Variant report

Variant	rs4871081
Chromosome Location	chr8:121643429-121643430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10095267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10108624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11780390	0.82[MEX][hapmap]
rs28582528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128596	1.00[MEX][hapmap];0.84[AMR][1000 genomes]
rs4278188	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4313196	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324958	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4364672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4490883	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4584179	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4604483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7840986	0.86[AMR][1000 genomes]
rs7841516	0.94[EUR][1000 genomes]
rs7841738	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4871081	HAS2	cis	parietal	SCAN
rs4871081	MTBP	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121605800-121644400	Weak transcription	Gastric	stomach
2	chr8:121613200-121668000	Weak transcription	Pancreas	Pancrea
3	chr8:121621800-121644400	Weak transcription	Spleen	Spleen
4	chr8:121623400-121647600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:121625000-121643600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:121625600-121645400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:121628600-121673200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:121629200-121643600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr8:121629400-121645200	Weak transcription	Fetal Stomach	stomach
10	chr8:121633400-121645200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:121633600-121654000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:121635400-121644600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:121635800-121643800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:121637600-121644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:121637800-121644800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:121638400-121652400	Weak transcription	NHDF-Ad	bronchial
17	chr8:121638400-121653600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:121639000-121645600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:121639200-121645000	Strong transcription	Liver	Liver
20	chr8:121639200-121645400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:121639400-121649400	Weak transcription	Psoas Muscle	Psoas
22	chr8:121639800-121645600	Strong transcription	Primary T cells from cord blood	blood
23	chr8:121640000-121645400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121640400-121647000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:121640600-121643600	Weak transcription	Osteobl	bone
26	chr8:121640600-121644000	Weak transcription	HSMM	muscle
27	chr8:121640600-121645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:121640600-121645000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:121640600-121646000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr8:121640600-121646600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:121640600-121648000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:121640600-121654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:121641000-121645000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:121641000-121646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:121641200-121643800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:121641200-121645200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:121641400-121647000	Weak transcription	Aorta	Aorta
38	chr8:121641600-121643600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:121642000-121645600	Strong transcription	HepG2	liver
40	chr8:121642200-121645000	Strong transcription	Lung	lung
41	chr8:121642200-121645200	Strong transcription	Primary B cells from cord blood	blood
42	chr8:121642200-121645200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr8:121642200-121645800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr8:121642400-121645000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:121642400-121645200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr8:121642600-121644200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:121642600-121645000	Strong transcription	HSMMtube	muscle
48	chr8:121642600-121645200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:121642800-121644800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:121643000-121644400	Weak transcription	NHLF	lung

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