Variant report

Variant	rs11711318
Chromosome Location	chr3:141264369-141264370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11557453	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11707656	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11708253	0.81[EUR][1000 genomes]
rs11713714	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11714208	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11716776	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11717144	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11717842	0.92[EUR][1000 genomes]
rs12695734	0.81[EUR][1000 genomes]
rs12695735	0.80[EUR][1000 genomes]
rs12695736	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12695740	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12695741	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12695743	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13067519	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13068454	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13072100	0.83[EUR][1000 genomes]
rs13078872	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13083593	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13084444	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13088429	0.81[EUR][1000 genomes]
rs13095168	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13099945	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863870	0.81[EUR][1000 genomes]
rs2312194	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34317570	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34342794	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732872	0.83[ASN][1000 genomes]
rs3806647	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4334619	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71619392	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs720663	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7651511	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9289634	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9808953	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9822575	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9823528	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9829588	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9830055	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9833121	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9836050	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9836818	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9837202	0.81[EUR][1000 genomes]
rs9838230	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9838419	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9840159	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9840697	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9843866	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9849180	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9850416	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9865971	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9868956	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9870749	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9873042	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[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	nsv1006237	chr3:141227525-141300722	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1014365	chr3:141235379-141282615	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141229400-141267400	Weak transcription	Fetal Heart	heart
2	chr3:141236200-141281600	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:141236400-141276000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:141236400-141301000	Weak transcription	Brain Substantia Nigra	brain
5	chr3:141236400-141306600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:141236600-141275800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:141236600-141297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:141236600-141299400	Weak transcription	Gastric	stomach
9	chr3:141237000-141265400	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:141237000-141299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:141242200-141274800	Weak transcription	Lung	lung
12	chr3:141243400-141299400	Weak transcription	Spleen	Spleen
13	chr3:141246000-141278400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:141249200-141274600	Weak transcription	Liver	Liver
15	chr3:141254600-141270800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:141254600-141294400	Weak transcription	Esophagus	oesophagus
17	chr3:141254800-141266600	Weak transcription	K562	blood
18	chr3:141254800-141266800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:141254800-141269000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:141254800-141274000	Weak transcription	HepG2	liver
21	chr3:141254800-141274600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr3:141254800-141275000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:141254800-141291400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:141254800-141292200	Weak transcription	Left Ventricle	heart
25	chr3:141254800-141295200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:141254800-141299200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:141254800-141299400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:141254800-141299400	Weak transcription	Right Ventricle	heart
29	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:141255000-141274600	Weak transcription	Placenta	Placenta
31	chr3:141255200-141304800	Weak transcription	Ovary	ovary
32	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:141255400-141277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
35	chr3:141257000-141300200	Weak transcription	Pancreas	Pancrea
36	chr3:141258600-141275000	Weak transcription	HMEC	breast
37	chr3:141259200-141265800	Strong transcription	Fetal Thymus	thymus
38	chr3:141259400-141265000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:141259400-141265000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:141259600-141265000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:141259800-141265800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr3:141260000-141276600	Weak transcription	Hela-S3	cervix
43	chr3:141260800-141276400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:141261000-141265000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr3:141261000-141265200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr3:141261000-141265400	Strong transcription	A549	lung
47	chr3:141261000-141269800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:141261000-141270200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:141261400-141265600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:141261400-141278600	Weak transcription	NHLF	lung

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