Variant report

Variant	rs7006414
Chromosome Location	chr8:38853269-38853270
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	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
2	POLR2A	chr8:38853250-38854843	HUVEC	blood vessel:	n/a	n/a
3	TAF1	chr8:38853256-38854852	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:38853116-38855408	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr8:38852478-38856247	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr8:38853145-38855977	IMR90	lung:	n/a	n/a
7	POLR2A	chr8:38853164-38854811	GM12878	blood:	n/a	n/a
8	MAFK	chr8:38852956-38854578	Hela-S3	cervix:	n/a	chr8:38854368-38854385
9	RFX5	chr8:38853134-38855673	SK-N-SH	brain:	n/a	n/a
10	REST	chr8:38852817-38855444	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr8:38643651..38646089-chr8:38852696..38855577,2	MCF-7	breast:

Variant related genes	Relation type
ADAM9	TF binding region
TM2D2	TF binding region
ENSG00000147526	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10091297	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10093975	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10095616	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10809000	0.80[AMR][1000 genomes]
rs12676405	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28372047	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28523000	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28579045	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28690874	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4489297	0.81[ASN][1000 genomes]
rs4733962	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56018450	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6474514	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6474517	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs66513029	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991383	0.80[AMR][1000 genomes]
rs6991968	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997721	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7006535	0.80[AMR][1000 genomes]
rs7814264	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7823125	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7826010	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7830323	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7831735	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832975	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833430	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7834967	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7835604	0.80[AMR][1000 genomes]
rs7836422	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840044	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7840270	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842543	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842732	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7844927	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9987222	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7006414	ADAM32	cis	Nerve Tibial	GTEx
rs7006414	PLEKHA2	Cis_1M	lymphoblastoid	RTeQTL
rs7006414	ADAM32	cis	Adipose Subcutaneous	GTEx
rs7006414	ADAM32	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38851800-38853400	Flanking Active TSS	HUVEC	blood vessel
2	chr8:38852200-38853400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr8:38852200-38853400	Flanking Active TSS	Brain Germinal Matrix	brain
4	chr8:38852200-38853400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:38852200-38853600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:38852200-38853800	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr8:38852400-38853400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr8:38852400-38853400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:38852400-38853400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr8:38852400-38853400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr8:38852400-38853400	Flanking Active TSS	Liver	Liver
12	chr8:38852400-38853400	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr8:38852400-38853400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr8:38852400-38853400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:38852400-38853600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr8:38852400-38853600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:38852400-38853600	Flanking Active TSS	Fetal Brain Female	brain
18	chr8:38852400-38853600	Active TSS	Right Atrium	heart
19	chr8:38852600-38853400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:38852600-38853400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr8:38852600-38853600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:38852600-38853600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr8:38852600-38853600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:38852600-38853600	Flanking Active TSS	Dnd41	blood
25	chr8:38852600-38854000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr8:38852600-38854800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:38852600-38856000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
30	chr8:38852600-38856600	Active TSS	Lung	lung
31	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:38852800-38853400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:38852800-38853400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr8:38852800-38853400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr8:38852800-38853400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr8:38852800-38853600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr8:38852800-38853800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:38852800-38854000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
48	chr8:38852800-38857600	Active TSS	NH-A	brain
49	chr8:38852800-38857800	Active TSS	A549	lung
50	chr8:38852800-38857800	Active TSS	NHLF	lung

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