Variant report

Variant	rs7015505
Chromosome Location	chr8:38901877-38901878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10089487	0.84[CHD][hapmap]
rs10092021	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10093975	0.81[ASW][hapmap];0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.91[YRI][hapmap]
rs10113077	0.83[CHB][hapmap]
rs10441608	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10809000	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[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]
rs10809001	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11784624	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11985898	0.87[TSI][hapmap]
rs12156418	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28434452	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28563781	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28564878	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28579045	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28690874	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28868044	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4075849	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4269506	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4495395	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs4517088	1.00[ASW][hapmap];0.85[CEU][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4615534	1.00[ASW][hapmap];0.85[CEU][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.80[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733904	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733971	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55797573	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56018450	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59118660	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59814883	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6474517	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6474525	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67200247	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6991383	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]
rs6991968	0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs6997721	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001985	0.81[JPT][hapmap];0.86[YRI][hapmap]
rs7006535	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013358	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7464810	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7818363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[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]
rs7821437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823125	0.87[ASW][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap]
rs7830975	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7831735	0.89[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs7832284	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7832578	0.83[CHB][hapmap];0.87[CHD][hapmap];0.83[MEX][hapmap]
rs7834967	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7835604	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7836422	0.87[ASW][hapmap];0.89[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap];0.86[YRI][hapmap]
rs7838874	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7840044	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]
rs7840270	0.81[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap]
rs7844927	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9650347	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3445313	chr8:38886844-38936643	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv3325011	chr8:38899844-38936643	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7015505	TM2D2	cis	cerebellum	SCAN
rs7015505	ADAM32	cis	Artery Tibial	GTEx
rs7015505	ADAM32	cis	Nerve Tibial	GTEx
rs7015505	TM2D2	cis	parietal	SCAN
rs7015505	ADAM32	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38869600-38902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:38882000-38913600	Weak transcription	Fetal Kidney	kidney
3	chr8:38883000-38913000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:38885200-38902800	Weak transcription	Psoas Muscle	Psoas
5	chr8:38885400-38904400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:38885600-38903600	Weak transcription	Fetal Brain Female	brain
7	chr8:38885800-38911200	Weak transcription	Ovary	ovary
8	chr8:38886400-38904400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:38887400-38911200	Weak transcription	Aorta	Aorta
10	chr8:38888200-38904400	Weak transcription	GM12878-XiMat	blood
11	chr8:38888400-38905400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:38890000-38904400	Weak transcription	Gastric	stomach
13	chr8:38890200-38904400	Weak transcription	Esophagus	oesophagus
14	chr8:38890200-38911200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:38890200-38914400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:38890400-38903400	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:38890400-38904200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:38890400-38904200	Weak transcription	Fetal Intestine Small	intestine
19	chr8:38890400-38904200	Weak transcription	Lung	lung
20	chr8:38890400-38919800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:38895600-38902000	Weak transcription	Right Ventricle	heart
22	chr8:38895600-38911200	Weak transcription	Fetal Stomach	stomach
23	chr8:38896000-38918400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:38896000-38925000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:38896200-38907600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:38896200-38911200	Weak transcription	Placenta	Placenta
27	chr8:38896200-38911200	Weak transcription	Left Ventricle	heart
28	chr8:38896200-38916000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:38896400-38916400	Weak transcription	K562	blood
30	chr8:38896600-38905200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr8:38896600-38912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:38896800-38904000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:38896800-38911200	Weak transcription	Adipose Nuclei	Adipose
34	chr8:38897200-38907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:38897200-38907800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:38897200-38911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:38897400-38963400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr8:38897600-38902800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:38897600-38903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:38897600-38918600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:38899800-38902200	Strong transcription	HepG2	liver
42	chr8:38899800-38911400	Weak transcription	Brain Angular Gyrus	brain
43	chr8:38899800-38916600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr8:38900000-38903400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:38900000-38903400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:38900000-38905800	Weak transcription	Liver	Liver
47	chr8:38900000-38911200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:38900000-38911400	Weak transcription	Brain Substantia Nigra	brain
49	chr8:38900200-38904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:38900200-38905200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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