Variant report

Variant	rs4949754
Chromosome Location	chr1:77358638-77358639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11162233	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1252485	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1252579	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1252586	0.81[ASN][1000 genomes]
rs12722889	0.81[EUR][1000 genomes]
rs1273142	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12731790	0.86[CEU][hapmap];0.95[CHB][hapmap]
rs12734069	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs12734254	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs12734482	0.82[EUR][1000 genomes]
rs1357331	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1403244	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1522621	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1522622	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1533849	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533850	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1546319	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1718920	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17368584	0.86[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs1766286	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2103039	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2350526	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28858794	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34654786	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34701857	0.82[EUR][1000 genomes]
rs4562675	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4949752	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4949753	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71658713	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71658714	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7419029	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535901	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9659921	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9660283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9661727	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9662288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9725074	0.89[ASN][1000 genomes]
rs9727199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9793293	0.82[EUR][1000 genomes];0.97[ASN][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	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1005649	chr1:77141039-77398747	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1003386	chr1:77305197-77375536	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77335000-77360000	Weak transcription	Ovary	ovary
2	chr1:77335000-77371000	Weak transcription	Aorta	Aorta
3	chr1:77339000-77360000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:77357000-77373200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:77357200-77359000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:77357200-77359000	Enhancers	NHDF-Ad	bronchial
7	chr1:77357600-77359200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:77357600-77359600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:77357600-77360400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:77357800-77358800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:77357800-77360200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:77358000-77358800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:77358400-77358800	Enhancers	Primary B cells from cord blood	blood
14	chr1:77358400-77358800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:77358400-77358800	Enhancers	Fetal Brain Male	brain
16	chr1:77358400-77358800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:77358400-77359000	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:77358400-77359600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:77358400-77360600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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