Variant report

Variant	rs72918516
Chromosome Location	chr1:58297953-58297954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72916594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv829937	chr1:58258288-58406506	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58293000-58301000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:58296600-58298600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:58296800-58298600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:58296800-58299600	Enhancers	NHEK	skin
5	chr1:58296800-58299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:58296800-58301600	Enhancers	HMEC	breast
7	chr1:58297000-58298800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:58297200-58298800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:58297200-58299600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:58297200-58299800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:58297200-58300600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:58297400-58298000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:58297400-58298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:58297400-58298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:58297600-58298000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:58297600-58298000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:58297600-58298000	Enhancers	Stomach Mucosa	stomach
18	chr1:58297600-58298400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:58297600-58299200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:58297600-58299200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:58297600-58299400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:58297800-58298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:58297800-58298800	Enhancers	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links