Variant report

Variant	rs4472323
Chromosome Location	chr6:161499898-161499899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161498068..161500201-chr6:161502387..161505321,2	K562	blood:
2	chr6:161497804..161499957-chr6:161534072..161535875,2	K562	blood:
3	chr6:161493297..161495719-chr6:161498983..161501000,2	K562	blood:
4	chr6:161496204..161498134-chr6:161499859..161501586,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1001809	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754459	1.00[JPT][hapmap]
rs11963931	1.00[JPT][hapmap]
rs13194157	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[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	0.90[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562026	0.81[CEU][hapmap];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	1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559074	1.00[ASN][1000 genomes]
rs4708898	1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709486	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709489	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709490	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709491	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]
rs4709492	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4709493	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709495	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709496	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs587501	1.00[ASN][1000 genomes]
rs615269	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs619393	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs628430	1.00[ASN][1000 genomes]
rs628923	1.00[ASN][1000 genomes]
rs6455701	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455703	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs645718	1.00[ASN][1000 genomes]
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	1.00[JPT][hapmap]
rs6902332	1.00[ASN][1000 genomes]
rs6902760	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905942	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913706	0.90[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914092	1.00[JPT][hapmap]
rs6918476	1.00[ASN][1000 genomes]
rs6919831	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923835	1.00[JPT][hapmap]
rs6925502	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6925800	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929462	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6933810	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs705829	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];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	0.86[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346846	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9355330	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355332	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355867	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9355872	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355873	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9364585	0.81[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9364586	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]
rs9365248	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9458126	0.97[AMR][1000 genomes];0.91[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
rs4472323	MAS1	cis	cerebellum	SCAN
rs4472323	LOC729603	cis	cerebellum	SCAN
rs4472323	OSTCL	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161453600-161506600	Weak transcription	Small Intestine	intestine
2	chr6:161456400-161501600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:161459400-161508800	Weak transcription	Hela-S3	cervix
4	chr6:161459800-161502800	Weak transcription	HUVEC	blood vessel
5	chr6:161462800-161508200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:161470600-161508000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:161471000-161503800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:161471400-161500600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:161478400-161501400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:161480200-161500800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:161486200-161519200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:161487800-161501000	Weak transcription	NHEK	skin
13	chr6:161488000-161501800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:161488200-161501600	Weak transcription	NHDF-Ad	bronchial
15	chr6:161489400-161501400	Weak transcription	Brain Anterior Caudate	brain
16	chr6:161489800-161502600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:161490000-161508000	Weak transcription	Fetal Heart	heart
18	chr6:161490800-161501800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr6:161490800-161501800	Weak transcription	Right Ventricle	heart
20	chr6:161490800-161508000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:161491000-161538400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:161491200-161508400	Weak transcription	Stomach Mucosa	stomach
23	chr6:161491600-161500000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:161491600-161516400	Strong transcription	Placenta	Placenta
25	chr6:161491600-161525400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:161491600-161528800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:161491600-161529000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:161491600-161539800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:161492200-161513800	Strong transcription	Fetal Intestine Large	intestine
30	chr6:161493000-161500600	Weak transcription	Colonic Mucosa	Colon
31	chr6:161493600-161502600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr6:161493800-161503800	Weak transcription	A549	lung
33	chr6:161493800-161521400	Strong transcription	Fetal Thymus	thymus
34	chr6:161494000-161505600	Strong transcription	GM12878-XiMat	blood
35	chr6:161494400-161509000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:161494400-161512600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:161494400-161513400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:161494400-161515400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:161494400-161525600	Strong transcription	Dnd41	blood
40	chr6:161494400-161542400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:161494800-161513800	Strong transcription	Fetal Brain Female	brain
42	chr6:161495000-161500800	Weak transcription	HMEC	breast
43	chr6:161495000-161501200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:161495000-161505800	Strong transcription	Lung	lung
45	chr6:161495000-161512800	Strong transcription	Ovary	ovary
46	chr6:161495000-161513400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr6:161495200-161513200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:161495200-161538000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:161495400-161512600	Strong transcription	Fetal Stomach	stomach
50	chr6:161495400-161515400	Strong transcription	Fetal Lung	lung

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