Variant report

Variant	rs2281829
Chromosome Location	chr6:33675642-33675643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33673686..33677249-chr6:33690275..33693823,3	K562	blood:
2	chr6:33659672..33661992-chr6:33673865..33675730,2	MCF-7	breast:
3	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
4	chr6:33601381..33603643-chr6:33673390..33675664,2	K562	blood:
5	chr6:33674390..33676592-chr6:34040123..34042729,2	MCF-7	breast:
6	chr6:33673158..33676456-chr6:33698317..33701048,3	MCF-7	breast:
7	chr6:33674734..33677061-chr6:34117510..34119427,2	K562	blood:
8	chr6:33545816..33547496-chr6:33675270..33677360,2	K562	blood:
9	chr6:33660515..33666072-chr6:33673200..33680629,8	MCF-7	breast:
10	chr6:33674250..33675922-chr6:33684521..33687700,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197251	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000266509	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1014933	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10947430	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10947435	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11759396	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1555965	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147656	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2147657	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2229642	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2274458	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2296736	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2296738	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296739	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296741	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296742	0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28651968	0.84[AMR][1000 genomes]
rs2966	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3227	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818521	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818523	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3818524	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818525	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3818527	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818529	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3818530	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711336	1.00[ASW][hapmap];0.81[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4711337	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4711338	0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4711339	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711340	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711343	0.90[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713655	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713658	0.82[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713659	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713660	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713661	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713662	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713663	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713665	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713666	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4713667	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713669	0.89[EUR][1000 genomes]
rs4713670	1.00[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713671	1.00[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713672	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713674	0.90[ASW][hapmap];0.81[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713675	1.00[CHB][hapmap];0.81[TSI][hapmap]
rs509539	0.83[EUR][1000 genomes]
rs542441	0.85[CHD][hapmap]
rs560111	0.81[CHB][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs60704560	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6457739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916949	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917140	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6928010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938056	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs749338	0.88[ASW][hapmap];0.88[CEU][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs749847	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs753890	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs754404	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764752	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs764754	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7739505	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7759668	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7770465	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs791902	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs791903	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[EUR][1000 genomes]
rs9348924	0.88[CHB][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9348925	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9366828	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368773	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368776	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380375	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394162	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9394163	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs942640	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs942641	0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942643	0.90[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469566	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2281829	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33661800-33675800	Weak transcription	Ovary	ovary
2	chr6:33663000-33678200	Weak transcription	Fetal Kidney	kidney
3	chr6:33663800-33678600	Weak transcription	Small Intestine	intestine
4	chr6:33664600-33678000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr6:33664800-33676200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:33665200-33678000	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:33665200-33678200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:33665200-33678600	Weak transcription	Aorta	Aorta
9	chr6:33665400-33677800	Weak transcription	Stomach Mucosa	stomach
10	chr6:33665600-33678200	Weak transcription	NH-A	brain
11	chr6:33665600-33678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:33665800-33676600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:33666000-33676200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:33666000-33676600	Weak transcription	Brain Angular Gyrus	brain
15	chr6:33666000-33677800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:33666000-33678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:33666200-33677600	Weak transcription	Psoas Muscle	Psoas
18	chr6:33666400-33677800	Weak transcription	Brain Anterior Caudate	brain
19	chr6:33666600-33675800	Weak transcription	Adipose Nuclei	Adipose
20	chr6:33666600-33677800	Weak transcription	Right Atrium	heart
21	chr6:33666600-33678200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:33666600-33678400	Weak transcription	Colonic Mucosa	Colon
23	chr6:33666600-33678400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:33667000-33678400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr6:33667200-33675800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:33667200-33675800	Weak transcription	Brain Hippocampus Middle	brain
27	chr6:33667200-33676000	Weak transcription	Brain Germinal Matrix	brain
28	chr6:33667200-33676800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:33668400-33677800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:33668600-33675800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:33668600-33675800	Weak transcription	HUVEC	blood vessel
32	chr6:33668600-33676000	Weak transcription	Pancreas	Pancrea
33	chr6:33668600-33676000	Weak transcription	Right Ventricle	heart
34	chr6:33668600-33676200	Weak transcription	Primary B cells from cord blood	blood
35	chr6:33668600-33676200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:33668600-33677800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr6:33668600-33677800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:33668600-33678000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:33668600-33678200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:33668600-33678200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:33668800-33676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:33668800-33676400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:33668800-33676400	Weak transcription	A549	lung
44	chr6:33669200-33677800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr6:33669600-33675800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:33669600-33675800	Weak transcription	HMEC	breast
47	chr6:33669600-33676600	Weak transcription	Hela-S3	cervix
48	chr6:33669800-33676000	Weak transcription	Left Ventricle	heart
49	chr6:33670400-33676200	Weak transcription	HSMM	muscle
50	chr6:33670400-33676400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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