Variant report

Variant	rs10947434
Chromosome Location	chr6:33691501-33691502
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33673686..33677249-chr6:33690275..33693823,3	K562	blood:
2	chr6:33678200..33682184-chr6:33690933..33696225,5	K562	blood:
3	chr6:33690280..33692789-chr6:33697666..33699553,2	K562	blood:

Variant related genes	Relation type
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1014933	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10947430	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947435	1.00[CHB][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11759396	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1555965	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147656	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2147657	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2229642	0.92[EUR][1000 genomes]
rs2274458	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2281829	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]
rs2296736	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296738	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296739	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296741	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296742	0.92[EUR][1000 genomes]
rs28651968	0.87[AMR][1000 genomes]
rs2966	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3227	0.82[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3818521	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818523	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs3818524	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818525	0.92[EUR][1000 genomes]
rs3818527	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3818529	0.92[EUR][1000 genomes]
rs3818530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711336	0.81[CEU][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711337	0.91[EUR][1000 genomes]
rs4711338	0.92[EUR][1000 genomes]
rs4711339	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711340	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4711343	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713655	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713658	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs4713659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4713660	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713661	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713662	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4713663	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4713665	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713666	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4713667	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713669	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4713670	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713671	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713672	0.81[CEU][hapmap];0.83[CHB][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4713674	0.81[CEU][hapmap];0.90[CHB][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713675	1.00[CHB][hapmap]
rs509539	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs560111	0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60704560	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6457739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[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];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916949	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6917140	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[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];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938056	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs749338	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs749847	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs753890	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs754404	0.92[EUR][1000 genomes]
rs764752	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764754	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7739505	0.96[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7759668	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7770465	0.96[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs791902	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs791903	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9348924	0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9348925	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9366828	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9368773	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368776	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9380375	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394162	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9394163	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs942640	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs942641	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs942643	0.96[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9469566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.98[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
rs10947434	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33680000-33695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:33680000-33695800	Weak transcription	Spleen	Spleen
4	chr6:33680000-33696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:33680000-33698400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:33685200-33693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:33686200-33700200	Weak transcription	Liver	Liver
9	chr6:33686400-33691600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:33686400-33691800	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:33686600-33695800	Weak transcription	Right Atrium	heart
13	chr6:33686600-33698600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr6:33687400-33692600	Enhancers	Stomach Mucosa	stomach
15	chr6:33687400-33694000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:33687800-33693200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:33688000-33692000	Weak transcription	Brain Substantia Nigra	brain
18	chr6:33688800-33698200	Weak transcription	Lung	lung
19	chr6:33688800-33700000	Strong transcription	HSMM	muscle
20	chr6:33689200-33696800	Strong transcription	HSMMtube	muscle
21	chr6:33689400-33695000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:33689600-33691800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr6:33689600-33691800	Enhancers	Pancreas	Pancrea
24	chr6:33689600-33694600	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:33689600-33696600	Enhancers	Fetal Brain Male	brain
26	chr6:33689800-33691800	Genic enhancers	Left Ventricle	heart
27	chr6:33690000-33691600	Enhancers	Rectal Smooth Muscle	rectum
28	chr6:33690200-33691600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:33690200-33692000	Strong transcription	Psoas Muscle	Psoas
30	chr6:33690600-33691800	Enhancers	Ovary	ovary
31	chr6:33690600-33692600	Enhancers	Fetal Lung	lung
32	chr6:33690600-33694200	Weak transcription	Placenta	Placenta
33	chr6:33690800-33692000	Weak transcription	Right Ventricle	heart
34	chr6:33690800-33708200	Weak transcription	Gastric	stomach
35	chr6:33691000-33691600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:33691000-33692000	Enhancers	Primary T cells from cord blood	blood
37	chr6:33691000-33692400	Genic enhancers	Brain Hippocampus Middle	brain
38	chr6:33691000-33693200	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr6:33691200-33691600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr6:33691200-33691800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:33691200-33692800	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr6:33691400-33691800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr6:33691400-33692600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:33691400-33692600	Enhancers	Fetal Stomach	stomach
45	chr6:33691400-33692800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr6:33691400-33693400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr6:33691400-33694000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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