Variant report

Variant	rs934712
Chromosome Location	chr2:209184844-209184845
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10171006	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173938	0.91[ASN][1000 genomes]
rs10175739	1.00[EUR][1000 genomes]
rs10176626	0.94[ASN][1000 genomes]
rs10186531	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10189031	0.94[ASN][1000 genomes]
rs10197824	0.80[AFR][1000 genomes]
rs10197951	0.81[AFR][1000 genomes]
rs10197958	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10201702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208004	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10208191	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10208295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10210393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10804168	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932256	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932260	0.94[ASN][1000 genomes]
rs11677618	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11691208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691313	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11695873	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12185547	1.00[EUR][1000 genomes]
rs12465862	1.00[EUR][1000 genomes]
rs12478198	1.00[EUR][1000 genomes]
rs12479282	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12617521	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12618837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12621871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12623816	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694105	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12694109	1.00[EUR][1000 genomes]
rs12694111	0.80[AMR][1000 genomes]
rs1370370	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446320	1.00[EUR][1000 genomes]
rs1446321	1.00[EUR][1000 genomes]
rs1465803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1465804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1529979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1561240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1584200	0.91[ASN][1000 genomes]
rs16840898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16840936	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838794	1.00[EUR][1000 genomes]
rs1838795	1.00[EUR][1000 genomes]
rs1838796	1.00[EUR][1000 genomes]
rs1866044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1866045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1900239	0.94[ASN][1000 genomes]
rs2028146	1.00[EUR][1000 genomes]
rs2043720	1.00[EUR][1000 genomes]
rs2044457	1.00[EUR][1000 genomes]
rs2118295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118296	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2118297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2196604	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2304544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2363463	1.00[EUR][1000 genomes]
rs2363465	0.85[ASN][1000 genomes]
rs2363466	0.91[ASN][1000 genomes]
rs2363468	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2363469	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2363579	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2885785	1.00[EUR][1000 genomes]
rs2885786	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4499359	0.90[AFR][1000 genomes]
rs4673385	1.00[EUR][1000 genomes]
rs4673386	1.00[EUR][1000 genomes]
rs4673390	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4673391	0.91[ASN][1000 genomes]
rs4673392	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4673393	0.94[ASN][1000 genomes]
rs4673395	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673396	0.91[AFR][1000 genomes]
rs4675745	1.00[EUR][1000 genomes]
rs4675747	1.00[EUR][1000 genomes]
rs4675748	0.94[ASN][1000 genomes]
rs4675750	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675751	0.94[ASN][1000 genomes]
rs4675754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4675755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4675757	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675758	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4675760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57553077	1.00[EUR][1000 genomes]
rs57797425	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60446438	0.90[ASN][1000 genomes]
rs6435436	1.00[EUR][1000 genomes]
rs6435437	1.00[EUR][1000 genomes]
rs6435441	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435444	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435445	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435450	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6435452	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6435454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6705163	1.00[EUR][1000 genomes]
rs6708926	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709286	0.88[AFR][1000 genomes]
rs6711933	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713477	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720289	0.87[AFR][1000 genomes]
rs6721780	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6724208	0.94[ASN][1000 genomes]
rs6725932	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6730328	0.81[AFR][1000 genomes]
rs6733607	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736599	0.94[ASN][1000 genomes]
rs6742461	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751982	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983727	0.94[ASN][1000 genomes]
rs7564882	1.00[EUR][1000 genomes]
rs7569723	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574324	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576852	1.00[EUR][1000 genomes]
rs7580715	1.00[EUR][1000 genomes]
rs7581075	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587752	0.94[ASN][1000 genomes]
rs7605498	1.00[EUR][1000 genomes]
rs893253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs893255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs893256	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283521	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288392	0.94[ASN][1000 genomes]
rs934714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959855	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646839	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs976247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994696	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs994697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv875752	chr2:209141066-209235373	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209147400-209225600	Weak transcription	Stomach Mucosa	stomach
2	chr2:209160000-209188800	Weak transcription	Small Intestine	intestine
3	chr2:209163000-209187400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:209163200-209187400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:209163400-209187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:209165800-209204000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:209166200-209189600	Weak transcription	Pancreas	Pancrea
8	chr2:209166600-209189000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:209170000-209190000	Weak transcription	Right Ventricle	heart
10	chr2:209170200-209189600	Weak transcription	Colonic Mucosa	Colon
11	chr2:209174000-209187400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:209178800-209187400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:209179000-209185800	Strong transcription	Fetal Intestine Large	intestine
14	chr2:209179000-209190600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:209179000-209220600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:209179600-209186200	Strong transcription	Placenta	Placenta
17	chr2:209180400-209185400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:209180400-209185600	Weak transcription	Aorta	Aorta
19	chr2:209180400-209189800	Weak transcription	Esophagus	oesophagus
20	chr2:209180400-209189800	Weak transcription	Hela-S3	cervix
21	chr2:209180400-209190000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:209180600-209185000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:209180600-209185400	Weak transcription	Lung	lung
24	chr2:209180600-209186400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:209180600-209187200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:209180600-209189000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:209180600-209190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:209180600-209190000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:209180600-209190200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:209180600-209224600	Strong transcription	Fetal Thymus	thymus
31	chr2:209181200-209187000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:209182000-209187200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:209182000-209187400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:209182000-209187400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:209182000-209187400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:209182200-209185800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:209182200-209185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:209182200-209185800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:209182200-209185800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:209182200-209186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:209182200-209186400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:209182200-209186800	Strong transcription	HepG2	liver
43	chr2:209182200-209187000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:209182200-209187000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:209182200-209187000	Strong transcription	Primary T cells from cord blood	blood
46	chr2:209182200-209187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:209182200-209187200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:209182200-209187400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:209182200-209187400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:209182200-209187400	Strong transcription	Liver	Liver

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