Variant report

Variant	rs1546753
Chromosome Location	chr3:119557075-119557076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1154595	0.82[ASN][1000 genomes]
rs13321783	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719890	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1719891	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1719894	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1732168	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1732170	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1903765	0.82[ASN][1000 genomes]
rs2126583	0.81[ASN][1000 genomes]
rs2319398	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2319399	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2472682	0.83[AMR][1000 genomes]
rs28536662	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3107669	0.92[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3732359	0.90[ASN][1000 genomes]
rs3732360	0.92[ASN][1000 genomes]
rs3732361	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4261913	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4491945	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57695730	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58605236	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6438552	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438553	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6781942	0.80[AMR][1000 genomes]
rs6782799	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6784598	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6785049	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6792572	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6795653	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6796420	0.81[ASN][1000 genomes]
rs6800622	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6805251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808975	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7611736	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7641045	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7644234	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9813864	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9866394	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9873477	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878473	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9879295	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
3	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
4	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
5	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:119539000-119576400	Weak transcription	Ovary	ovary
9	chr3:119540400-119563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
13	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:119541200-119561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:119541200-119587000	Weak transcription	Gastric	stomach
16	chr3:119541800-119559200	Weak transcription	Pancreas	Pancrea
17	chr3:119541800-119560000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:119542600-119560800	Weak transcription	Hela-S3	cervix
20	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
21	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
22	chr3:119544000-119561800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr3:119545000-119559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:119545000-119576400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr3:119545200-119559200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:119545200-119559400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:119545200-119561600	Weak transcription	Fetal Stomach	stomach
28	chr3:119545200-119562800	Weak transcription	NHLF	lung
29	chr3:119545200-119575000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:119545200-119575000	Weak transcription	Adipose Nuclei	Adipose
31	chr3:119545200-119575400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:119545200-119583400	Weak transcription	Brain Angular Gyrus	brain
33	chr3:119545800-119560400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:119545800-119576400	Weak transcription	Brain Germinal Matrix	brain
35	chr3:119545800-119581600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:119546000-119558200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:119546000-119558200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:119546000-119561800	Weak transcription	Left Ventricle	heart
39	chr3:119546000-119561800	Weak transcription	Thymus	Thymus
40	chr3:119546000-119569000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:119546000-119571800	Weak transcription	GM12878-XiMat	blood
42	chr3:119546000-119575000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr3:119546000-119576400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr3:119546000-119663400	Weak transcription	Lung	lung
45	chr3:119546200-119559400	Weak transcription	Fetal Thymus	thymus
46	chr3:119546200-119561400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:119546200-119569000	Weak transcription	Placenta	Placenta
48	chr3:119546200-119575000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:119546400-119567000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:119546400-119575200	Weak transcription	Liver	Liver

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