Variant report

Variant	rs2147657
Chromosome Location	chr6:33680398-33680399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33680227..33683293-chr6:33684221..33688907,5	K562	blood:
2	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
3	chr6:33660515..33666072-chr6:33673200..33680629,8	MCF-7	breast:
4	chr6:33680227..33683145-chr6:33684696..33687420,2	K562	blood:
5	chr6:33678014..33680671-chr6:33755515..33757218,2	K562	blood:

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000266509	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1014933	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10947430	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10947434	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10947435	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11759396	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1555965	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2147656	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2229642	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2274458	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2281829	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2296736	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296738	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296739	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2296741	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2296742	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28651968	0.83[AMR][1000 genomes]
rs2966	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3227	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818521	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3818523	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3818524	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3818525	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3818527	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3818529	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3818530	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711336	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4711337	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4711338	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4711339	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4711340	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4711343	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4713655	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713658	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4713659	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713660	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4713661	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713662	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713663	0.87[AFR][1000 genomes]
rs4713665	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713666	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713667	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713669	0.81[EUR][1000 genomes]
rs4713670	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713671	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713672	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4713674	0.90[AMR][1000 genomes]
rs509539	0.82[AMR][1000 genomes]
rs560111	0.82[AMR][1000 genomes]
rs60704560	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6457739	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6904816	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916949	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917140	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6928010	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6938056	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs749338	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs749847	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs753890	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs754404	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs764752	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs764754	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7739505	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7759668	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7770465	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs791902	0.82[AMR][1000 genomes]
rs791903	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9348924	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9348925	0.88[AMR][1000 genomes]
rs9366828	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368773	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9368776	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9380375	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394162	0.86[AFR][1000 genomes]
rs9394163	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942640	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs942641	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs942643	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469566	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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
rs2147657	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33679800-33681800	Weak transcription	Pancreas	Pancrea
2	chr6:33679800-33685000	Weak transcription	Lung	lung
3	chr6:33679800-33685600	Weak transcription	Placenta	Placenta
4	chr6:33680000-33680400	Enhancers	Dnd41	blood
5	chr6:33680000-33681200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:33680000-33681600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:33680000-33681600	Weak transcription	HepG2	liver
8	chr6:33680000-33682000	Weak transcription	Fetal Intestine Large	intestine
9	chr6:33680000-33682200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:33680000-33682200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:33680000-33683000	Weak transcription	Stomach Mucosa	stomach
12	chr6:33680000-33683800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:33680000-33683800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:33680000-33684000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:33680000-33684000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:33680000-33684000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:33680000-33684000	Weak transcription	Esophagus	oesophagus
18	chr6:33680000-33684000	Weak transcription	Gastric	stomach
19	chr6:33680000-33684000	Weak transcription	Left Ventricle	heart
20	chr6:33680000-33684000	Weak transcription	HMEC	breast
21	chr6:33680000-33684000	Weak transcription	NHEK	skin
22	chr6:33680000-33684200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:33680000-33684200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr6:33680000-33684200	Weak transcription	Fetal Lung	lung
25	chr6:33680000-33684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:33680000-33684400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr6:33680000-33684400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:33680000-33684600	Weak transcription	Fetal Brain Male	brain
29	chr6:33680000-33684600	Weak transcription	Fetal Kidney	kidney
30	chr6:33680000-33684800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:33680000-33684800	Weak transcription	Colon Smooth Muscle	Colon
32	chr6:33680000-33684800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:33680000-33684800	Weak transcription	NHLF	lung
34	chr6:33680000-33685000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:33680000-33685000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:33680000-33685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:33680000-33685000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:33680000-33685000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:33680000-33685000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:33680000-33685200	Weak transcription	Right Atrium	heart
41	chr6:33680000-33686000	Weak transcription	Right Ventricle	heart
42	chr6:33680000-33689400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:33680000-33690000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:33680000-33690200	Weak transcription	Psoas Muscle	Psoas
45	chr6:33680000-33693000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:33680000-33695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:33680000-33695800	Weak transcription	Spleen	Spleen
48	chr6:33680000-33696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:33680000-33698400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain

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