Variant report

Variant	rs4242315
Chromosome Location	chr8:121605472-121605473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10955976	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4297067	0.91[CEU][hapmap];0.91[MEX][hapmap]
rs4330729	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4451342	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap]
rs4480161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870734	0.91[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871070	0.91[CEU][hapmap]
rs4871075	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62526664	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67339289	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6987986	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[ASN][1000 genomes]
rs6997783	0.91[CEU][hapmap];0.82[CHB][hapmap];0.91[MEX][hapmap]
rs7009902	0.95[CHB][hapmap];0.88[ASN][1000 genomes]
rs7015089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815260	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823782	0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs7834651	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843835	0.95[MEX][hapmap];0.81[AMR][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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121609200	Weak transcription	Fetal Stomach	stomach
3	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr8:121588400-121610000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:121596800-121606200	Enhancers	NHLF	lung
9	chr8:121596800-121606400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:121599600-121606200	Enhancers	NHDF-Ad	bronchial
14	chr8:121600600-121609200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:121600800-121605600	Strong transcription	HepG2	liver
16	chr8:121601200-121606400	Enhancers	Fetal Muscle Leg	muscle
17	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
19	chr8:121602400-121605600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:121602400-121609200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121602800-121606800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:121602800-121609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:121603000-121605600	Weak transcription	Fetal Lung	lung
24	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:121603600-121606000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:121604000-121606800	Weak transcription	Primary T cells from cord blood	blood
27	chr8:121604200-121608800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr8:121604800-121605600	Enhancers	NH-A	brain
29	chr8:121604800-121605800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:121604800-121605800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:121604800-121605800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:121604800-121605800	Strong transcription	Liver	Liver
33	chr8:121604800-121605800	Enhancers	Ovary	ovary
34	chr8:121604800-121605800	Enhancers	Pancreas	Pancrea
35	chr8:121604800-121605800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:121604800-121606000	Enhancers	Fetal Kidney	kidney
37	chr8:121604800-121606200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:121604800-121606200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:121604800-121606200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:121605000-121605600	Enhancers	Lung	lung
41	chr8:121605000-121605800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:121605000-121605800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:121605000-121605800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:121605000-121605800	Flanking Active TSS	HSMM	muscle
45	chr8:121605000-121606000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:121605000-121606000	Flanking Active TSS	HSMMtube	muscle
47	chr8:121605000-121606200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:121605000-121606200	Enhancers	Colon Smooth Muscle	Colon
49	chr8:121605000-121606400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr8:121605200-121605800	Flanking Active TSS	Osteobl	bone

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