Variant report

Variant	rs6917140
Chromosome Location	chr6:33678394-33678395
allele	C/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	chr6:33677651..33679939-chr6:34111673..34114600,2	MCF-7	breast:
3	chr6:33676238..33679184-chr6:33722714..33724604,2	MCF-7	breast:
4	chr6:33264498..33266775-chr6:33678035..33680124,2	MCF-7	breast:
5	chr6:33588748..33590902-chr6:33677628..33680104,3	K562	blood:
6	chr6:33588748..33590595-chr6:33677611..33680104,2	K562	blood:
7	chr6:33678240..33679964-chr6:34113479..34115343,2	MCF-7	breast:
8	chr6:33395342..33398838-chr6:33677022..33679442,4	K562	blood:
9	chr6:33587667..33592228-chr6:33677016..33679936,5	MCF-7	breast:
10	chr6:33555432..33562879-chr6:33670455..33680174,12	K562	blood:
11	chr6:33677052..33678604-chr6:34122828..34124549,2	MCF-7	breast:
12	chr6:33677771..33685795-chr6:33753004..33758704,10	MCF-7	breast:
13	chr6:33554633..33558061-chr6:33675915..33678804,3	MCF-7	breast:
14	chr6:33660515..33666072-chr6:33673200..33680629,8	MCF-7	breast:
15	chr6:33586029..33588725-chr6:33677027..33679418,2	MCF-7	breast:
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
ENSG00000266509	Chromatin interaction
ENSG00000161904	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000124493	Chromatin interaction
ENSG00000269490	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000197251	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	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10947430	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10947434	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]
rs10947435	1.00[CHB][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11759396	0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1555965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147656	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2147657	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2229642	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2274458	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281829	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]
rs2296329	0.89[YRI][hapmap]
rs2296736	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296738	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2296739	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296741	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2296742	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28651968	0.82[AMR][1000 genomes]
rs2966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3227	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3818521	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3818523	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818524	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3818525	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3818529	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3818530	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4711336	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711337	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711338	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4711339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711340	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4711343	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713655	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713658	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713659	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713660	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713661	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713663	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4713665	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713666	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713669	0.89[EUR][1000 genomes]
rs4713670	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713671	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4713672	0.82[CHB][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713674	0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713675	1.00[CHB][hapmap]
rs509539	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs560111	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60704560	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6457739	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6904816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6916949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928010	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6938056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749338	0.87[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs749847	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs753890	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs754404	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs764752	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs764754	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7739505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7759668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7770465	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs791902	0.81[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs791903	0.88[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9348924	0.81[YRI][hapmap];0.85[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	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9368773	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9368776	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9380375	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394162	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9394163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942640	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs942643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469566	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[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
rs6917140	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	chr6:33663800-33678600	Weak transcription	Small Intestine	intestine
2	chr6:33665200-33678600	Weak transcription	Aorta	Aorta
3	chr6:33665600-33678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:33666600-33678400	Weak transcription	Colonic Mucosa	Colon
5	chr6:33666600-33678400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:33667000-33678400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:33673800-33678400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr6:33674200-33678400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr6:33674600-33678400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:33674800-33678400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:33675800-33678400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:33676000-33678600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:33676600-33678400	Genic enhancers	Fetal Muscle Leg	muscle
14	chr6:33677000-33678400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:33677000-33678600	Weak transcription	Ovary	ovary
16	chr6:33677200-33678400	Genic enhancers	Primary T cells from cord blood	blood
17	chr6:33677200-33678400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:33677200-33678600	Genic enhancers	Fetal Thymus	thymus
19	chr6:33677200-33678600	Enhancers	Left Ventricle	heart
20	chr6:33677400-33678400	Genic enhancers	NHLF	lung
21	chr6:33677400-33678600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:33677400-33678600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:33677400-33678600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:33677400-33678600	Genic enhancers	Placenta	Placenta
25	chr6:33677400-33678800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:33677400-33679200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr6:33677600-33678400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:33677600-33678400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:33677600-33678400	Genic enhancers	Psoas Muscle	Psoas
30	chr6:33677600-33678600	Genic enhancers	Gastric	stomach
31	chr6:33677600-33679000	Transcr. at gene 5' and 3'	NHEK	skin
32	chr6:33677600-33679200	Flanking Active TSS	Fetal Brain Male	brain
33	chr6:33677800-33678400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:33677800-33678400	Genic enhancers	Primary B cells from cord blood	blood
35	chr6:33677800-33678400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:33677800-33678400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr6:33677800-33678400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr6:33677800-33678400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr6:33677800-33678400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:33677800-33678400	Enhancers	Stomach Mucosa	stomach
41	chr6:33677800-33678600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:33677800-33678600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:33677800-33678600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:33677800-33678600	Enhancers	Brain Germinal Matrix	brain
45	chr6:33677800-33678600	Enhancers	HSMMtube	muscle
46	chr6:33677800-33678800	Enhancers	Primary B cells from peripheral blood	blood
47	chr6:33677800-33678800	Enhancers	Right Atrium	heart
48	chr6:33677800-33678800	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr6:33677800-33679000	Flanking Active TSS	Fetal Brain Female	brain
50	chr6:33677800-33679000	Flanking Active TSS	GM12878-XiMat	blood

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