Variant report

Variant	rs2862744
Chromosome Location	chr3:142105519-142105520
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10935461	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11925693	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12695761	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13061823	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13075471	0.87[EUR][1000 genomes]
rs1825522	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2086933	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2171035	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2862743	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2862745	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862746	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28708455	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816805	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434160	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4441672	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4608715	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57177110	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440077	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6440078	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440082	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6769786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772400	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6777255	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6780250	0.81[EUR][1000 genomes]
rs6782897	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800695	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6802631	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7613664	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7627694	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646701	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7652687	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9289647	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9289648	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9816736	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9820770	0.81[EUR][1000 genomes]
rs9821271	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9826786	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9828178	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9847364	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9861997	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871402	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS 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	26 gene(s)	inside rSNPs	diseases
3	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
4	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv520523	chr3:141818850-142110818	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142046400-142112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:142057400-142111400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr3:142059400-142111400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:142060800-142111200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr3:142063600-142111200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr3:142064600-142111400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:142066800-142115000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:142072400-142114600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:142074000-142113800	Weak transcription	HMEC	breast
10	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:142076800-142106000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:142076800-142106400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr3:142076800-142106600	Weak transcription	Spleen	Spleen
14	chr3:142076800-142120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:142077200-142106000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:142080000-142114000	Weak transcription	NHLF	lung
18	chr3:142083200-142106600	Weak transcription	Gastric	stomach
19	chr3:142083200-142113800	Weak transcription	Small Intestine	intestine
20	chr3:142083200-142114200	Weak transcription	A549	lung
21	chr3:142083400-142114800	Weak transcription	HepG2	liver
22	chr3:142083600-142158600	Weak transcription	NHEK	skin
23	chr3:142086200-142111400	Strong transcription	Fetal Thymus	thymus
24	chr3:142091600-142108800	Weak transcription	Right Ventricle	heart
25	chr3:142091800-142106000	Weak transcription	Esophagus	oesophagus
26	chr3:142092800-142111200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr3:142093800-142105600	Weak transcription	Fetal Kidney	kidney
28	chr3:142094000-142105600	Weak transcription	Fetal Brain Male	brain
29	chr3:142094000-142105800	Weak transcription	Hela-S3	cervix
30	chr3:142094000-142106000	Weak transcription	K562	blood
31	chr3:142094000-142106200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:142094000-142114000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:142094400-142111400	Strong transcription	Liver	Liver
34	chr3:142096600-142113800	Weak transcription	HUVEC	blood vessel
35	chr3:142097000-142112600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:142097200-142106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:142097200-142108800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:142098000-142110600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:142098000-142111400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:142098200-142105800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:142098200-142110400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr3:142098600-142111400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:142099600-142106600	Weak transcription	Aorta	Aorta
44	chr3:142099800-142105800	Weak transcription	Brain Hippocampus Middle	brain
45	chr3:142099800-142106200	Weak transcription	Colonic Mucosa	Colon
46	chr3:142099800-142112600	Weak transcription	Pancreas	Pancrea
47	chr3:142100600-142111200	Strong transcription	Osteobl	bone
48	chr3:142100800-142107400	Weak transcription	Fetal Intestine Small	intestine
49	chr3:142100800-142108200	Weak transcription	Psoas Muscle	Psoas
50	chr3:142101000-142106200	Weak transcription	Placenta Amnion	Placenta Amnion

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