Variant report

Variant	rs7295
Chromosome Location	chr8:38831059-38831060
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	POLR2A	chr8:38830683-38832847	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:38831051-38831376	GM12878	blood:	n/a	n/a
3	NFATC1	chr8:38831033-38831847	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:38830878-38832523	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
HTRA4	TF binding region
ENSG00000253645	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10093975	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs10105311	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10958812	0.88[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes]
rs28641150	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4301415	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4404880	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4733893	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4733894	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733897	0.81[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4733958	0.90[EUR][1000 genomes]
rs4733959	0.88[JPT][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733964	0.84[CEU][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6474515	0.82[ASN][1000 genomes]
rs6474516	0.85[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6981759	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6985572	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991968	0.81[CHB][hapmap]
rs6996274	0.98[ASN][1000 genomes]
rs6998440	0.84[MKK][hapmap]
rs7000059	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7001985	0.86[CHB][hapmap]
rs7010131	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7823125	0.87[CHB][hapmap];0.87[CHD][hapmap]
rs7831735	0.84[CHD][hapmap]
rs7836422	0.83[CHD][hapmap]
rs7840270	0.81[CHD][hapmap]
rs9692838	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9987126	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9987222	0.89[CHD][hapmap]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7295	ADAM32	cis	parietal	SCAN
rs7295	PLEKHA2	cis	lymphoblastoid	seeQTL
rs7295	DDHD2	cis	cerebellum	SCAN
rs7295	TM2D2	cis	parietal	SCAN
rs7295	ADAM32	cis	cerebellum	SCAN
rs7295	TM2D2	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38797000-38831200	Weak transcription	Psoas Muscle	Psoas
2	chr8:38816800-38831400	Weak transcription	Gastric	stomach
3	chr8:38817600-38831600	Weak transcription	NHEK	skin
4	chr8:38817800-38835200	Weak transcription	HepG2	liver
5	chr8:38819400-38831200	Weak transcription	NH-A	brain
6	chr8:38824000-38846400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:38824200-38831400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:38824200-38831800	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr8:38824200-38834000	Weak transcription	A549	lung
10	chr8:38824200-38847800	Weak transcription	Brain Substantia Nigra	brain
11	chr8:38824200-38848400	Weak transcription	Brain Angular Gyrus	brain
12	chr8:38824200-38848800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:38825000-38831400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:38825000-38833200	Strong transcription	Osteobl	bone
15	chr8:38825200-38831200	Weak transcription	Fetal Heart	heart
16	chr8:38825200-38831800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:38825200-38833000	Strong transcription	Primary T cells from cord blood	blood
18	chr8:38825400-38831800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:38825800-38831400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr8:38826000-38831400	Strong transcription	Fetal Muscle Leg	muscle
21	chr8:38827200-38833200	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr8:38827400-38832800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:38827600-38831400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:38827600-38831800	Weak transcription	Pancreas	Pancrea
25	chr8:38827800-38831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:38827800-38831600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:38827800-38831600	Weak transcription	Esophagus	oesophagus
28	chr8:38827800-38831800	Weak transcription	Colonic Mucosa	Colon
29	chr8:38827800-38847600	Weak transcription	Small Intestine	intestine
30	chr8:38828000-38831200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:38828000-38831800	Weak transcription	Brain Anterior Caudate	brain
32	chr8:38828000-38831800	Weak transcription	Lung	lung
33	chr8:38828000-38837000	Weak transcription	HSMM	muscle
34	chr8:38828000-38847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:38828000-38848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:38828200-38831800	Weak transcription	Right Ventricle	heart
37	chr8:38828400-38848200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr8:38828800-38831200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:38828800-38831200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:38828800-38831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:38828800-38839400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:38828800-38848400	Weak transcription	HSMMtube	muscle
43	chr8:38829000-38831200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:38829000-38831200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr8:38829000-38831200	Weak transcription	Spleen	Spleen
46	chr8:38829000-38831200	Weak transcription	Dnd41	blood
47	chr8:38829000-38831400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:38829000-38831400	Weak transcription	HMEC	breast
49	chr8:38829000-38831600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:38829000-38831800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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