Variant report

Variant	rs11781181
Chromosome Location	chr8:96122997-96122998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96120694..96123843-chr8:96123971..96127404,4	K562	blood:
2	chr8:96107137..96110639-chr8:96122699..96126438,5	MCF-7	breast:
3	chr8:96075113..96084115-chr8:96121900..96127897,13	MCF-7	breast:
4	chr8:95653231..95654962-chr8:96122939..96124823,2	MCF-7	breast:
5	chr8:96120310..96131373-chr8:96143717..96153210,36	MCF-7	breast:
6	chr8:96037280..96038862-chr8:96121146..96123152,3	MCF-7	breast:
7	chr8:96112179..96116026-chr8:96118570..96123385,6	K562	blood:
8	chr8:96121521..96123577-chr8:96125301..96126849,2	K562	blood:
9	chr8:96108303..96116345-chr8:96121938..96127499,21	MCF-7	breast:
10	chr8:96075699..96088634-chr8:96121923..96127068,15	MCF-7	breast:
11	chr8:96122201..96128454-chr8:96143807..96149954,24	MCF-7	breast:
12	chr8:96122158..96124465-chr8:96128048..96130370,2	K562	blood:
13	chr8:96097290..96101998-chr8:96121325..96126808,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000156170	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000104413	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10102994	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10808672	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466169	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1561714	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561715	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172469	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1975425	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2044034	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2583365	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2599726	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2678841	0.84[CEU][hapmap]
rs297550	0.89[CEU][hapmap]
rs297557	0.84[AMR][1000 genomes]
rs4392868	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4735344	1.00[CEU][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4735345	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4735346	0.81[EUR][1000 genomes]
rs4735347	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4735350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56617377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6471516	0.84[CEU][hapmap]
rs6983365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6987741	0.96[EUR][1000 genomes]
rs7000568	1.00[CEU][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7000734	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs732280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7822998	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836804	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7845016	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891207	chr8:96106037-96160914	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96113800-96127800	Weak transcription	Right Ventricle	heart
2	chr8:96115800-96123200	Weak transcription	K562	blood
3	chr8:96121000-96124600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:96121800-96126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:96121800-96127600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:96121800-96128200	Enhancers	Stomach Mucosa	stomach
7	chr8:96122000-96123400	Weak transcription	A549	lung
8	chr8:96122200-96123000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:96122200-96123400	Enhancers	NHEK	skin
10	chr8:96122200-96124200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:96122200-96126600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:96122400-96123000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:96122400-96124000	Enhancers	NHLF	lung
14	chr8:96122400-96126600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr8:96122400-96126800	Enhancers	Pancreas	Pancrea
16	chr8:96122400-96128000	Enhancers	HMEC	breast
17	chr8:96122400-96128200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:96122400-96128400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:96122600-96123000	Weak transcription	Gastric	stomach
20	chr8:96122600-96124000	Enhancers	Osteobl	bone
21	chr8:96122600-96124400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:96122600-96126400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr8:96122800-96124000	Enhancers	HSMMtube	muscle

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