Variant report

Variant	rs7832578
Chromosome Location	chr8:38877415-38877416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:38877320-38877470	GM12873	blood:	n/a	chr8:38877385-38877403 chr8:38877380-38877401
2	POLR2A	chr8:38877399-38877513	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000207199	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10086693	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10089487	0.96[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10105311	0.85[ASN][1000 genomes]
rs10106085	0.95[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10441608	0.80[CHB][hapmap]
rs10809000	0.83[CHB][hapmap]
rs10958813	0.80[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11777376	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11784624	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs11787126	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12056655	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12541231	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs12548006	0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs12548948	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs12549547	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs13256952	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap]
rs13268394	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13274567	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs13282047	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28641150	0.82[ASN][1000 genomes]
rs34138150	0.83[EUR][1000 genomes]
rs35534138	0.83[EUR][1000 genomes]
rs4075849	0.83[CHB][hapmap]
rs4128871	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4129095	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs4236755	0.86[MEX][hapmap];0.81[TSI][hapmap]
rs4308699	0.82[MEX][hapmap];0.81[TSI][hapmap]
rs4495395	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4543512	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs4601278	0.86[MEX][hapmap]
rs4615534	0.81[CHD][hapmap]
rs4733894	0.81[ASN][1000 genomes]
rs4733897	0.87[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs4733901	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733905	0.86[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap]
rs4733959	0.82[JPT][hapmap]
rs4733964	0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs4733970	0.83[EUR][1000 genomes]
rs4733980	0.83[TSI][hapmap]
rs6474515	0.82[ASN][1000 genomes]
rs6474516	0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs6474525	0.83[CHB][hapmap]
rs6991383	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs7000059	0.81[ASN][1000 genomes]
rs7010131	0.82[ASN][1000 genomes]
rs7015505	0.83[CHB][hapmap];0.87[CHD][hapmap];0.83[MEX][hapmap]
rs7818363	0.83[CHB][hapmap]
rs7821237	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7821437	0.82[CHB][hapmap]
rs7832284	0.82[CHB][hapmap]
rs7834967	0.83[CHB][hapmap]
rs7838874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7840044	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs9643904	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs9643906	0.94[JPT][hapmap]
rs9650347	0.82[CHB][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7832578	TM2D2	cis	Muscle Skeletal	GTEx
rs7832578	PLEKHA2	cis	lesional skin	skin_eQTL

Chromatin state (count:112 , 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	chr8:38856800-38889600	Weak transcription	Colonic Mucosa	Colon
4	chr8:38857200-38881400	Weak transcription	Fetal Brain Female	brain
5	chr8:38862600-38884400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:38862800-38878200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:38863400-38883200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:38863600-38881000	Weak transcription	Small Intestine	intestine
9	chr8:38865000-38880600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:38865000-38881400	Weak transcription	Spleen	Spleen
11	chr8:38865000-38887200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:38865000-38889600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:38865200-38877800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:38865200-38887400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:38865400-38886000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:38865400-38887800	Strong transcription	HSMM	muscle
17	chr8:38865400-38888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:38865600-38888200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:38865600-38889000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr8:38866000-38888400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:38867000-38880400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:38868200-38881200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:38869000-38877600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:38869600-38902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:38869800-38880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:38869800-38880200	Weak transcription	Lung	lung
27	chr8:38869800-38881400	Weak transcription	Right Ventricle	heart
28	chr8:38869800-38883200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:38869800-38885200	Weak transcription	Aorta	Aorta
30	chr8:38869800-38888400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:38870000-38879200	Weak transcription	Liver	Liver
32	chr8:38870000-38881200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:38870000-38881800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:38870000-38886400	Weak transcription	Pancreas	Pancrea
35	chr8:38871000-38877600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:38871600-38877600	Strong transcription	Primary hematopoietic stem cells	blood
37	chr8:38872000-38886200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:38872000-38890400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:38872200-38877800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:38872400-38881400	Strong transcription	HMEC	breast
41	chr8:38872400-38888200	Strong transcription	Fetal Intestine Large	intestine
42	chr8:38872600-38889600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:38872600-38889800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:38872800-38888000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:38873200-38883800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:38873400-38883800	Strong transcription	NHDF-Ad	bronchial
47	chr8:38873600-38879200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:38873600-38881000	Weak transcription	Ovary	ovary
49	chr8:38874200-38877800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:38874200-38886400	Strong transcription	Fetal Muscle Trunk	muscle

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