Variant report

Variant	rs7372149
Chromosome Location	chr3:48979231-48979232
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	chr3:48979183-48979305	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr3:48979189-48979302	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ARIH2	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10780033	0.86[EUR][1000 genomes]
rs11130176	0.83[EUR][1000 genomes]
rs1134591	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11705737	0.90[EUR][1000 genomes]
rs11920534	0.88[EUR][1000 genomes]
rs11924597	0.89[EUR][1000 genomes]
rs12493289	0.86[EUR][1000 genomes]
rs12637037	0.86[EUR][1000 genomes]
rs13064883	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13064911	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13072911	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13076394	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13078308	0.80[EUR][1000 genomes]
rs13315711	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13316620	0.87[EUR][1000 genomes]
rs28642807	0.87[EUR][1000 genomes]
rs4072859	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4974079	0.86[EUR][1000 genomes]
rs4974080	0.89[EUR][1000 genomes]
rs4974082	0.92[EUR][1000 genomes]
rs4974084	0.85[EUR][1000 genomes]
rs4974085	0.87[EUR][1000 genomes]
rs4974087	0.87[EUR][1000 genomes]
rs4974091	0.86[EUR][1000 genomes]
rs6414613	0.89[EUR][1000 genomes]
rs6446196	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6446198	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6446205	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6446252	0.86[EUR][1000 genomes]
rs6446253	0.86[EUR][1000 genomes]
rs6768433	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6781790	0.89[EUR][1000 genomes]
rs6786665	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6789285	0.87[EUR][1000 genomes]
rs6791234	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6795025	0.86[EUR][1000 genomes]
rs7373778	0.82[EUR][1000 genomes]
rs7373790	0.87[EUR][1000 genomes]
rs7430198	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7430501	0.86[EUR][1000 genomes]
rs7431710	0.89[EUR][1000 genomes]
rs7431857	0.86[EUR][1000 genomes]
rs7432989	0.81[EUR][1000 genomes]
rs7612459	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7615235	0.83[EUR][1000 genomes]
rs7615675	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7621015	0.90[EUR][1000 genomes]
rs7623023	0.85[EUR][1000 genomes]
rs7626445	0.83[EUR][1000 genomes]
rs7627404	0.83[EUR][1000 genomes]
rs7628719	0.92[EUR][1000 genomes]
rs7636057	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7639332	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7643368	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7647093	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7649458	0.85[EUR][1000 genomes]
rs8926	0.87[EUR][1000 genomes]
rs9311430	0.83[EUR][1000 genomes]
rs9311432	0.83[EUR][1000 genomes]
rs9311433	0.83[EUR][1000 genomes]
rs9311434	0.85[EUR][1000 genomes]
rs9681717	0.86[EUR][1000 genomes]
rs9682444	0.83[EUR][1000 genomes]
rs9754878	0.86[EUR][1000 genomes]
rs9755490	0.86[EUR][1000 genomes]
rs9830636	0.82[EUR][1000 genomes]
rs9835307	0.83[EUR][1000 genomes]
rs9840684	0.86[EUR][1000 genomes]
rs9846123	0.86[EUR][1000 genomes]
rs9850134	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9867373	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9876848	0.83[EUR][1000 genomes]
rs9879971	0.86[EUR][1000 genomes]
rs9884022	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs7372149	PH-4	Cis_1M	lymphoblastoid	RTeQTL
rs7372149	CCDC36	cis	Artery Tibial	GTEx
rs7372149	WDR6	cis	Adipose Subcutaneous	GTEx
rs7372149	NICN1	cis	Thyroid	GTEx
rs7372149	WDR6	cis	Skin Sun Exposed Lower leg	GTEx
rs7372149	WDR6	cis	Esophagus Mucosa	GTEx
rs7372149	WDR6	cis	Stomach	GTEx
rs7372149	WDR6	cis	lung	GTEx
rs7372149	NCKIPSD	cis	Esophagus Muscularis	GTEx
rs7372149	WDR6	cis	Artery Tibial	GTEx
rs7372149	WDR6	cis	Nerve Tibial	GTEx
rs7372149	AMT	cis	Thyroid	GTEx
rs7372149	WDR6	cis	Whole Blood	GTEx
rs7372149	NCKIPSD	cis	Nerve Tibial	GTEx
rs7372149	AMT	cis	Muscle Skeletal	GTEx
rs7372149	NICN1-AS1	cis	Thyroid	GTEx
rs7372149	NCKIPSD	cis	Muscle Skeletal	GTEx
rs7372149	WDR6	cis	Esophagus Muscularis	GTEx
rs7372149	WDR6	cis	Muscle Skeletal	GTEx
rs7372149	ARIH2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48957400-49003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:48962000-49000400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:48965200-49004200	Weak transcription	Colonic Mucosa	Colon
4	chr3:48965400-48981200	Weak transcription	Right Ventricle	heart
5	chr3:48965400-49000000	Weak transcription	Esophagus	oesophagus
6	chr3:48965800-48995400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:48965800-49000000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:48965800-49004000	Weak transcription	Fetal Brain Male	brain
9	chr3:48966000-48986000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:48966000-49008000	Weak transcription	Fetal Kidney	kidney
11	chr3:48966600-48986200	Weak transcription	NHLF	lung
12	chr3:48966800-48986200	Weak transcription	HMEC	breast
13	chr3:48967200-48980800	Weak transcription	Aorta	Aorta
14	chr3:48967400-48994800	Weak transcription	Gastric	stomach
15	chr3:48967600-48983400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:48968000-48997200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:48968200-48997200	Weak transcription	NHDF-Ad	bronchial
18	chr3:48970400-48982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:48970400-48982200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:48970400-48982400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:48970400-48984000	Weak transcription	Brain Angular Gyrus	brain
22	chr3:48970400-49004400	Weak transcription	Pancreas	Pancrea
23	chr3:48970600-48991600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:48970800-48986600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:48970800-48991000	Weak transcription	Lung	lung
26	chr3:48970800-49002000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:48971000-48982200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:48971000-48994800	Weak transcription	Spleen	Spleen
29	chr3:48971400-48980600	Weak transcription	Fetal Stomach	stomach
30	chr3:48971400-48986200	Weak transcription	Brain Anterior Caudate	brain
31	chr3:48971400-48991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:48971400-48991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:48971600-48993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:48971800-48980800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr3:48972000-49000400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr3:48972200-48982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:48972400-48980600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr3:48972400-48980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr3:48972400-48982000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr3:48972400-48982400	Weak transcription	HSMMtube	muscle
41	chr3:48972400-48991200	Weak transcription	Adipose Nuclei	Adipose
42	chr3:48972400-48995400	Weak transcription	Brain Germinal Matrix	brain
43	chr3:48972400-48995400	Weak transcription	Ovary	ovary
44	chr3:48972800-48982400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr3:48972800-48991200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:48973000-48982000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:48973000-48983000	Weak transcription	Fetal Lung	lung
48	chr3:48973200-48982200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:48973200-48982400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:48973400-48980600	Weak transcription	Psoas Muscle	Psoas

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