Variant report

Variant	rs11608895
Chromosome Location	chr12:4727776-4727777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11608546	0.96[EUR][1000 genomes]
rs11610044	1.00[CEU][hapmap]
rs11610298	0.87[EUR][1000 genomes]
rs11614297	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11614450	0.87[EUR][1000 genomes]
rs11615364	0.87[EUR][1000 genomes]
rs11615397	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs12318978	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12580262	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs34047542	0.84[EUR][1000 genomes]
rs34392018	1.00[EUR][1000 genomes]
rs35827006	0.88[EUR][1000 genomes]
rs55929927	0.88[EUR][1000 genomes]
rs58057028	0.88[EUR][1000 genomes]
rs58588078	0.88[EUR][1000 genomes]
rs58934582	0.88[EUR][1000 genomes]
rs60139771	0.88[EUR][1000 genomes]
rs61909641	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61909644	0.88[EUR][1000 genomes]
rs61909645	0.88[EUR][1000 genomes]
rs61909646	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61909647	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61909651	0.88[EUR][1000 genomes]
rs61909652	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61909653	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61909657	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61909658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61909659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61909960	0.96[EUR][1000 genomes]
rs61909961	0.96[EUR][1000 genomes]
rs61909962	0.87[EUR][1000 genomes]
rs61909963	0.96[EUR][1000 genomes]
rs61909964	0.87[EUR][1000 genomes]
rs61911360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61911366	0.96[EUR][1000 genomes]
rs61911367	0.96[EUR][1000 genomes]
rs61911368	0.96[EUR][1000 genomes]
rs61911369	0.96[EUR][1000 genomes]
rs61911370	0.96[EUR][1000 genomes]
rs7137549	0.87[EUR][1000 genomes]
rs74060058	0.88[EUR][1000 genomes]
rs7971891	1.00[CEU][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4723600-4728200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:4723600-4735600	Weak transcription	HMEC	breast
3	chr12:4723800-4728000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:4723800-4728600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:4723800-4732000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:4724200-4735600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:4724800-4729000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:4725200-4728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:4725200-4728400	Weak transcription	Esophagus	oesophagus
11	chr12:4725200-4728400	Weak transcription	A549	lung
12	chr12:4725200-4728800	Weak transcription	Gastric	stomach
13	chr12:4725400-4727800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:4725400-4728000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:4725400-4728200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:4725400-4728600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr12:4725400-4728800	Weak transcription	Primary T cells from cord blood	blood
18	chr12:4725400-4736800	Weak transcription	Pancreas	Pancrea
19	chr12:4725400-4737000	Weak transcription	Brain Anterior Caudate	brain
20	chr12:4725400-4737000	Weak transcription	Left Ventricle	heart
21	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
22	chr12:4725600-4735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:4725600-4738400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:4725800-4729200	Weak transcription	Primary B cells from cord blood	blood
25	chr12:4727600-4728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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