Variant report

Variant	rs56018450
Chromosome Location	chr8:38856336-38856337
allele	A/G
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	chr8:38855230-38856824	U87	brain:	n/a	n/a
2	POLR2A	chr8:38856293-38857149	HCT-116	colon:	n/a	n/a
3	REST	chr8:38855875-38858248	A549	lung:	n/a	n/a
4	MAX	chr8:38855778-38858136	A549	lung:	n/a	n/a
5	CHD1	chr8:38852795-38859264	IMR90	lung:	n/a	chr8:38854280-38854290 chr8:38854954-38854964
6	MXI1	chr8:38853328-38856347	IMR90	lung:	n/a	n/a
7	POLR2A	chr8:38855360-38857879	U87	brain:	n/a	n/a
8	EP300	chr8:38856336-38857759	SK-N-SH	brain:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
9	MAX	chr8:38856278-38857193	HCT-116	colon:	n/a	n/a
10	JUND	chr8:38856242-38857808	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
11	JUND	chr8:38856048-38857845	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
12	FOSL1	chr8:38856232-38858172	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031 chr8:38857969-38857977
13	EP300	chr8:38856335-38857301	K562	blood:	n/a	chr8:38856880-38856887 chr8:38856710-38856719
14	POLR2A	chr8:38856265-38856772	Hela-S3	cervix:	n/a	n/a
15	SIN3AK20	chr8:38856251-38857580	A549	lung:	n/a	n/a
16	BCL3	chr8:38856176-38857561	A549	lung:	n/a	n/a
17	POLR2A	chr8:38853451-38857678	IMR90	lung:	n/a	n/a
18	FOSL2	chr8:38856335-38857760	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857020-38857031 chr8:38856994-38857003 chr8:38857022-38857031
19	TAF1	chr8:38855816-38856781	A549	lung:	n/a	n/a
20	JUND	chr8:38855969-38857752	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
21	CEBPB	chr8:38856258-38858383	HCT-116	colon:	n/a	chr8:38857269-38857281
22	GATA3	chr8:38856199-38857930	A549	lung:	n/a	n/a
23	POLR2A	chr8:38854756-38856987	HUVEC	blood vessel:	n/a	n/a
24	SP1	chr8:38856225-38858131	HCT-116	colon:	n/a	n/a
25	POLR2A	chr8:38854896-38859164	HUVEC	blood vessel:	n/a	n/a
26	FOXM1	chr8:38856326-38857829	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr8:38856006-38856818	HepG2	liver:	n/a	n/a
28	MXI1	chr8:38856148-38857028	Hela-S3	cervix:	n/a	n/a
29	USF1	chr8:38856290-38856975	HCT-116	colon:	n/a	n/a
30	NFIC	chr8:38856316-38857843	SK-N-SH	brain:	n/a	n/a
31	BRCA1	chr8:38855120-38857561	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:38855026-38859169	HUVEC	blood vessel:	n/a	n/a
33	FOSL1	chr8:38856313-38857777	HCT-116	colon:	n/a	chr8:38857182-38857194 chr8:38856994-38857003 chr8:38857022-38857031
34	POLR2A	chr8:38856225-38856768	Hela-S3	cervix:	n/a	n/a
35	EP300	chr8:38856309-38857774	A549	lung:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
36	POLR2A	chr8:38855958-38857666	HUVEC	blood vessel:	n/a	n/a
37	SIN3AK20	chr8:38856115-38857221	A549	lung:	n/a	n/a
38	MAX	chr8:38856057-38857153	Hela-S3	cervix:	n/a	n/a
39	TCF12	chr8:38853459-38859347	A549	lung:	n/a	chr8:38853682-38853690 chr8:38854813-38854820
40	JUND	chr8:38856313-38857807	SK-N-SH	brain:	n/a	chr8:38857182-38857194 chr8:38857021-38857032 chr8:38856994-38857003 chr8:38857022-38857031
41	POLR2A	chr8:38856313-38857522	MCF10A-Er-Src	breast:	n/a	n/a
42	SP1	chr8:38856219-38858178	HCT-116	colon:	n/a	n/a
43	POLR2A	chr8:38853548-38857906	U87	brain:	n/a	n/a
44	SIN3AK20	chr8:38856239-38857772	HCT-116	colon:	n/a	n/a
45	POLR2A	chr8:38854863-38857661	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr8:38856251-38857181	HepG2	liver:	n/a	n/a
47	EP300	chr8:38856304-38858248	A549	lung:	n/a	chr8:38856880-38856887 chr8:38857418-38857432 chr8:38856710-38856719
48	GATA3	chr8:38856236-38857809	SK-N-SH	brain:	n/a	n/a
49	MAX	chr8:38856314-38857124	A549	lung:	n/a	n/a
50	FOSL2	chr8:38856187-38858261	A549	lung:	n/a	chr8:38857182-38857194 chr8:38857020-38857031 chr8:38856994-38857003 chr8:38857022-38857031 chr8:38857969-38857977

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:38642891..38646001-chr8:38852513..38856801,5	K562	blood:
2	chr8:38849173..38851753-chr8:38855572..38858070,2	MCF-7	breast:

Variant related genes	Relation type
TM2D2	TF binding region
ENSG00000147526	Chromatin interaction
ENSG00000169490	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10091297	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10093975	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095616	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10441608	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10809000	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11784624	0.80[AMR][1000 genomes]
rs12156418	0.82[AMR][1000 genomes]
rs28372047	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28434452	0.84[AMR][1000 genomes]
rs28523000	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28563781	0.80[AMR][1000 genomes]
rs28564878	0.80[AMR][1000 genomes]
rs28579045	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28690874	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28868044	0.82[AMR][1000 genomes]
rs4615534	0.80[AMR][1000 genomes]
rs4733904	0.81[AMR][1000 genomes]
rs4733962	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59814883	0.83[AMR][1000 genomes]
rs6474517	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66513029	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67200247	0.82[AMR][1000 genomes]
rs6991383	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6991968	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997721	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7006414	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7006535	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7015505	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7464810	0.80[AMR][1000 genomes]
rs7814264	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7818363	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7821437	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7823125	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7830975	0.82[AMR][1000 genomes]
rs7831735	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7832284	0.82[AMR][1000 genomes]
rs7832975	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7833430	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7834967	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835604	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7836422	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7840044	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7840270	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7842543	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7842732	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7844927	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9650347	0.84[AMR][1000 genomes]
rs9987222	0.81[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs56018450	ADAM32	cis	Nerve Tibial	GTEx
rs56018450	ADAM32	cis	Artery Tibial	GTEx
rs56018450	ADAM32	cis	Adipose Subcutaneous	GTEx
rs56018450	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	chr8:38852600-38856600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:38852600-38856600	Active TSS	Esophagus	oesophagus
3	chr8:38852600-38856600	Active TSS	Lung	lung
4	chr8:38852600-38856800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:38852600-38857400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:38852600-38857400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:38852600-38857600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:38852600-38857600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:38852600-38857600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:38852800-38856600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:38852800-38856800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:38852800-38857600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:38852800-38857600	Active TSS	Right Ventricle	heart
14	chr8:38852800-38857600	Active TSS	NH-A	brain
15	chr8:38852800-38857800	Active TSS	A549	lung
16	chr8:38852800-38857800	Active TSS	NHLF	lung
17	chr8:38853000-38856400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:38853000-38856400	Active TSS	HSMMtube	muscle
19	chr8:38853000-38856600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:38853000-38856600	Active TSS	Ovary	ovary
21	chr8:38853000-38856800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:38853000-38856800	Active TSS	Fetal Muscle Trunk	muscle
23	chr8:38853000-38857000	Active TSS	Placenta Amnion	Placenta Amnion
24	chr8:38853000-38857400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr8:38853000-38857600	Active TSS	HSMM	muscle
26	chr8:38853200-38856400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:38853200-38856400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:38853200-38856400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:38853200-38856400	Active TSS	Fetal Intestine Large	intestine
30	chr8:38853200-38856400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:38853200-38856400	Active TSS	GM12878-XiMat	blood
32	chr8:38853200-38856400	Active TSS	Hela-S3	cervix
33	chr8:38853200-38856600	Active TSS	Gastric	stomach
34	chr8:38853200-38856600	Active TSS	Osteobl	bone
35	chr8:38853200-38856800	Active TSS	Aorta	Aorta
36	chr8:38853200-38856800	Active TSS	Left Ventricle	heart
37	chr8:38853200-38857000	Active TSS	Duodenum Mucosa	Duodenum
38	chr8:38853200-38857000	Active TSS	Stomach Mucosa	stomach
39	chr8:38853200-38857200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:38853200-38857200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:38853200-38857200	Active TSS	Brain Angular Gyrus	brain
42	chr8:38853200-38857200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:38853200-38857400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:38853200-38857400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:38853200-38857400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr8:38853200-38857400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:38853200-38857400	Active TSS	HMEC	breast
48	chr8:38853200-38857400	Active TSS	NHDF-Ad	bronchial
49	chr8:38853200-38857400	Active TSS	NHEK	skin
50	chr8:38853400-38856400	Active TSS	Pancreatic Islets	Pancreatic Islet

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