Variant report

Variant	rs7840044
Chromosome Location	chr8:38871325-38871326
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	chr8:38862437..38863950-chr8:38869251..38872110,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10089487	0.81[CHD][hapmap];0.83[MEX][hapmap]
rs10091297	0.84[ASN][1000 genomes]
rs10092021	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10093975	0.81[ASW][hapmap];0.82[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.83[MEX][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10095616	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10113077	0.83[CHB][hapmap]
rs10441608	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10809000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs10809001	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11784624	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11985898	0.80[JPT][hapmap];0.85[TSI][hapmap]
rs12156418	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28372047	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28434452	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28523000	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28563781	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28564878	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28579045	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28690874	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28868044	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4075849	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4269506	1.00[ASW][hapmap];0.82[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4495395	0.83[CHB][hapmap]
rs4517088	1.00[ASW][hapmap];0.82[CEU][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4615534	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4733904	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4733962	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733971	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55797573	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56018450	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59118660	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59814883	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6474517	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6474525	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs66513029	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs67200247	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6991383	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]
rs6991968	0.82[CEU][hapmap];0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs6997721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001985	0.85[JPT][hapmap];0.91[YRI][hapmap]
rs7006414	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7006535	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013358	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7015505	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7464810	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7814264	0.85[ASN][1000 genomes]
rs7818363	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7821437	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7823125	0.87[ASW][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7830975	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7831735	0.89[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs7832284	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7832578	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs7832975	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7833430	0.83[ASN][1000 genomes]
rs7834967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835604	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7836422	0.87[ASW][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7838874	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs7840270	0.82[CEU][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs7842543	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7842732	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7844927	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9650347	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7840044	TM2D2	cis	cerebellum	SCAN
rs7840044	ADAM32	cis	Adipose Subcutaneous	GTEx
rs7840044	ADAM32	cis	Artery Tibial	GTEx
rs7840044	TM2D2	cis	parietal	SCAN
rs7840044	ADAM32	cis	Nerve Tibial	GTEx
rs7840044	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38855800-38881600	Weak transcription	Fetal Kidney	kidney
2	chr8:38856600-38889600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:38856800-38874400	Weak transcription	Brain Anterior Caudate	brain
4	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
5	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
6	chr8:38857400-38872400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:38857600-38872200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:38858000-38874200	Weak transcription	Fetal Brain Male	brain
9	chr8:38858000-38874400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:38858200-38875200	Weak transcription	Esophagus	oesophagus
11	chr8:38860600-38875000	Weak transcription	Gastric	stomach
12	chr8:38862600-38884400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:38862800-38873200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:38862800-38878200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:38863400-38883200	Weak transcription	Brain Germinal Matrix	brain
16	chr8:38863600-38881000	Weak transcription	Small Intestine	intestine
17	chr8:38865000-38871400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:38865000-38871800	Strong transcription	Osteobl	bone
19	chr8:38865000-38872000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:38865000-38872000	Weak transcription	Stomach Mucosa	stomach
21	chr8:38865000-38873000	Weak transcription	Fetal Heart	heart
22	chr8:38865000-38874400	Weak transcription	Left Ventricle	heart
23	chr8:38865000-38880600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:38865000-38881400	Weak transcription	Spleen	Spleen
25	chr8:38865000-38887200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:38865000-38889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:38865200-38872400	Strong transcription	NHDF-Ad	bronchial
28	chr8:38865200-38874200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:38865200-38877800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:38865200-38887400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:38865400-38872000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:38865400-38872000	Strong transcription	NH-A	brain
33	chr8:38865400-38874400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:38865400-38877200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:38865400-38886000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:38865400-38887800	Strong transcription	HSMM	muscle
37	chr8:38865400-38888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:38865600-38872000	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:38865600-38888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:38865600-38889000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:38865800-38872200	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:38866000-38871400	Strong transcription	NHLF	lung
43	chr8:38866000-38888400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:38866200-38871400	Strong transcription	HUVEC	blood vessel
45	chr8:38867000-38880400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:38867200-38874200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr8:38867200-38875200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:38867400-38871600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:38868000-38872200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:38868200-38874200	Weak transcription	K562	blood

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