Variant report

Variant	rs7632511
Chromosome Location	chr3:47000028-47000029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46988825..46991481-chr3:46997444..47000413,2	MCF-7	breast:
2	chr3:46997668..47000138-chr3:47008778..47011598,2	MCF-7	breast:
3	chr3:46993850..46995776-chr3:46997950..47000879,2	MCF-7	breast:
4	chr3:46987457..46990723-chr3:46999774..47002993,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10510753	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17079331	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17079336	0.99[AFR][1000 genomes]
rs2385870	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4515087	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57246717	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57313197	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58840220	0.84[AFR][1000 genomes]
rs59321380	0.84[AFR][1000 genomes]
rs6442051	0.83[AFR][1000 genomes]
rs72905877	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72905900	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72907932	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs72907946	0.80[AFR][1000 genomes]
rs7612808	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1009396	chr3:46994991-47048166	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:46988000-47003200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46989800-47000600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:46989800-47000600	Weak transcription	NHDF-Ad	bronchial
5	chr3:46989800-47001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:46990200-47000800	Weak transcription	Fetal Brain Female	brain
8	chr3:46991000-47000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:46991000-47001400	Weak transcription	Osteobl	bone
10	chr3:46991200-47000200	Enhancers	Duodenum Mucosa	Duodenum
11	chr3:46991200-47000800	Weak transcription	Fetal Kidney	kidney
12	chr3:46991400-47000200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:46991400-47000400	Weak transcription	HMEC	breast
14	chr3:46992000-47001400	Weak transcription	NHLF	lung
15	chr3:46993400-47003600	Enhancers	Fetal Heart	heart
16	chr3:46993600-47003200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr3:46994200-47001200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:46994200-47001600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:46994200-47002200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:46994200-47003200	Genic enhancers	Fetal Intestine Small	intestine
21	chr3:46994800-47001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:46995000-47001600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:46995400-47002200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr3:46995400-47003200	Enhancers	Fetal Intestine Large	intestine
25	chr3:46995400-47003400	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:46995600-47000400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:46995600-47004200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:46995800-47000200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr3:46995800-47000200	Weak transcription	HUVEC	blood vessel
30	chr3:46995800-47001400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:46995800-47001400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:46995800-47002400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:46995800-47003200	Enhancers	Primary B cells from cord blood	blood
34	chr3:46995800-47005200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:46996000-47000800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:46996000-47001400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:46996000-47001400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:46996000-47001600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr3:46996000-47004200	Enhancers	Primary T cells from cord blood	blood
40	chr3:46996000-47004600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:46996000-47004800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:46996000-47007200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:46996400-47000600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:46996400-47005000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr3:46996600-47001600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:46996600-47002600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr3:46996600-47003600	Enhancers	Stomach Mucosa	stomach
48	chr3:46996800-47001400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:46997400-47000200	Weak transcription	HSMM	muscle
50	chr3:46997600-47000200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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