Variant report

Variant	rs9493438
Chromosome Location	chr6:133098349-133098350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:133082471..133084490-chr6:133097635..133100360,2	MCF-7	breast:
2	chr6:133096911..133098792-chr6:133099700..133101688,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10457596	0.83[ASN][1000 genomes]
rs10484629	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11962883	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11964512	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11965927	0.84[AFR][1000 genomes]
rs12198849	0.83[ASN][1000 genomes]
rs12203977	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12204027	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12211701	0.90[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1467403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467404	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3736725	0.84[AFR][1000 genomes]
rs3813347	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58832890	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59716502	0.84[AFR][1000 genomes]
rs60133731	0.80[AFR][1000 genomes]
rs60631157	0.84[AFR][1000 genomes]
rs61421874	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62424539	0.83[ASN][1000 genomes]
rs6569847	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6569848	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910639	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6912936	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915168	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6926101	0.83[AFR][1000 genomes]
rs6934161	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73554431	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7738071	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7744961	0.85[AFR][1000 genomes]
rs7758703	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761207	0.82[AFR][1000 genomes]
rs7761365	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765224	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769051	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7770081	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775241	0.82[AFR][1000 genomes]
rs9321367	1.00[ASN][1000 genomes]
rs9321371	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9399041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493435	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493437	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9493441	0.82[AFR][1000 genomes]
rs9493443	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493444	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493445	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493446	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9493454	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9493438	C6orf192	cis	multi-tissue	Pritchard
rs9493438	C6orf192	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133083600-133099000	Weak transcription	Left Ventricle	heart
2	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr6:133085000-133109000	Weak transcription	GM12878-XiMat	blood
4	chr6:133085000-133114600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:133085000-133119000	Weak transcription	Thymus	Thymus
6	chr6:133085200-133112200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:133085400-133114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:133085600-133098800	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:133085600-133099800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:133085600-133118800	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:133085800-133100000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:133085800-133100000	Weak transcription	Aorta	Aorta
14	chr6:133085800-133119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:133086000-133112800	Weak transcription	Hela-S3	cervix
16	chr6:133086000-133113800	Weak transcription	NHEK	skin
17	chr6:133086000-133118800	Weak transcription	Fetal Kidney	kidney
18	chr6:133086200-133107800	Weak transcription	Osteobl	bone
19	chr6:133086400-133110200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:133086600-133099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:133086600-133103400	Weak transcription	Brain Anterior Caudate	brain
22	chr6:133088200-133111200	Weak transcription	HUVEC	blood vessel
23	chr6:133088600-133099200	Weak transcription	Fetal Brain Female	brain
24	chr6:133088600-133114600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:133089400-133100000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:133089400-133104400	Weak transcription	Brain Germinal Matrix	brain
27	chr6:133089400-133110400	Weak transcription	Colonic Mucosa	Colon
28	chr6:133089400-133111800	Weak transcription	Lung	lung
29	chr6:133089400-133119400	Weak transcription	Gastric	stomach
30	chr6:133089600-133099000	Weak transcription	Fetal Thymus	thymus
31	chr6:133089600-133099800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:133089600-133099800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr6:133089600-133100000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:133089600-133100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:133089600-133100000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:133089600-133102000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:133089600-133111400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:133089600-133111400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:133089600-133111800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:133089600-133118800	Weak transcription	Fetal Heart	heart
41	chr6:133089600-133119000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr6:133089600-133119200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr6:133089600-133119200	Weak transcription	Right Ventricle	heart
44	chr6:133089600-133119200	Weak transcription	Stomach Mucosa	stomach
45	chr6:133089600-133119400	Weak transcription	Pancreas	Pancrea
46	chr6:133089800-133118200	Weak transcription	Fetal Brain Male	brain
47	chr6:133089800-133118800	Weak transcription	Brain Angular Gyrus	brain
48	chr6:133090000-133100600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:133090000-133118800	Weak transcription	HepG2	liver
50	chr6:133090400-133114200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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