Variant report

Variant	rs11712694
Chromosome Location	chr3:155613391-155613392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12636569	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12638792	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12638836	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356252	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1711084	0.80[ASN][1000 genomes]
rs1878211	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067877	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2320318	0.97[EUR][1000 genomes]
rs28438758	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3772112	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs401514	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs406701	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs445758	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4679757	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4679758	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4680222	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs519400	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60788059	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441022	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6766927	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775044	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6777776	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6797289	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6806109	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs819844	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs819858	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs843931	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9820534	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9825321	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9846097	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9866164	0.81[ASN][1000 genomes]
rs9875112	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv877681	chr3:155535670-155654017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155590200-155643000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:155590200-155667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:155591400-155616200	Weak transcription	NHEK	skin
4	chr3:155594200-155622000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:155598600-155630000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:155599400-155616400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:155599800-155633400	Weak transcription	Right Ventricle	heart
8	chr3:155600400-155615400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:155600400-155617200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:155603800-155657800	Weak transcription	Esophagus	oesophagus
11	chr3:155604400-155658600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:155605000-155632600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:155607000-155633400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:155607200-155656800	Weak transcription	Small Intestine	intestine
15	chr3:155607400-155615400	Weak transcription	Brain Anterior Caudate	brain
16	chr3:155607400-155625800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:155607400-155630600	Weak transcription	Lung	lung
18	chr3:155607400-155632600	Weak transcription	Gastric	stomach
19	chr3:155607400-155669000	Weak transcription	Pancreas	Pancrea
20	chr3:155607800-155625600	Weak transcription	Brain Germinal Matrix	brain
21	chr3:155608200-155615000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr3:155608600-155615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:155608600-155616600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:155608600-155646400	Strong transcription	Dnd41	blood
25	chr3:155608800-155614800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:155608800-155614800	Weak transcription	HSMMtube	muscle
27	chr3:155608800-155615000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:155608800-155615000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr3:155608800-155615200	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:155608800-155615400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:155608800-155615800	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:155608800-155630000	Weak transcription	Fetal Heart	heart
33	chr3:155608800-155632600	Weak transcription	Spleen	Spleen
34	chr3:155608800-155633400	Weak transcription	Psoas Muscle	Psoas
35	chr3:155608800-155633800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:155608800-155654800	Weak transcription	Aorta	Aorta
37	chr3:155609000-155613400	Weak transcription	NHDF-Ad	bronchial
38	chr3:155609000-155615000	Weak transcription	GM12878-XiMat	blood
39	chr3:155609000-155615400	Weak transcription	Brain Angular Gyrus	brain
40	chr3:155609000-155615400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:155609000-155615600	Weak transcription	Brain Substantia Nigra	brain
42	chr3:155609000-155616000	Weak transcription	NHLF	lung
43	chr3:155609000-155630000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:155609000-155633800	Weak transcription	Stomach Mucosa	stomach
45	chr3:155609200-155614200	Weak transcription	HSMM	muscle
46	chr3:155609200-155622400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:155609200-155657200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:155609400-155615600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:155609600-155652000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:155609800-155615000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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