Variant report

Variant	rs6947096
Chromosome Location	chr7:4770563-4770564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4721429..4723967-chr7:4770373..4773134,2	MCF-7	breast:
2	chr7:4769819..4771517-chr7:4783314..4786032,2	MCF-7	breast:
3	chr7:4763844..4765734-chr7:4769796..4771945,2	K562	blood:
4	chr7:4760787..4762852-chr7:4770341..4773227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11541132	1.00[AMR][1000 genomes]
rs56025211	1.00[AMR][1000 genomes]
rs57323934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60226766	1.00[AMR][1000 genomes]
rs60814186	1.00[AMR][1000 genomes]
rs61269946	1.00[AMR][1000 genomes]
rs73303367	1.00[AMR][1000 genomes]
rs73303392	0.92[AFR][1000 genomes]
rs73305304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305327	1.00[AMR][1000 genomes]
rs73305336	1.00[AMR][1000 genomes]
rs73305389	1.00[AMR][1000 genomes]
rs73305393	1.00[AMR][1000 genomes]
rs73310599	1.00[AMR][1000 genomes]
rs73312647	1.00[AMR][1000 genomes]
rs73316110	1.00[AMR][1000 genomes]
rs73318118	1.00[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	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4753400-4774800	Weak transcription	K562	blood
2	chr7:4756400-4776800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:4757200-4778800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:4765400-4778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:4765600-4771600	Weak transcription	NHEK	skin
6	chr7:4765600-4773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:4765600-4777600	Strong transcription	Fetal Intestine Small	intestine
8	chr7:4765600-4778200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:4765600-4778200	Weak transcription	Aorta	Aorta
10	chr7:4765600-4778200	Weak transcription	Ovary	ovary
11	chr7:4765600-4778400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
13	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:4765800-4773400	Weak transcription	Psoas Muscle	Psoas
15	chr7:4765800-4778200	Weak transcription	Osteobl	bone
16	chr7:4765800-4778400	Weak transcription	Fetal Kidney	kidney
17	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:4766000-4771800	Weak transcription	Primary B cells from cord blood	blood
19	chr7:4766000-4771800	Weak transcription	GM12878-XiMat	blood
20	chr7:4766000-4772000	Weak transcription	A549	lung
21	chr7:4766000-4773000	Weak transcription	NH-A	brain
22	chr7:4766000-4773400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:4766000-4773400	Weak transcription	HSMMtube	muscle
24	chr7:4766000-4778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:4766000-4778000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:4766000-4778000	Weak transcription	NHDF-Ad	bronchial
27	chr7:4766000-4778200	Weak transcription	Fetal Brain Female	brain
28	chr7:4766000-4778200	Weak transcription	HSMM	muscle
29	chr7:4766000-4778800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:4766000-4783600	Weak transcription	HMEC	breast
31	chr7:4766200-4778200	Weak transcription	Stomach Mucosa	stomach
32	chr7:4766400-4775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:4766400-4778000	Weak transcription	HUVEC	blood vessel
34	chr7:4766600-4773000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr7:4766600-4778000	Weak transcription	Liver	Liver
36	chr7:4766800-4772000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:4766800-4776400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:4767000-4772400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:4767200-4770600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:4767200-4770800	Strong transcription	HepG2	liver
41	chr7:4767200-4775200	Strong transcription	Fetal Intestine Large	intestine
42	chr7:4767400-4770600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:4767400-4771000	Strong transcription	NHLF	lung
44	chr7:4767600-4774800	Weak transcription	Right Atrium	heart
45	chr7:4767800-4773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:4767800-4775600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:4768000-4770600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr7:4768200-4771400	Weak transcription	Placenta	Placenta
50	chr7:4768200-4771600	Weak transcription	Rectal Mucosa Donor 29	rectum

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