Variant report

Variant	rs72666612
Chromosome Location	chr8:99466428-99466429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10282835	1.00[ASN][1000 genomes]
rs11785588	1.00[ASN][1000 genomes]
rs12386830	1.00[ASN][1000 genomes]
rs13277523	1.00[ASN][1000 genomes]
rs16896995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621642	1.00[ASN][1000 genomes]
rs34018826	1.00[ASN][1000 genomes]
rs4554439	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4574821	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4615538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807423	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947965	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185259	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246659	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56290864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356780	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666642	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666643	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666649	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666652	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666655	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666661	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666665	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666666	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666676	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666678	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666684	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666685	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666688	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666689	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73699303	1.00[ASN][1000 genomes]
rs7835203	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839115	1.00[ASN][1000 genomes]
rs7842869	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99441400-99472600	Weak transcription	Pancreas	Pancrea
2	chr8:99458200-99467600	Weak transcription	Liver	Liver
3	chr8:99461800-99525000	Weak transcription	Psoas Muscle	Psoas
4	chr8:99463000-99468000	Enhancers	Fetal Heart	heart
5	chr8:99464000-99471800	Weak transcription	Lung	lung
6	chr8:99465000-99468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:99465000-99478600	Weak transcription	HUVEC	blood vessel
8	chr8:99465200-99468400	Weak transcription	Spleen	Spleen
9	chr8:99465200-99478800	Weak transcription	A549	lung
10	chr8:99465400-99466600	Enhancers	GM12878-XiMat	blood
11	chr8:99465400-99471600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:99465600-99469600	Enhancers	NHLF	lung
13	chr8:99465600-99470600	Enhancers	NHDF-Ad	bronchial
14	chr8:99465600-99471400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:99465600-99471800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:99466000-99466600	Enhancers	K562	blood
17	chr8:99466000-99466800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:99466000-99467000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:99466000-99467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:99466000-99467200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:99466000-99468600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:99466200-99467000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:99466200-99467000	Enhancers	HMEC	breast
24	chr8:99466200-99467200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:99466200-99470000	Enhancers	Osteobl	bone
26	chr8:99466200-99471400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:99466400-99466600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:99466400-99466600	Enhancers	HSMMtube	muscle
29	chr8:99466400-99466800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:99466400-99466800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:99466400-99466800	ZNF genes & repeats	Gastric	stomach
32	chr8:99466400-99466800	Enhancers	Ovary	ovary
33	chr8:99466400-99466800	Enhancers	Right Ventricle	heart
34	chr8:99466400-99466800	Enhancers	Small Intestine	intestine
35	chr8:99466400-99466800	Enhancers	HSMM	muscle
36	chr8:99466400-99467200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:99466400-99467200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:99466400-99467200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:99466400-99467200	Enhancers	NH-A	brain
40	chr8:99466400-99467200	Enhancers	NHEK	skin
41	chr8:99466400-99469600	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:99466400-99470800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:99466400-99473600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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