Variant report

Variant	rs12681005
Chromosome Location	chr8:10137225-10137226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12678816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12681109	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.86[MEX][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12682489	1.00[CEU][hapmap];0.86[MEX][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13250969	0.82[YRI][hapmap]
rs13275128	0.80[YRI][hapmap]
rs17151550	0.88[CHB][hapmap]
rs28507215	0.85[AMR][1000 genomes]
rs6601442	1.00[CEU][hapmap]

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	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
2	chr8:10128400-10138200	Weak transcription	Fetal Brain Female	brain
3	chr8:10130400-10144200	Weak transcription	Liver	Liver
4	chr8:10130600-10137600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:10133800-10139000	Weak transcription	Fetal Brain Male	brain
6	chr8:10134200-10147600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:10136200-10138200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:10136600-10142800	Weak transcription	Pancreas	Pancrea
9	chr8:10136800-10137400	Enhancers	NHDF-Ad	bronchial
10	chr8:10136800-10137600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10136800-10137800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:10136800-10137800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:10136800-10138400	Enhancers	NHEK	skin
14	chr8:10137000-10137400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:10137000-10137600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:10137000-10137600	Enhancers	HSMM	muscle
17	chr8:10137000-10137800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:10137000-10137800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:10137000-10138200	Enhancers	HMEC	breast
20	chr8:10137000-10138200	Enhancers	NH-A	brain
21	chr8:10137000-10138800	Enhancers	A549	lung
22	chr8:10137200-10137400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:10137200-10137600	Enhancers	Osteobl	bone

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