Variant report

Variant	rs6991383
Chromosome Location	chr8:38882317-38882318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10089487	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs10092021	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10093975	0.82[ASW][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs10113077	0.83[CHB][hapmap]
rs10441608	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10809000	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]
rs10809001	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11784624	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11985898	0.81[JPT][hapmap];0.85[TSI][hapmap]
rs12156418	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28434452	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28563781	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28564878	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28579045	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28690874	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28868044	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4075849	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4269506	1.00[ASW][hapmap];0.82[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4495395	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs4517088	1.00[ASW][hapmap];0.82[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4615534	1.00[ASW][hapmap];0.82[CEU][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.91[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4733904	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4733971	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55797573	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56018450	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59118660	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59814883	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6474517	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6474525	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67200247	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6991968	0.83[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.82[ASN][1000 genomes]
rs6997721	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7001985	0.85[JPT][hapmap];0.86[YRI][hapmap]
rs7006414	0.80[AMR][1000 genomes]
rs7006535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013358	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7015505	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7464810	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7818363	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821437	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7823125	0.87[ASW][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs7830975	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7831735	0.89[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs7832284	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7832578	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs7834967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7835604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836422	0.87[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.86[YRI][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7838874	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7840044	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840270	0.81[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs7844927	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9650347	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6991383	TM2D2	cis	cerebellum	SCAN
rs6991383	ADAM32	cis	Nerve Tibial	GTEx
rs6991383	ADAM32	cis	Adipose Subcutaneous	GTEx
rs6991383	ADAM32	cis	Artery Tibial	GTEx
rs6991383	TM2D2	cis	parietal	SCAN
rs6991383	HTRA4	cis	multi-tissue	Pritchard

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
3	chr8:38862600-38884400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:38863400-38883200	Weak transcription	Brain Germinal Matrix	brain
5	chr8:38865000-38887200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:38865000-38889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:38865200-38887400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:38865400-38886000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:38865400-38887800	Strong transcription	HSMM	muscle
10	chr8:38865400-38888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:38865600-38888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:38865600-38889000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:38866000-38888400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:38869600-38902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:38869800-38883200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:38869800-38885200	Weak transcription	Aorta	Aorta
17	chr8:38869800-38888400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:38870000-38886400	Weak transcription	Pancreas	Pancrea
19	chr8:38872000-38886200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:38872000-38890400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:38872400-38888200	Strong transcription	Fetal Intestine Large	intestine
22	chr8:38872600-38889600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:38872600-38889800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:38872800-38888000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:38873200-38883800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:38873400-38883800	Strong transcription	NHDF-Ad	bronchial
27	chr8:38874200-38886400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr8:38874400-38888800	Strong transcription	Hela-S3	cervix
29	chr8:38875000-38883400	Strong transcription	NH-A	brain
30	chr8:38875000-38888400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:38875200-38885600	Weak transcription	Fetal Heart	heart
32	chr8:38875200-38888800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr8:38875400-38883800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:38875400-38884000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:38875400-38884800	Weak transcription	Psoas Muscle	Psoas
36	chr8:38875400-38886200	Weak transcription	Right Atrium	heart
37	chr8:38875400-38886600	Weak transcription	Gastric	stomach
38	chr8:38875400-38886800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:38875400-38889400	Weak transcription	Esophagus	oesophagus
40	chr8:38875400-38890200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:38875600-38882800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:38875600-38883200	Strong transcription	Osteobl	bone
43	chr8:38875600-38883400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr8:38875800-38883600	Weak transcription	Fetal Brain Male	brain
45	chr8:38875800-38895400	Weak transcription	Brain Angular Gyrus	brain
46	chr8:38876000-38884000	Strong transcription	NHLF	lung
47	chr8:38876400-38888000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:38876600-38888000	Strong transcription	Placenta	Placenta
49	chr8:38877000-38885600	Weak transcription	Stomach Mucosa	stomach
50	chr8:38877400-38885800	Strong transcription	Fetal Lung	lung

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