Variant report

Variant	rs4871076
Chromosome Location	chr8:121627839-121627840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121621876..121624440-chr8:121626414..121628538,2	MCF-7	breast:
2	chr8:121456024..121458883-chr8:121625908..121628453,2	K562	blood:

Variant related genes	Relation type
ENSG00000172172	Chromatin interaction
ENSG00000172167	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10091246	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11777455	0.85[ASN][1000 genomes]
rs12155872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252011	0.86[ASN][1000 genomes]
rs4242316	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986444	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987986	0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs6988232	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6990705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009902	0.95[MEX][hapmap];0.86[AMR][1000 genomes]
rs7814339	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823782	0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs7828804	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7839237	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843835	0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv612113	chr8:121616345-121635396	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4871076	MTBP	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
4	chr8:121605800-121644400	Weak transcription	Gastric	stomach
5	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
6	chr8:121609600-121641000	Weak transcription	Lung	lung
7	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
9	chr8:121610800-121629800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
11	chr8:121613400-121637200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:121616000-121637200	Weak transcription	HSMM	muscle
13	chr8:121616600-121639000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:121618000-121629000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:121618200-121634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121618400-121637200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:121619000-121633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:121621600-121630200	Strong transcription	Liver	Liver
19	chr8:121621800-121629000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:121621800-121644400	Weak transcription	Spleen	Spleen
21	chr8:121623000-121635000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:121623400-121637400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:121623400-121647600	Weak transcription	Fetal Intestine Small	intestine
24	chr8:121624400-121637200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:121625000-121642200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:121625000-121643600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:121625400-121636600	Strong transcription	HepG2	liver
28	chr8:121625600-121645400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr8:121626200-121630200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:121626200-121630800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:121626400-121628800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121626600-121629200	Weak transcription	Primary T cells from cord blood	blood
33	chr8:121627000-121640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:121627400-121628400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:121627400-121630000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:121627600-121628000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:121627600-121628200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:121627600-121628400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr8:121627600-121628800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:121627600-121629000	Weak transcription	NHLF	lung
41	chr8:121627600-121635000	Weak transcription	Psoas Muscle	Psoas
42	chr8:121627600-121637200	Weak transcription	HSMMtube	muscle
43	chr8:121627800-121628200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:121627800-121631800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:121627800-121635000	Weak transcription	Right Atrium	heart
46	chr8:121627800-121635200	Weak transcription	Aorta	Aorta
47	chr8:121627800-121637400	Weak transcription	H9 Cell Line	embryonic stem cell

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