Variant report

Variant	rs59951148
Chromosome Location	chr7:80349775-80349776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12113860	1.00[EUR][1000 genomes]
rs1527475	1.00[EUR][1000 genomes]
rs1949971	1.00[EUR][1000 genomes]
rs57727876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73370826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73370828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386827	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386865	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386867	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386870	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386873	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386879	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80342600-80351000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:80348600-80350000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr7:80348600-80350000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80348600-80351600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:80348600-80351600	Enhancers	Osteobl	bone
6	chr7:80348600-80352200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:80348600-80353200	Enhancers	NHDF-Ad	bronchial
8	chr7:80348600-80354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:80348600-80354800	Enhancers	HSMMtube	muscle
10	chr7:80348600-80356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:80348800-80349800	Weak transcription	NHEK	skin
12	chr7:80348800-80350400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:80348800-80351400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:80348800-80351600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:80348800-80352000	Weak transcription	Fetal Brain Male	brain
16	chr7:80349000-80350600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:80349000-80350600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:80349000-80350600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:80349000-80350800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:80349000-80350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:80349000-80350800	Weak transcription	HMEC	breast
22	chr7:80349000-80350800	Weak transcription	NH-A	brain
23	chr7:80349000-80352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:80349200-80350600	Enhancers	A549	lung
25	chr7:80349600-80350600	Weak transcription	HSMM	muscle
26	chr7:80349600-80350600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:80349600-80351600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:80349600-80353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:80349600-80355200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:80349600-80355600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links