Variant report

Variant	rs1507331
Chromosome Location	chr1:209516897-209516898
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1006316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1006317	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10494920	0.82[AMR][1000 genomes]
rs10494921	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11811038	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs12135550	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1354850	0.88[ASN][1000 genomes]
rs1354852	0.88[ASN][1000 genomes]
rs1354853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1395753	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1507336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17014320	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014323	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17014337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17014370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17014375	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17014395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17014396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1857967	0.92[CHB][hapmap]
rs4844473	0.89[ASN][1000 genomes]
rs4844807	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844809	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4844815	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4844820	0.85[ASN][1000 genomes]
rs4844821	0.89[ASN][1000 genomes]
rs55684110	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58017268	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60460414	0.86[ASN][1000 genomes]
rs60534728	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6674793	0.88[ASN][1000 genomes]
rs6681466	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74155473	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7516864	0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs7548184	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209506200-209524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:209513000-209517200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:209513000-209518600	Enhancers	Fetal Brain Male	brain
4	chr1:209513600-209517600	Enhancers	Fetal Brain Female	brain
5	chr1:209514400-209517200	Enhancers	Fetal Muscle Leg	muscle
6	chr1:209515400-209517000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:209515800-209517800	Enhancers	Colon Smooth Muscle	Colon
8	chr1:209515800-209522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:209515800-209524200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:209516200-209517000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:209516200-209517000	Active TSS	NHLF	lung
12	chr1:209516200-209517200	Weak transcription	Fetal Stomach	stomach
13	chr1:209516600-209517000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:209516600-209517800	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:209516800-209517000	Enhancers	Brain Germinal Matrix	brain
16	chr1:209516800-209517000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:209516800-209517200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:209516800-209522600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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