Variant report

Variant	rs11712360
Chromosome Location	chr3:120504750-120504751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11708525	0.83[ASN][1000 genomes]
rs11713594	0.83[ASN][1000 genomes]
rs11714216	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11718363	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719207	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11719896	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720353	0.83[ASN][1000 genomes]
rs11720614	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17183618	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17184204	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17243218	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17243933	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059331	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2229308	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292170	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877413	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34319994	0.83[ASN][1000 genomes]
rs34565470	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41365345	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55663109	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55697401	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55869122	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56140323	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56267829	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6438590	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6769985	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6779005	0.83[ASN][1000 genomes]
rs73183728	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183730	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7637037	0.96[ASN][1000 genomes]
rs7647895	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
2	chr3:120482200-120505200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:120482200-120517600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:120483200-120509800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:120483400-120521200	Weak transcription	Fetal Heart	heart
6	chr3:120486000-120505000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:120491600-120511000	Weak transcription	HMEC	breast
8	chr3:120492400-120510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:120494400-120511000	Weak transcription	K562	blood
10	chr3:120495400-120510200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:120496200-120510200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:120496600-120506200	Weak transcription	Fetal Brain Female	brain
13	chr3:120499200-120515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:120499600-120511000	Weak transcription	Hela-S3	cervix
15	chr3:120500200-120509200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:120500200-120511000	Weak transcription	NHLF	lung
17	chr3:120500400-120504800	Weak transcription	Pancreas	Pancrea
18	chr3:120500400-120505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:120500400-120505400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:120500400-120505400	Weak transcription	Left Ventricle	heart
21	chr3:120500400-120505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:120500400-120509200	Weak transcription	Ovary	ovary
23	chr3:120500400-120510600	Weak transcription	NHDF-Ad	bronchial
24	chr3:120500400-120511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:120500400-120511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:120500600-120509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr3:120500600-120509600	Weak transcription	Thymus	Thymus
28	chr3:120500600-120509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:120500600-120510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:120500600-120510800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:120500600-120510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:120500600-120511000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:120500600-120511600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:120500600-120513000	Weak transcription	HepG2	liver
35	chr3:120501000-120505200	Weak transcription	Brain Substantia Nigra	brain
36	chr3:120501000-120513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:120501200-120505000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:120501200-120505000	Weak transcription	Fetal Thymus	thymus
39	chr3:120501200-120511000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:120501400-120510200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr3:120501400-120510200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr3:120501400-120510800	Weak transcription	HSMM	muscle
43	chr3:120501400-120511000	Weak transcription	NHEK	skin
44	chr3:120501400-120513800	Weak transcription	A549	lung
45	chr3:120501400-120514400	Weak transcription	Fetal Intestine Large	intestine
46	chr3:120501600-120504800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:120501600-120505400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:120501600-120505400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:120501600-120506800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:120501600-120507600	Weak transcription	Rectal Mucosa Donor 31	rectum

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