Variant report

Variant	rs7823782
Chromosome Location	chr8:121597725-121597726
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121590814..121592983-chr8:121597409..121599196,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10091246	0.81[ASN][1000 genomes]
rs11777455	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12155872	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs13252011	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4242315	0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs4242316	0.89[ASN][1000 genomes]
rs4297067	0.86[MEX][hapmap]
rs4451342	0.86[MEX][hapmap]
rs4480161	0.82[AMR][1000 genomes]
rs4870734	0.82[MEX][hapmap]
rs4870737	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871076	0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871077	0.87[ASN][1000 genomes]
rs4871078	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs67339289	0.85[AMR][1000 genomes]
rs6981480	0.81[AMR][1000 genomes]
rs6986440	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6986444	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6988232	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6990705	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6997783	0.86[MEX][hapmap]
rs7007838	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7015089	0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs7814339	0.87[ASN][1000 genomes]
rs7828804	0.85[ASN][1000 genomes]
rs7834651	0.84[AMR][1000 genomes]
rs7839237	0.87[ASN][1000 genomes]
rs7839984	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7842050	0.84[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs7843835	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1021757	chr8:121501179-121620441	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv539740	chr8:121501179-121620441	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7823782	MTBP	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121583200-121598200	Weak transcription	Spleen	Spleen
2	chr8:121585000-121601600	Weak transcription	Fetal Lung	lung
3	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:121587400-121600400	Weak transcription	Fetal Kidney	kidney
5	chr8:121587600-121600000	Weak transcription	Aorta	Aorta
6	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
7	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
12	chr8:121589600-121598000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:121589600-121602200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:121592600-121600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:121593000-121598000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:121593200-121599800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:121594200-121605400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:121596400-121597800	Enhancers	Pancreas	Pancrea
19	chr8:121596800-121597800	Enhancers	Psoas Muscle	Psoas
20	chr8:121596800-121598400	Enhancers	HUVEC	blood vessel
21	chr8:121596800-121598800	Enhancers	Fetal Muscle Leg	muscle
22	chr8:121596800-121599000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:121596800-121599000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:121596800-121599000	Enhancers	Hela-S3	cervix
25	chr8:121596800-121599200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:121596800-121599200	Enhancers	NHDF-Ad	bronchial
27	chr8:121596800-121602400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:121596800-121604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:121596800-121606200	Enhancers	NHLF	lung
30	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:121597000-121597800	Enhancers	Lung	lung
32	chr8:121597000-121597800	Enhancers	Right Atrium	heart
33	chr8:121597000-121598400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:121597000-121598400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:121597000-121598400	Enhancers	Stomach Smooth Muscle	stomach
36	chr8:121597000-121598800	Enhancers	Adipose Nuclei	Adipose
37	chr8:121597000-121599000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:121597000-121605000	Enhancers	HSMMtube	muscle
39	chr8:121597200-121598200	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:121597200-121598600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:121597200-121598800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr8:121597200-121599000	Enhancers	Liver	Liver
43	chr8:121597200-121600400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:121597400-121597800	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:121597400-121598200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:121597400-121598200	Enhancers	NH-A	brain
47	chr8:121597400-121598400	Enhancers	Osteobl	bone
48	chr8:121597400-121598800	Enhancers	HSMM	muscle
49	chr8:121597600-121598000	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:121597600-121598000	Enhancers	Skeletal Muscle Male	skeletal muscle

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