Variant report

Variant	rs57764212
Chromosome Location	chr7:80526288-80526289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:80525666..80528022-chr7:80693500..80695168,2	MCF-7	breast:
2	chr7:80516099..80517943-chr7:80525390..80527028,2	MCF-7	breast:
3	chr7:80509556..80514314-chr7:80524516..80526968,4	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11977933	1.00[AMR][1000 genomes]
rs61513924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374868	1.00[AMR][1000 genomes]
rs73374880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374893	1.00[AMR][1000 genomes]
rs73374896	1.00[AMR][1000 genomes]
rs73374898	1.00[AMR][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	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80471800-80532600	Weak transcription	Fetal Stomach	stomach
2	chr7:80500200-80534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:80513400-80533400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:80513800-80530200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:80514600-80529800	Weak transcription	Hela-S3	cervix
6	chr7:80514800-80529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:80515000-80546400	Weak transcription	Left Ventricle	heart
8	chr7:80517800-80531200	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:80517800-80544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:80518400-80531200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:80520400-80530000	Weak transcription	HSMMtube	muscle
12	chr7:80520600-80535400	Weak transcription	Fetal Kidney	kidney
13	chr7:80520800-80526400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:80520800-80529800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:80520800-80534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:80520800-80546000	Weak transcription	Ovary	ovary
17	chr7:80522800-80526400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:80523000-80528200	Genic enhancers	A549	lung
19	chr7:80523600-80529800	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:80523800-80527600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:80524600-80529800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:80525000-80526400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:80525000-80546000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:80525400-80526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:80525600-80526800	Genic enhancers	HSMM	muscle
26	chr7:80525600-80528400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:80525600-80547600	Weak transcription	Gastric	stomach
28	chr7:80525800-80527000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:80525800-80527000	Genic enhancers	NHEK	skin
30	chr7:80525800-80527400	Enhancers	Osteobl	bone
31	chr7:80526000-80526400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr7:80526000-80526400	Enhancers	Right Ventricle	heart
33	chr7:80526000-80526400	Enhancers	Small Intestine	intestine
34	chr7:80526000-80526800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:80526000-80526800	Enhancers	Fetal Intestine Large	intestine
36	chr7:80526000-80527000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:80526000-80527000	Enhancers	NH-A	brain
38	chr7:80526000-80527200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:80526000-80527200	Genic enhancers	HMEC	breast
40	chr7:80526200-80526400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr7:80526200-80526400	Enhancers	Lung	lung
42	chr7:80526200-80526400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:80526200-80526800	Enhancers	Psoas Muscle	Psoas
44	chr7:80526200-80526800	Enhancers	NHLF	lung
45	chr7:80526200-80527000	Enhancers	Fetal Intestine Small	intestine
46	chr7:80526200-80527000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr7:80526200-80527200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:80526200-80527200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:80526200-80528200	Genic enhancers	NHDF-Ad	bronchial
50	chr7:80526200-80528800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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