Variant report

Variant	rs6469937
Chromosome Location	chr8:121610438-121610439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121608620..121610687-chr8:121614325..121616979,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10955977	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11774895	0.91[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782035	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11782950	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11992085	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11993763	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13248824	0.87[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap]
rs13249701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13251609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13254959	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13258818	0.80[CHB][hapmap];0.89[CHD][hapmap]
rs13261532	0.93[ASN][1000 genomes]
rs13263202	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13265960	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13271651	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13273020	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13277867	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13278351	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35721503	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4314683	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4387016	0.91[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4395927	0.83[CHD][hapmap];0.87[MEX][hapmap]
rs4455882	0.83[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs4515597	0.83[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562365	0.83[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4582605	0.91[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4644306	0.81[TSI][hapmap]
rs55885222	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6984991	0.83[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6988919	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7827513	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7839488	0.87[MEX][hapmap]
rs7846519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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

Variant related diseases (count:1)

Disease	PMID	Source
Myopia (severe)	23933737	GWAS catalog

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121587200-121623000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:121587800-121611000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:121587800-121640600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:121588200-121642400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:121588600-121636600	Weak transcription	Primary B cells from cord blood	blood
6	chr8:121597800-121613200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:121598600-121611000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr8:121599000-121615800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:121601200-121623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:121602000-121627600	Weak transcription	Aorta	Aorta
11	chr8:121603200-121626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:121605800-121610600	Weak transcription	Pancreas	Pancrea
13	chr8:121605800-121644400	Weak transcription	Gastric	stomach
14	chr8:121606200-121626200	Weak transcription	HSMMtube	muscle
15	chr8:121606400-121612800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:121606800-121610600	Strong transcription	Primary T cells from cord blood	blood
17	chr8:121607400-121623200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:121607600-121643000	Weak transcription	Fetal Intestine Large	intestine
19	chr8:121608400-121618600	Strong transcription	HepG2	liver
20	chr8:121608600-121613600	Strong transcription	Liver	Liver
21	chr8:121608800-121611600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:121608800-121613400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr8:121609200-121612800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121609200-121614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:121609400-121611400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:121609600-121610600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:121609600-121610800	Enhancers	HSMM	muscle
28	chr8:121609600-121611000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:121609600-121611400	Enhancers	Osteobl	bone
30	chr8:121609600-121611600	Enhancers	NHLF	lung
31	chr8:121609600-121641000	Weak transcription	Lung	lung
32	chr8:121609800-121611000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:121609800-121611400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:121609800-121613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:121609800-121629000	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:121609800-121629000	Weak transcription	Fetal Stomach	stomach
37	chr8:121610000-121610800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:121610200-121610600	Enhancers	HMEC	breast
39	chr8:121610200-121611000	Enhancers	NH-A	brain
40	chr8:121610200-121611400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:121610200-121613000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:121610200-121623000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:121610400-121610800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:121610400-121611000	Flanking Active TSS	NHDF-Ad	bronchial
45	chr8:121610400-121627400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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