Variant report

Variant	rs58493895
Chromosome Location	chr3:119539598-119539599
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:119539097..119541500-chr3:119541978..119544255,2	MCF-7	breast:
2	chr3:119538908..119542311-chr3:119543644..119546581,3	K562	blood:
3	chr3:119534052..119535744-chr3:119538553..119540497,2	MCF-7	breast:
4	chr20:52685889..52686408-chr3:119539503..119540491,2	MCF-7	breast:
5	chr3:119539565..119540086-chr3:119901520..119902156,2	MCF-7	breast:
6	chr3:119539576..119540526-chr3:119901251..119902442,9	MCF-7	breast:
7	chr3:119539560..119540841-chr3:119602119..119603320,7	MCF-7	breast:
8	chr3:119532575..119536291-chr3:119538231..119540719,3	K562	blood:
9	chr3:119538043..119540363-chr3:119581345..119583946,2	K562	blood:
10	chr3:119532575..119535119-chr3:119538231..119540719,2	K562	blood:
11	chr3:119535902..119537516-chr3:119539010..119541085,2	MCF-7	breast:

No data

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10433404	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10934500	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10934502	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10934503	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11915717	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11917714	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12054090	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12108149	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12629015	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12630829	0.81[ASN][1000 genomes]
rs12634476	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12634889	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12635018	0.81[ASN][1000 genomes]
rs12638973	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1574154	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16830567	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1870931	0.81[ASN][1000 genomes]
rs1980718	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276707	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2873950	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28831519	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3814057	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3814058	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4340737	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4624596	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4688042	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4688046	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688047	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4688054	0.83[ASN][1000 genomes]
rs56728675	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57939147	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60389731	0.85[AMR][1000 genomes]
rs60393216	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62264706	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62264708	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264714	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62264734	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62264739	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62264742	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62264743	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62264747	0.83[ASN][1000 genomes]
rs62264749	0.81[ASN][1000 genomes]
rs6773751	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6797459	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6808874	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7633279	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7639388	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119544000	Weak transcription	Right Atrium	heart
2	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:119529600-119543400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
5	chr3:119529800-119543600	Weak transcription	GM12878-XiMat	blood
6	chr3:119530200-119542800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:119532000-119543800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
9	chr3:119534000-119544800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
11	chr3:119535000-119544200	Weak transcription	HepG2	liver
12	chr3:119536000-119543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:119536200-119543000	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
15	chr3:119536400-119543200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:119536400-119543400	Weak transcription	HMEC	breast
17	chr3:119536400-119545600	Weak transcription	Left Ventricle	heart
18	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:119536600-119543400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:119536600-119543800	Weak transcription	HSMMtube	muscle
21	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:119536800-119543200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:119536800-119543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:119536800-119543600	Weak transcription	HSMM	muscle
26	chr3:119537000-119543000	Weak transcription	Adipose Nuclei	Adipose
27	chr3:119537000-119543200	Weak transcription	Fetal Intestine Large	intestine
28	chr3:119537000-119543600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:119537000-119544800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:119537200-119544600	Weak transcription	Duodenum Mucosa	Duodenum
32	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart
33	chr3:119537400-119540200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:119537400-119543400	Weak transcription	NHEK	skin
35	chr3:119537400-119543600	Weak transcription	Liver	Liver
36	chr3:119537600-119541600	Weak transcription	NHDF-Ad	bronchial
37	chr3:119537600-119543000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:119537800-119544600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:119538200-119543200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:119538200-119543200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:119538200-119543200	Weak transcription	Fetal Stomach	stomach
42	chr3:119538200-119543600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:119538200-119544800	Weak transcription	NHLF	lung
44	chr3:119538400-119543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:119538400-119543000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:119538400-119543800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:119538400-119545400	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr3:119538600-119543400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr3:119538600-119550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:119539000-119543200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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