Variant report

Variant	rs1953119
Chromosome Location	chr14:36560824-36560825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36560154..36563074-chr14:36570402..36572579,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10220323	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11156905	0.96[ASN][1000 genomes]
rs11623102	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12432682	0.90[ASN][1000 genomes]
rs12890957	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12896537	0.85[ASN][1000 genomes]
rs1333312	0.99[ASN][1000 genomes]
rs1333313	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1742867	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1952710	0.87[ASN][1000 genomes]
rs1957313	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1957314	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2780312	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs2780314	0.90[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs371191	0.87[ASN][1000 genomes]
rs381529	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs395212	0.83[ASW][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.80[LWK][hapmap];0.87[ASN][1000 genomes]
rs395660	0.87[ASN][1000 genomes]
rs398467	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408558	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs408783	0.87[ASN][1000 genomes]
rs410546	0.89[ASN][1000 genomes]
rs437723	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs448145	0.90[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs4982332	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007774	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs847514	0.87[ASN][1000 genomes]
rs847515	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs944290	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051045	chr14:36116503-36764947	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv542038	chr14:36116503-36764947	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1051147	chr14:36413342-36562863	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1041441	chr14:36545463-36756347	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv542041	chr14:36545463-36756347	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr14:36559600-36561200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:36559800-36561000	Enhancers	NH-A	brain
3	chr14:36559800-36561200	Enhancers	HepG2	liver
4	chr14:36559800-36561600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:36560000-36561200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:36560200-36561000	Enhancers	HMEC	breast
7	chr14:36560200-36561000	Enhancers	NHEK	skin
8	chr14:36560200-36561200	Enhancers	Stomach Mucosa	stomach
9	chr14:36560400-36561000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:36560400-36561000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:36560400-36561000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:36560600-36561000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:36560600-36561000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:36560600-36561000	Enhancers	Duodenum Mucosa	Duodenum
15	chr14:36560600-36561000	Flanking Active TSS	NHDF-Ad	bronchial
16	chr14:36560600-36561200	Flanking Active TSS	A549	lung
17	chr14:36560800-36561000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:36560800-36563000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:36560800-36565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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