Variant report

Variant	rs4682305
Chromosome Location	chr3:111487581-111487582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111482636..111484637-chr3:111486491..111489104,2	MCF-7	breast:
2	chr3:111485259..111488099-chr3:111489878..111491773,2	K562	blood:
3	chr3:111485439..111489234-chr3:111490972..111493959,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10212300	0.90[ASN][1000 genomes]
rs10470303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10934106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10934107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11710738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711533	0.88[CEU][hapmap]
rs11711582	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12330761	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12490166	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12490595	0.96[ASN][1000 genomes]
rs12496925	0.96[ASN][1000 genomes]
rs12496971	0.96[ASN][1000 genomes]
rs12497012	0.87[ASN][1000 genomes]
rs13069980	0.95[ASN][1000 genomes]
rs13074817	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13079085	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2137595	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4284954	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs4413291	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4431081	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4682057	0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4682299	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4682303	0.93[CEU][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4682312	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs4682314	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs56028731	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62273780	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62275532	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6438008	0.96[ASN][1000 genomes]
rs6438009	0.96[ASN][1000 genomes]
rs6764720	0.85[ASN][1000 genomes]
rs6768713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6777540	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6784753	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6786292	0.82[AFR][1000 genomes]
rs6786386	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6786612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6788543	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6790072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6790079	1.00[ASN][1000 genomes]
rs6792493	0.84[ASN][1000 genomes]
rs6796087	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6802995	0.99[ASN][1000 genomes]
rs7427201	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7609653	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614443	1.00[ASN][1000 genomes]
rs955381	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs959540	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9818574	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9823974	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9825915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9834030	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9838371	1.00[ASN][1000 genomes]
rs9863403	1.00[ASN][1000 genomes]
rs9868171	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868909	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9870656	0.92[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9870823	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111480200-111492000	Enhancers	Liver	Liver
2	chr3:111483200-111487600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:111483200-111489200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:111483800-111487600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:111484200-111487600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:111484400-111487600	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:111484400-111487600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:111484400-111487800	Weak transcription	Fetal Intestine Large	intestine
9	chr3:111484600-111487600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:111485400-111489400	Enhancers	NHDF-Ad	bronchial
11	chr3:111486000-111487600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:111486000-111488400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:111486000-111488800	Enhancers	HSMM	muscle
14	chr3:111486000-111489200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:111486000-111489400	Enhancers	Osteobl	bone
16	chr3:111486600-111488600	Enhancers	NHLF	lung
17	chr3:111486600-111488800	Enhancers	HMEC	breast
18	chr3:111486800-111488600	Enhancers	Stomach Mucosa	stomach
19	chr3:111486800-111490000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:111487000-111487800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:111487000-111488000	Flanking Active TSS	A549	lung
22	chr3:111487000-111488200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:111487000-111488200	Enhancers	Hela-S3	cervix
24	chr3:111487000-111488200	Enhancers	NHEK	skin
25	chr3:111487000-111488600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:111487000-111488600	Enhancers	HUVEC	blood vessel
27	chr3:111487000-111488800	Enhancers	HepG2	liver
28	chr3:111487200-111487600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:111487200-111487600	Flanking Active TSS	HSMMtube	muscle
30	chr3:111487200-111487800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:111487200-111487800	Enhancers	Gastric	stomach
32	chr3:111487200-111488000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:111487200-111488000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:111487200-111488000	Enhancers	Duodenum Mucosa	Duodenum
35	chr3:111487200-111488000	Flanking Active TSS	NH-A	brain
36	chr3:111487200-111488200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:111487200-111488400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:111487200-111489000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:111487200-111489800	Enhancers	Fetal Heart	heart
40	chr3:111487200-111490000	Enhancers	Fetal Muscle Leg	muscle
41	chr3:111487400-111487600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:111487400-111487600	Enhancers	Fetal Muscle Trunk	muscle
43	chr3:111487400-111487800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr3:111487400-111487800	Enhancers	Lung	lung
45	chr3:111487400-111487800	Enhancers	Right Atrium	heart
46	chr3:111487400-111487800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:111487400-111488000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:111487400-111488000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:111487400-111488000	Enhancers	Aorta	Aorta
50	chr3:111487400-111488000	Enhancers	Ovary	ovary

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