Variant report

Variant	rs4713666
Chromosome Location	chr6:33679061-33679062
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33265365..33267205-chr6:33677898..33679962,2	K562	blood:
2	chr15:75744060..75744813-chr6:33678935..33679655,2	Hela-S3	cervix:
3	chr6:33677651..33679939-chr6:34111673..34114600,2	MCF-7	breast:
4	chr6:33676238..33679184-chr6:33722714..33724604,2	MCF-7	breast:
5	chr6:33264498..33266775-chr6:33678035..33680124,2	MCF-7	breast:
6	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
7	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
8	chr6:33678240..33679964-chr6:34113479..34115343,2	MCF-7	breast:
9	chr6:33395342..33398838-chr6:33677022..33679442,4	K562	blood:
10	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:
11	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
12	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
13	chr6:33660515..33666072-chr6:33673200..33680629,8	MCF-7	breast:
14	chr6:33586029..33588725-chr6:33677027..33679418,2	MCF-7	breast:
15	chr10:98591909..98592710-chr6:33678934..33679670,2	Hela-S3	cervix:
16	chr6:33677680..33679812-chr6:33755384..33758328,2	MCF-7	breast:
17	chr6:33551901..33555908-chr6:33676752..33679381,5	K562	blood:
18	chr6:33678349..33679133-chr9:86595164..86595750,2	Hela-S3	cervix:
19	chr6:33678014..33680671-chr6:33755515..33757218,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178966	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000161904	Chromatin interaction
ENSG00000266509	Chromatin interaction
ENSG00000196233	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000197251	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	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947430	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10947434	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10947435	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11759396	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1555965	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147656	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2147657	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2229642	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2274458	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281829	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2296736	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296738	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296739	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2296741	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296742	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28651968	0.82[AMR][1000 genomes]
rs2966	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3227	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3818521	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3818523	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818524	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3818525	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818527	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3818529	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818530	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4711336	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711337	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711338	0.92[EUR][1000 genomes]
rs4711339	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4711340	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4711343	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713655	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713658	0.92[EUR][1000 genomes]
rs4713659	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4713660	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4713661	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713662	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4713663	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713665	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4713667	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713669	0.89[EUR][1000 genomes]
rs4713670	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713671	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713672	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713674	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs509539	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs560111	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60704560	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6457739	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6904816	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6916949	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6917140	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6928010	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6938056	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs749338	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs749847	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs753890	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs754404	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs764752	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764754	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7739505	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7759668	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7770465	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs791902	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs791903	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9348924	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9348925	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9366828	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9368773	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9368776	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9380375	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9394162	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9394163	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942640	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942641	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs942643	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9469566	0.92[AMR][1000 genomes];0.97[EUR][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
rs4713666	ITPR3	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33677400-33679200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:33677600-33679200	Flanking Active TSS	Fetal Brain Male	brain
3	chr6:33677800-33679200	Flanking Active TSS	Fetal Heart	heart
4	chr6:33678200-33679200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr6:33678200-33679200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:33678200-33679200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr6:33678200-33679200	Flanking Active TSS	Osteobl	bone
8	chr6:33678400-33679200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:33678400-33679200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr6:33678400-33679200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr6:33678400-33679200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:33678400-33679200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:33678400-33679200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:33678400-33679200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:33678400-33679200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:33678400-33679200	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr6:33678400-33679200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr6:33678400-33679200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr6:33678400-33679200	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr6:33678400-33679200	Flanking Active TSS	HepG2	liver
21	chr6:33678400-33679200	Flanking Active TSS	HUVEC	blood vessel
22	chr6:33678600-33679200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:33678600-33679200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:33678600-33679200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr6:33678600-33679200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr6:33678600-33679200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr6:33678600-33679200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr6:33678600-33679200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:33678600-33679200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr6:33678600-33679200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:33678600-33679200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:33678600-33679200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr6:33678600-33679200	Flanking Active TSS	Liver	Liver
34	chr6:33678600-33679200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr6:33678600-33679200	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr6:33678600-33679200	Flanking Active TSS	Fetal Stomach	stomach
37	chr6:33678600-33679200	Flanking Active TSS	Fetal Thymus	thymus
38	chr6:33678600-33679200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr6:33678600-33679800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:33678600-33679800	Active TSS	Fetal Kidney	kidney
41	chr6:33678600-33679800	Active TSS	A549	lung
42	chr6:33678600-33680000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr6:33678600-33680000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr6:33678600-33680200	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr6:33678800-33679200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:33678800-33679200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr6:33678800-33679200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr6:33678800-33679200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr6:33678800-33679200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:33678800-33679200	Flanking Active TSS	Placenta	Placenta

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