Variant report

Variant	rs13319147
Chromosome Location	chr3:43659449-43659450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:43651678..43655592-chr3:43657282..43661230,5	K562	blood:
2	chr3:43657328..43660169-chr3:43661823..43665210,4	K562	blood:
3	chr3:43639967..43641493-chr3:43658059..43660973,2	K562	blood:
4	chr3:43645888..43649296-chr3:43657154..43659992,5	K562	blood:
5	chr3:43656226..43657813-chr3:43658241..43660064,2	K562	blood:

Variant related genes	Relation type
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1013758	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10461013	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10461015	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130004	0.90[EUR][1000 genomes]
rs11130005	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12374079	0.81[EUR][1000 genomes]
rs12486736	0.91[EUR][1000 genomes]
rs12638282	0.91[EUR][1000 genomes]
rs1351631	0.87[EUR][1000 genomes]
rs1384435	0.91[EUR][1000 genomes]
rs1564434	0.87[EUR][1000 genomes]
rs17030517	0.85[EUR][1000 genomes]
rs1842806	0.84[EUR][1000 genomes]
rs1842807	0.82[EUR][1000 genomes]
rs1975997	0.87[EUR][1000 genomes]
rs2054553	0.81[EUR][1000 genomes]
rs2054554	0.81[EUR][1000 genomes]
rs2101064	0.91[EUR][1000 genomes]
rs2127725	0.84[EUR][1000 genomes]
rs3772160	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3772165	0.81[EUR][1000 genomes]
rs3821381	0.81[EUR][1000 genomes]
rs4264704	0.87[EUR][1000 genomes]
rs4505672	0.84[EUR][1000 genomes]
rs4682690	0.80[EUR][1000 genomes]
rs61102363	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6441786	0.84[EUR][1000 genomes]
rs737516	0.91[EUR][1000 genomes]
rs7616708	0.81[EUR][1000 genomes]
rs7621271	0.81[EUR][1000 genomes]
rs9311340	0.87[EUR][1000 genomes]
rs9311341	0.80[EUR][1000 genomes]
rs9809643	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9814737	0.90[EUR][1000 genomes]
rs9815196	0.87[EUR][1000 genomes]
rs9826275	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9829067	0.91[EUR][1000 genomes]
rs9830697	0.87[EUR][1000 genomes]
rs9834786	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9835793	0.87[EUR][1000 genomes]
rs9851894	0.84[EUR][1000 genomes]
rs9852783	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9873316	0.90[EUR][1000 genomes]
rs9878330	0.80[EUR][1000 genomes]
rs9881028	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43574800-43662400	Weak transcription	Right Ventricle	heart
2	chr3:43618600-43662400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:43625800-43662600	Weak transcription	Primary T cells from cord blood	blood
4	chr3:43633200-43662400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:43633400-43662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:43633400-43662600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:43633400-43662600	Weak transcription	Pancreas	Pancrea
8	chr3:43634000-43662400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:43634000-43662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:43634000-43662600	Weak transcription	Ovary	ovary
11	chr3:43634400-43662000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:43634600-43662400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:43635200-43659800	Weak transcription	Aorta	Aorta
14	chr3:43635200-43662600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:43637800-43660000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:43639400-43662400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:43639800-43662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:43642000-43662400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:43645400-43662400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:43645400-43662400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr3:43646200-43659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:43646200-43661800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:43646800-43659800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:43646800-43662000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:43646800-43662200	Weak transcription	HUVEC	blood vessel
26	chr3:43647000-43659800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr3:43647000-43662200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:43647000-43662200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:43647000-43662200	Weak transcription	NHEK	skin
30	chr3:43647200-43659800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:43647200-43661400	Weak transcription	HSMM	muscle
32	chr3:43647400-43662200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:43647400-43662200	Weak transcription	NHLF	lung
34	chr3:43647600-43662200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:43647600-43662200	Weak transcription	NHDF-Ad	bronchial
36	chr3:43648400-43662200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:43648400-43662200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:43648400-43662200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:43648400-43662200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:43654200-43662600	Weak transcription	Gastric	stomach
41	chr3:43654400-43662600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:43655200-43660200	Weak transcription	Small Intestine	intestine
43	chr3:43655600-43662200	Weak transcription	Fetal Intestine Large	intestine
44	chr3:43655600-43662200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:43656800-43659800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr3:43656800-43662200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr3:43656800-43662400	Weak transcription	Fetal Intestine Small	intestine
48	chr3:43657000-43662200	Weak transcription	HepG2	liver
49	chr3:43657000-43662400	Weak transcription	Colonic Mucosa	Colon
50	chr3:43657600-43659600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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