Variant report

Variant	rs1076738
Chromosome Location	chr6:46096883-46096884
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	chr6:46096074-46098778	GM12891	blood:	n/a	n/a
2	SREBP2	chr6:46096067-46098783	GM12878	blood:	n/a	n/a
3	GATA1	chr6:46096646-46098816	PBDE	blood:	n/a	chr6:46096968-46096978 chr6:46097748-46097756

Variant related genes	Relation type
ENPP4	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1011370	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1047153	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1048076	0.82[CEU][hapmap];0.89[GIH][hapmap]
rs1048077	0.84[CEU][hapmap]
rs12196107	0.82[CEU][hapmap]
rs13210417	0.92[ASN][1000 genomes]
rs14781	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs2143747	0.82[CEU][hapmap];0.91[GIH][hapmap]
rs2179760	0.82[CEU][hapmap];0.91[GIH][hapmap]
rs3734208	0.94[ASN][1000 genomes]
rs3756802	0.82[CEU][hapmap]
rs3806995	0.82[CEU][hapmap];0.86[GIH][hapmap]
rs4496799	0.91[ASN][1000 genomes]
rs5011271	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs6458491	0.82[CEU][hapmap];0.91[GIH][hapmap]
rs6900403	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6921636	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6926570	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs6930766	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs7357078	0.82[CEU][hapmap];0.89[GIH][hapmap]
rs7754915	0.81[CEU][hapmap]
rs7760042	0.97[ASN][1000 genomes]
rs7762549	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7766019	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7769738	0.82[CEU][hapmap]
rs7770384	0.81[CEU][hapmap]
rs7775082	0.82[CEU][hapmap];0.91[GIH][hapmap]
rs910179	0.82[CEU][hapmap];0.86[GIH][hapmap]
rs9357500	0.81[CEU][hapmap]
rs9367235	0.81[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs9369597	0.80[CEU][hapmap]
rs9369598	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9369600	0.82[CEU][hapmap]
rs9381430	0.82[CEU][hapmap]
rs9395154	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9395156	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs9472686	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9472691	0.80[AMR][1000 genomes]
rs9472701	0.93[ASN][1000 genomes]
rs9472703	0.93[ASN][1000 genomes]
rs9472712	0.83[ASN][1000 genomes]
rs993632	0.98[ASN][1000 genomes]
rs995563	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs995564	0.82[CEU][hapmap];0.91[GIH][hapmap]

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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1076738	ENPP5	cis	cerebellum	SCAN
rs1076738	CLIC5	cis	parietal	SCAN
rs1076738	ENPP4	cis	parietal	SCAN
rs1076738	GLTSCR2	trans	cerebellum	SCAN
rs1076738	ENPP5	cis	parietal	SCAN
rs1076738	ZNF318	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46087400-46097000	Weak transcription	Aorta	Aorta
2	chr6:46095000-46097000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:46095200-46097000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr6:46095400-46097000	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:46095400-46097000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:46095400-46097000	Enhancers	Brain Substantia Nigra	brain
7	chr6:46095400-46097000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:46095600-46097000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:46095600-46097000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr6:46095600-46097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:46095800-46097000	Enhancers	Brain Angular Gyrus	brain
12	chr6:46095800-46097000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:46096000-46097000	Enhancers	Brain Hippocampus Middle	brain
14	chr6:46096000-46097200	Flanking Active TSS	Dnd41	blood
15	chr6:46096200-46097000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr6:46096200-46097200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:46096200-46097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:46096200-46097600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr6:46096200-46098000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:46096200-46098600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr6:46096400-46097000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr6:46096400-46097000	Enhancers	Fetal Heart	heart
23	chr6:46096400-46097000	Enhancers	Fetal Thymus	thymus
24	chr6:46096400-46098200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:46096400-46098200	Active TSS	Rectal Smooth Muscle	rectum
26	chr6:46096600-46097000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:46096600-46097000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:46096600-46097000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:46096600-46097000	Active TSS	Adipose Nuclei	Adipose
30	chr6:46096600-46097000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr6:46096600-46097000	Enhancers	Fetal Intestine Large	intestine
32	chr6:46096600-46097000	Enhancers	Stomach Smooth Muscle	stomach
33	chr6:46096600-46097200	Weak transcription	Stomach Mucosa	stomach
34	chr6:46096600-46097200	Weak transcription	Spleen	Spleen
35	chr6:46096600-46097600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr6:46096600-46098200	Active TSS	Primary T cells fromperipheralblood	blood
37	chr6:46096600-46098800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:46096600-46098800	Active TSS	Left Ventricle	heart
39	chr6:46096600-46098800	Active TSS	Psoas Muscle	Psoas
40	chr6:46096600-46098800	Active TSS	Right Atrium	heart
41	chr6:46096600-46098800	Active TSS	Right Ventricle	heart
42	chr6:46096800-46097000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr6:46096800-46097000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr6:46096800-46097000	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:46096800-46097000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr6:46096800-46097000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr6:46096800-46097000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr6:46096800-46097000	Enhancers	Colon Smooth Muscle	Colon
49	chr6:46096800-46097000	Active TSS	Fetal Kidney	kidney
50	chr6:46096800-46097000	Weak transcription	Pancreas	Pancrea

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