Variant report

Variant	rs3756803
Chromosome Location	chr6:46096038-46096039
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	EBF1	chr6:46095896-46096440	GM12878	blood:	n/a	n/a
2	WRNIP1	chr6:46095916-46096047	GM12878	blood:	n/a	n/a
3	STAT3	chr6:46095757-46096056	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENPP4	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1048076	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1048082	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1048083	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10807334	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10948280	0.84[AFR][1000 genomes]
rs10948283	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11754760	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11756160	0.86[AFR][1000 genomes]
rs12196107	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12215921	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12526912	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13210366	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs14781	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2006030	0.87[AFR][1000 genomes]
rs2143746	0.85[AFR][1000 genomes]
rs2143747	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2179760	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2206965	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2206967	0.86[AFR][1000 genomes]
rs2206968	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2223777	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2223778	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2235881	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2235883	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2894662	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756801	0.87[AFR][1000 genomes]
rs3756802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777634	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3806994	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3806995	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3905440	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6458490	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458491	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6902187	0.87[AFR][1000 genomes]
rs6921870	0.87[AFR][1000 genomes]
rs6923745	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926570	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6930766	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71544217	0.82[AMR][1000 genomes]
rs71566566	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7356841	0.85[AFR][1000 genomes]
rs7356846	0.85[AFR][1000 genomes]
rs7357078	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7451713	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7745824	0.86[AFR][1000 genomes]
rs7748442	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7748469	0.82[EUR][1000 genomes]
rs7754582	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7769738	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7769902	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7770384	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7773230	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7775082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8180644	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs872859	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs910179	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349348	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9357500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9357501	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9367233	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9367234	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9367237	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9369599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369600	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9381430	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9395155	0.86[AFR][1000 genomes]
rs9395158	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9395159	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9463184	0.87[AFR][1000 genomes]
rs9463185	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9472688	0.87[AFR][1000 genomes]
rs9472689	0.86[AFR][1000 genomes]
rs9472690	0.86[AFR][1000 genomes]
rs9472694	0.86[AMR][1000 genomes]
rs9472698	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9472700	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9472704	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9472707	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9472708	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472709	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472713	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9472715	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs995564	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022912	chr6:46093409-46116449	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3756803	ENPP5	cis	Thyroid	GTEx
rs3756803	RP1-8B1.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46081600-46096400	Weak transcription	Thymus	Thymus
2	chr6:46083000-46096200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:46087400-46097000	Weak transcription	Aorta	Aorta
4	chr6:46093400-46096400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr6:46094200-46096800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:46094400-46096800	Enhancers	Primary B cells from cord blood	blood
7	chr6:46094800-46096800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:46095000-46097000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:46095200-46096400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:46095200-46097000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:46095400-46096200	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:46095400-46096200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:46095400-46096200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:46095400-46096400	Enhancers	Psoas Muscle	Psoas
15	chr6:46095400-46096600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:46095400-46096600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:46095400-46096800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:46095400-46097000	Enhancers	Primary B cells from peripheral blood	blood
19	chr6:46095400-46097000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:46095400-46097000	Enhancers	Brain Substantia Nigra	brain
21	chr6:46095400-46097000	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr6:46095600-46096200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:46095600-46096600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:46095600-46096600	Enhancers	Stomach Mucosa	stomach
25	chr6:46095600-46096800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:46095600-46096800	Flanking Active TSS	GM12878-XiMat	blood
27	chr6:46095600-46097000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:46095600-46097000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr6:46095600-46097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:46095800-46096200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:46095800-46096400	Enhancers	Left Ventricle	heart
32	chr6:46095800-46096400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:46095800-46096600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:46095800-46096800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr6:46095800-46097000	Enhancers	Brain Angular Gyrus	brain
36	chr6:46095800-46097000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr6:46096000-46096200	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr6:46096000-46096200	Enhancers	Duodenum Mucosa	Duodenum
39	chr6:46096000-46096400	Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:46096000-46096400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:46096000-46096400	Enhancers	Right Ventricle	heart
42	chr6:46096000-46096600	Enhancers	Brain Cingulate Gyrus	brain
43	chr6:46096000-46096600	Enhancers	Spleen	Spleen
44	chr6:46096000-46096800	Enhancers	Liver	Liver
45	chr6:46096000-46096800	Enhancers	Pancreas	Pancrea
46	chr6:46096000-46096800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr6:46096000-46097000	Enhancers	Brain Hippocampus Middle	brain
48	chr6:46096000-46097200	Flanking Active TSS	Dnd41	blood

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