Variant report

Variant	rs9364586
Chromosome Location	chr6:161506939-161506940
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161503095..161506959-chr6:161507248..161511122,5	K562	blood:
2	chr6:161505679..161509602-chr6:161513922..161516452,3	K562	blood:
3	chr6:161411971..161414738-chr6:161504105..161507225,3	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1001809	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1464779	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1464780	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1543261	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562026	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1982291	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2275925	1.00[JPT][hapmap]
rs2275926	1.00[JPT][hapmap]
rs2872613	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472323	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709486	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709491	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709492	0.89[EUR][1000 genomes]
rs4709493	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709495	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709496	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587501	1.00[ASN][1000 genomes]
rs615269	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs619393	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs628430	1.00[ASN][1000 genomes]
rs628923	1.00[ASN][1000 genomes]
rs6455701	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455703	0.89[EUR][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
rs647923	0.84[TSI][hapmap]
rs657551	1.00[ASN][1000 genomes]
rs668638	1.00[ASN][1000 genomes]
rs682110	1.00[ASN][1000 genomes]
rs683549	1.00[ASN][1000 genomes]
rs6900500	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913706	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923835	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs6925502	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6933810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705829	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs705830	1.00[ASN][1000 genomes]
rs7738762	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7753585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7760056	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346846	0.88[EUR][1000 genomes]
rs9355330	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355867	0.83[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355872	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355873	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364585	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9365248	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9458126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030045	chr6:161359075-161562255	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1023982	chr6:161382188-161549831	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9364586	OSTCL	cis	parietal	SCAN
rs9364586	MAS1	cis	cerebellum	SCAN
rs9364586	LOC729603	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
2	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:161490000-161508000	Weak transcription	Fetal Heart	heart
6	chr6:161490800-161508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr6:161491200-161508400	Weak transcription	Stomach Mucosa	stomach
9	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
10	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
15	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
16	chr6:161494400-161509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:161494400-161525600	Strong transcription	Dnd41	blood
21	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
23	chr6:161495000-161512800	Strong transcription	Ovary	ovary
24	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
28	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung
29	chr6:161495400-161516400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr6:161495600-161507000	Strong transcription	Fetal Intestine Small	intestine
31	chr6:161495600-161512800	Strong transcription	Fetal Muscle Leg	muscle
32	chr6:161496000-161508200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:161496000-161539800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:161497000-161512600	Strong transcription	Thymus	Thymus
35	chr6:161497000-161513000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:161497400-161508600	Weak transcription	Right Atrium	heart
37	chr6:161497800-161539600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:161498000-161541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr6:161498200-161515400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:161498600-161525600	Strong transcription	Primary T cells from cord blood	blood
41	chr6:161499000-161512800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:161499000-161531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr6:161499200-161515400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:161499200-161517000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr6:161499400-161511000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr6:161499800-161515600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:161499800-161521600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:161500200-161540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr6:161500400-161515400	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:161500400-161517000	Strong transcription	Liver	Liver

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