Variant report

Variant	rs28476654
Chromosome Location	chr7:4774603-4774604
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4771014..4776153-chr7:4776925..4780694,6	K562	blood:
2	chr7:4768370..4770170-chr7:4773458..4776418,2	K562	blood:
3	chr7:4721394..4723500-chr7:4773564..4775066,2	MCF-7	breast:
4	chr7:4738046..4740037-chr7:4772327..4775096,2	K562	blood:
5	chr7:4771743..4774713-chr7:4783422..4786273,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10260874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4074260	0.88[AMR][1000 genomes]
rs4724036	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4724037	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58012005	0.88[AMR][1000 genomes]
rs73303381	0.81[AMR][1000 genomes]
rs7807827	1.00[AMR][1000 genomes];0.96[EUR][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	chr7:4765600-4777600	Strong transcription	Fetal Intestine Small	intestine
6	chr7:4765600-4778200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:4765600-4778200	Weak transcription	Aorta	Aorta
8	chr7:4765600-4778200	Weak transcription	Ovary	ovary
9	chr7:4765600-4778400	Weak transcription	Brain Germinal Matrix	brain
10	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
11	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:4765800-4778200	Weak transcription	Osteobl	bone
13	chr7:4765800-4778400	Weak transcription	Fetal Kidney	kidney
14	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:4766000-4778000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:4766000-4778000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:4766000-4778000	Weak transcription	NHDF-Ad	bronchial
18	chr7:4766000-4778200	Weak transcription	Fetal Brain Female	brain
19	chr7:4766000-4778200	Weak transcription	HSMM	muscle
20	chr7:4766000-4778800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:4766000-4783600	Weak transcription	HMEC	breast
22	chr7:4766200-4778200	Weak transcription	Stomach Mucosa	stomach
23	chr7:4766400-4775000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:4766400-4778000	Weak transcription	HUVEC	blood vessel
25	chr7:4766600-4778000	Weak transcription	Liver	Liver
26	chr7:4766800-4776400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:4767200-4775200	Strong transcription	Fetal Intestine Large	intestine
28	chr7:4767600-4774800	Weak transcription	Right Atrium	heart
29	chr7:4767800-4775600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:4768000-4781600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr7:4768200-4778200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:4768400-4778200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:4768800-4777800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:4768800-4778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:4770000-4775000	Enhancers	Fetal Thymus	thymus
36	chr7:4770200-4777000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:4770200-4777000	Weak transcription	Pancreas	Pancrea
38	chr7:4770200-4778200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:4770400-4777000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:4770400-4778200	Weak transcription	Gastric	stomach
41	chr7:4770800-4774800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr7:4770800-4776600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:4771000-4777000	Weak transcription	NHLF	lung
44	chr7:4771000-4777400	Strong transcription	Fetal Stomach	stomach
45	chr7:4771000-4778200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:4771000-4778200	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:4771800-4775000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:4772000-4777200	Weak transcription	Placenta	Placenta
49	chr7:4772200-4775400	Enhancers	Brain Substantia Nigra	brain
50	chr7:4772400-4774800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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