Variant report

Variant	rs1152475
Chromosome Location	chr14:56776426-56776427
allele	G/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:25)

rs_ID	r²[population]
rs1028972	1.00[CHB][hapmap];0.85[JPT][hapmap];0.98[ASN][1000 genomes]
rs1152473	0.95[CHB][hapmap];0.85[JPT][hapmap];0.97[ASN][1000 genomes]
rs1152474	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1152476	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1152481	0.97[ASN][1000 genomes]
rs1152483	0.88[ASN][1000 genomes]
rs1152487	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1152490	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1152491	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1188692	0.87[ASN][1000 genomes]
rs1979420	0.81[JPT][hapmap]
rs242393	0.81[JPT][hapmap]
rs242398	0.84[CHB][hapmap]
rs242410	0.84[CHB][hapmap]
rs242417	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs242579	0.82[CHB][hapmap]
rs242588	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs242592	0.84[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs242593	0.83[ASN][1000 genomes]
rs242594	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs34175054	0.94[ASN][1000 genomes]
rs375156	0.85[JPT][hapmap]
rs429676	0.85[JPT][hapmap]
rs754689	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs754690	0.84[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:56759000-56777000	Weak transcription	Left Ventricle	heart
3	chr14:56764400-56785600	Weak transcription	Lung	lung
4	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
5	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
6	chr14:56765200-56776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:56766400-56776800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:56767600-56777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:56767800-56777200	Weak transcription	NH-A	brain
10	chr14:56768600-56784600	Weak transcription	Dnd41	blood
11	chr14:56769800-56780200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:56776000-56777400	Enhancers	Aorta	Aorta
14	chr14:56776000-56780400	Weak transcription	Fetal Brain Female	brain
15	chr14:56776200-56776600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:56776200-56779400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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