Variant report

Variant	rs1377119
Chromosome Location	chr16:80691681-80691682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80690511..80692099-chr16:80709301..80711320,2	MCF-7	breast:
2	chr16:80577485..80580342-chr16:80689346..80691790,2	MCF-7	breast:
3	chr16:80690433..80692139-chr16:80693277..80695460,2	K562	blood:

Variant related genes	Relation type
ENSG00000168589	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10514505	0.82[CEU][hapmap]
rs10871391	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11859496	0.82[CEU][hapmap]
rs11861803	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12444299	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12448651	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13331233	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1452505	0.87[EUR][1000 genomes]
rs17752269	0.82[CEU][hapmap]
rs2123284	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2316152	0.86[CEU][hapmap]
rs4061956	0.85[ASN][1000 genomes]
rs4613082	0.85[ASN][1000 genomes]
rs4888105	0.85[ASN][1000 genomes]
rs4889188	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4889189	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4889190	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs4889191	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889192	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889193	0.86[CEU][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4889194	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs6564778	0.84[ASN][1000 genomes]
rs7189183	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs7190973	0.82[CEU][hapmap]
rs7195952	0.82[CEU][hapmap]
rs8048112	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8053722	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8055716	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs896629	0.81[CEU][hapmap]
rs9888872	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9889160	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9930141	1.00[CEU][hapmap];0.86[CHB][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9931314	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80685800-80691800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:80687200-80692400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:80688200-80692800	Weak transcription	Aorta	Aorta
6	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
7	chr16:80689800-80700200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr16:80690000-80694600	Weak transcription	Hela-S3	cervix
9	chr16:80690200-80691800	Enhancers	HUVEC	blood vessel
10	chr16:80690600-80728000	Weak transcription	Gastric	stomach
11	chr16:80690800-80703200	Weak transcription	Esophagus	oesophagus
12	chr16:80691000-80691800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr16:80691000-80691800	Enhancers	Duodenum Mucosa	Duodenum
14	chr16:80691000-80692200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr16:80691000-80692200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr16:80691000-80704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr16:80691200-80691800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr16:80691200-80691800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr16:80691200-80692000	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr16:80691400-80692000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:80691400-80692000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr16:80691600-80691800	Enhancers	GM12878-XiMat	blood

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