Variant report

Variant	rs1251482
Chromosome Location	chr1:76505161-76505162
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12405897	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12408790	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12411016	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251478	0.93[AFR][1000 genomes]
rs1251479	0.93[AFR][1000 genomes]
rs1251481	0.93[AFR][1000 genomes]
rs1251483	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251500	0.93[AFR][1000 genomes]
rs1251514	1.00[AFR][1000 genomes]
rs1251515	1.00[AFR][1000 genomes]
rs1251516	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251517	0.87[AFR][1000 genomes]
rs1251520	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251521	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1251522	0.81[AMR][1000 genomes]
rs1658741	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17657999	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770894	1.00[AFR][1000 genomes]
rs1770896	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1892480	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2004130	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949620	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949689	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4949692	0.86[AMR][1000 genomes]
rs72988522	1.00[EUR][1000 genomes]
rs946160	0.93[AFR][1000 genomes]
rs946161	0.93[AFR][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2754129	chr1:76489579-76529279	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv870968	chr1:76490234-76552475	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76502200-76507200	Enhancers	Fetal Intestine Large	intestine
2	chr1:76502200-76507400	Enhancers	Fetal Intestine Small	intestine
3	chr1:76503000-76505200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:76503400-76505200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:76503400-76505800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:76503400-76505800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:76503400-76507000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:76503600-76505800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:76503600-76509600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:76504000-76505200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:76504000-76509200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:76504200-76505800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:76504200-76506000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:76504200-76506000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:76504200-76506200	Weak transcription	Fetal Lung	lung
16	chr1:76504200-76506600	Weak transcription	Fetal Stomach	stomach
17	chr1:76504200-76507400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:76504400-76505200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:76504400-76505800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:76504400-76506000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:76504400-76506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:76504800-76505800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:76504800-76505800	Weak transcription	Fetal Kidney	kidney
24	chr1:76505000-76505600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:76505000-76506000	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links