liver	Liver
27	chr3:111462600-111467000	Weak transcription	Fetal Kidney	kidney
28	chr3:111462600-111468000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr3:111462600-111468000	Weak transcription	Stomach Smooth Muscle	stomach

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