Variant report

Variant	rs11719896
Chromosome Location	chr3:120503960-120503961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11708525	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11708642	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11712360	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713594	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11714216	0.83[ASN][1000 genomes]
rs11718363	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719207	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11720353	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11720614	0.93[AFR][1000 genomes]
rs17183618	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17184204	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17243218	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17243933	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229308	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292170	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877413	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34319994	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34565470	0.83[ASN][1000 genomes]
rs41365345	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55663109	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55697401	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55869122	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56140323	0.85[ASN][1000 genomes]
rs6438590	0.83[ASN][1000 genomes]
rs6769985	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6779005	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73183728	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183730	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637037	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7647895	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised 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	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
3	chr3:120482200-120505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
7	chr3:120486000-120505000	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:120491600-120511000	Weak transcription	HMEC	breast
9	chr3:120492400-120510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:120494400-120511000	Weak transcription	K562	blood
11	chr3:120495400-120510200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:120495600-120504600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:120496200-120510200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:120496600-120506200	Weak transcription	Fetal Brain Female	brain
15	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:120499600-120511000	Weak transcription	Hela-S3	cervix
17	chr3:120500200-120504400	Weak transcription	Gastric	stomach
18	chr3:120500200-120509200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:120500200-120511000	Weak transcription	NHLF	lung
20	chr3:120500400-120504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:120500400-120504600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:120500400-120504600	Weak transcription	Aorta	Aorta
23	chr3:120500400-120504600	Weak transcription	Lung	lung
24	chr3:120500400-120504800	Weak transcription	Pancreas	Pancrea
25	chr3:120500400-120505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:120500400-120505400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:120500400-120505400	Weak transcription	Left Ventricle	heart
28	chr3:120500400-120505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:120500400-120509200	Weak transcription	Ovary	ovary
30	chr3:120500400-120510600	Weak transcription	NHDF-Ad	bronchial
31	chr3:120500400-120511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:120500400-120511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:120500600-120504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:120500600-120509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:120500600-120509600	Weak transcription	Thymus	Thymus
36	chr3:120500600-120509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr3:120500600-120510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:120500600-120510800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:120500600-120510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:120500600-120511000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr3:120500600-120511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr3:120500600-120513000	Weak transcription	HepG2	liver
43	chr3:120500800-120504600	Weak transcription	Fetal Stomach	stomach
44	chr3:120501000-120505200	Weak transcription	Brain Substantia Nigra	brain
45	chr3:120501000-120513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:120501200-120504600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr3:120501200-120505000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:120501200-120505000	Weak transcription	Fetal Thymus	thymus
49	chr3:120501200-120511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:120501400-120504000	Weak transcription	Brain Inferior Temporal Lobe	brain

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