Variant report

Variant	rs9493320
Chromosome Location	chr6:132766295-132766296
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132761690..132763931-chr6:132765561..132768375,2	K562	blood:
2	chr6:132757307..132760586-chr6:132764048..132767384,4	K562	blood:
3	chr6:132757167..132760078-chr6:132765710..132767384,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12333184	1.00[EUR][1000 genomes]
rs55842913	1.00[EUR][1000 genomes]
rs55845566	1.00[EUR][1000 genomes]
rs57190537	1.00[EUR][1000 genomes]
rs57791045	1.00[EUR][1000 genomes]
rs61306520	1.00[EUR][1000 genomes]
rs6911959	1.00[EUR][1000 genomes]
rs6912883	1.00[EUR][1000 genomes]
rs6913154	1.00[EUR][1000 genomes]
rs6928744	1.00[EUR][1000 genomes]
rs6934767	1.00[EUR][1000 genomes]
rs6935153	1.00[EUR][1000 genomes]
rs6935328	1.00[EUR][1000 genomes]
rs73544073	1.00[EUR][1000 genomes]
rs73544079	1.00[EUR][1000 genomes]
rs73547919	1.00[EUR][1000 genomes]
rs7356873	1.00[EUR][1000 genomes]
rs7356940	1.00[EUR][1000 genomes]
rs73772503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772507	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772509	1.00[EUR][1000 genomes]
rs73772522	1.00[EUR][1000 genomes]
rs73772526	1.00[EUR][1000 genomes]
rs73772527	1.00[EUR][1000 genomes]
rs73772529	1.00[EUR][1000 genomes]
rs73772530	1.00[EUR][1000 genomes]
rs73772531	1.00[EUR][1000 genomes]
rs73772532	1.00[EUR][1000 genomes]
rs73772534	1.00[EUR][1000 genomes]
rs73776238	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73776244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73776253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7744822	1.00[EUR][1000 genomes]
rs7764352	1.00[EUR][1000 genomes]
rs9483451	1.00[EUR][1000 genomes]
rs9483461	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483462	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483464	1.00[EUR][1000 genomes]
rs9483465	1.00[EUR][1000 genomes]
rs9483466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483467	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483471	1.00[EUR][1000 genomes]
rs9493303	1.00[EUR][1000 genomes]
rs9493304	1.00[EUR][1000 genomes]
rs9493307	1.00[EUR][1000 genomes]
rs9493322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493328	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9493330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493335	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493337	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830811	chr6:132623160-132787539	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132760000-132767200	Weak transcription	Primary B cells from cord blood	blood
2	chr6:132761400-132766400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:132762600-132778000	Weak transcription	Aorta	Aorta
4	chr6:132762600-132778000	Weak transcription	Gastric	stomach
5	chr6:132763800-132766600	Weak transcription	A549	lung
6	chr6:132764000-132767000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:132764000-132774600	Weak transcription	Fetal Lung	lung
8	chr6:132764200-132771000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:132764200-132774800	Weak transcription	Placenta	Placenta
10	chr6:132764400-132768200	Enhancers	Osteobl	bone
11	chr6:132764400-132780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:132764600-132768400	Enhancers	NHDF-Ad	bronchial
13	chr6:132764600-132769000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:132764600-132776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:132764600-132779400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:132764800-132766600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:132764800-132768200	Enhancers	NH-A	brain
18	chr6:132764800-132768200	Enhancers	NHLF	lung
19	chr6:132764800-132774600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:132764800-132777800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:132765000-132767000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr6:132765000-132767200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:132765000-132777000	Weak transcription	Left Ventricle	heart
24	chr6:132765200-132766600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:132765200-132767400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:132765200-132768200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:132765200-132769600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:132765400-132766400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:132765400-132777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:132765400-132779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:132765400-132780200	Weak transcription	Fetal Brain Female	brain
32	chr6:132765400-132782400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:132765600-132766400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:132765600-132767800	Weak transcription	HSMMtube	muscle
35	chr6:132765600-132770800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:132765600-132772400	Weak transcription	Liver	Liver
37	chr6:132765600-132780000	Weak transcription	Pancreas	Pancrea
38	chr6:132765600-132791000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:132765800-132766400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:132765800-132767200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:132765800-132768000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:132765800-132768200	Enhancers	HSMM	muscle
43	chr6:132765800-132776600	Weak transcription	HUVEC	blood vessel
44	chr6:132766000-132766600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:132766200-132766600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr6:132766200-132766600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:132766200-132766600	Weak transcription	HMEC	breast

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