Variant report

Variant	rs9483461
Chromosome Location	chr6:132804877-132804878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:132804028..132806228-chr6:133134838..133137167,2	K562	blood:
2	chr6:132600529..132601845-chr6:132804524..132806236,14	K562	blood:
3	chr6:132605923..132608233-chr6:132804599..132807585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112306	Chromatin interaction
ENSG00000206754	Chromatin interaction

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73772506	1.00[AFR][1000 genomes];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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73776244	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73776253	1.00[AFR][1000 genomes];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]
rs9483462	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9483464	1.00[EUR][1000 genomes]
rs9483465	1.00[EUR][1000 genomes]
rs9483466	0.88[YRI][hapmap];0.96[AFR][1000 genomes];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]
rs9493320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493328	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9493330	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493331	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9493332	1.00[YRI][hapmap];0.96[AFR][1000 genomes];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	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132778200-132810800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:132784200-132822000	Weak transcription	Thymus	Thymus
3	chr6:132785200-132811200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:132786200-132805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:132787200-132811800	Weak transcription	Colonic Mucosa	Colon
6	chr6:132789400-132811000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:132791000-132811200	Weak transcription	Fetal Brain Female	brain
8	chr6:132791200-132809000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:132791200-132810600	Weak transcription	Aorta	Aorta
10	chr6:132791200-132810600	Weak transcription	Lung	lung
11	chr6:132791200-132811200	Weak transcription	Pancreas	Pancrea
12	chr6:132791200-132813000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:132791200-132818200	Weak transcription	Brain Germinal Matrix	brain
14	chr6:132791200-132821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:132791800-132814800	Weak transcription	HSMMtube	muscle
16	chr6:132793200-132811800	Weak transcription	Small Intestine	intestine
17	chr6:132793200-132814800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:132793200-132818000	Weak transcription	HepG2	liver
19	chr6:132793600-132805000	Weak transcription	Liver	Liver
20	chr6:132793600-132805200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:132793600-132811200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr6:132793600-132812400	Weak transcription	NH-A	brain
23	chr6:132794000-132810800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:132794000-132811200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:132794000-132811800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr6:132794200-132810000	Weak transcription	Left Ventricle	heart
27	chr6:132794600-132811200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:132794800-132811200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr6:132795000-132805800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:132795200-132811200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:132795400-132807800	Weak transcription	Fetal Intestine Small	intestine
32	chr6:132796600-132810600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:132798400-132805000	Weak transcription	Osteobl	bone
34	chr6:132799400-132806200	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr6:132799400-132810600	Genic enhancers	Primary B cells from cord blood	blood
36	chr6:132799800-132805000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr6:132800000-132812400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:132800200-132805200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:132800200-132805200	Weak transcription	Psoas Muscle	Psoas
40	chr6:132800200-132805400	Weak transcription	Ovary	ovary
41	chr6:132800600-132805200	Weak transcription	Fetal Heart	heart
42	chr6:132800800-132812600	Weak transcription	K562	blood
43	chr6:132801600-132806000	Genic enhancers	GM12878-XiMat	blood
44	chr6:132801800-132810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:132802000-132807000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:132802000-132811000	Weak transcription	Primary T cells from cord blood	blood
47	chr6:132802000-132811200	Weak transcription	Placenta	Placenta
48	chr6:132802200-132807400	Weak transcription	Fetal Intestine Large	intestine
49	chr6:132802200-132811600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr6:132802400-132805600	Weak transcription	Esophagus	oesophagus

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