Variant report

Variant	rs62345882
Chromosome Location	chr5:14512805-14512806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14511374..14513824-chr5:14610575..14613467,2	MCF-7	breast:
2	chr5:14509987..14512027-chr5:14512735..14515188,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10053327	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17500731	0.80[EUR][1000 genomes]
rs17500808	0.91[EUR][1000 genomes]
rs3898746	0.89[EUR][1000 genomes]
rs62345057	0.87[EUR][1000 genomes]
rs62345058	0.87[EUR][1000 genomes]
rs62345059	0.87[EUR][1000 genomes]
rs62345860	1.00[EUR][1000 genomes]
rs62345871	1.00[EUR][1000 genomes]
rs62345872	1.00[EUR][1000 genomes]
rs62345873	1.00[EUR][1000 genomes]
rs62345874	1.00[EUR][1000 genomes]
rs62345875	1.00[EUR][1000 genomes]
rs62345879	1.00[EUR][1000 genomes]
rs62345881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345883	1.00[EUR][1000 genomes]
rs62345884	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345885	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345886	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62345887	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6863759	1.00[EUR][1000 genomes]
rs6891562	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv4725	chr5:14469602-14514446	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14502200-14513400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:14508400-14513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:14508400-14515400	Weak transcription	Pancreas	Pancrea
4	chr5:14508400-14516400	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:14508600-14513400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:14508800-14513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:14508800-14513400	Weak transcription	Colonic Mucosa	Colon
8	chr5:14508800-14513600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:14508800-14513600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:14508800-14513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:14508800-14513600	Weak transcription	HUVEC	blood vessel
12	chr5:14508800-14515800	Weak transcription	Hela-S3	cervix
13	chr5:14508800-14517200	Weak transcription	Aorta	Aorta
14	chr5:14508800-14520400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:14508800-14525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:14509000-14513200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:14509000-14513200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:14509000-14513400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:14509000-14513800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:14509000-14517000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:14509000-14522000	Weak transcription	Fetal Brain Female	brain
22	chr5:14509200-14513000	Weak transcription	Lung	lung
23	chr5:14509200-14523200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:14509400-14513400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:14509400-14515600	Weak transcription	Brain Germinal Matrix	brain
26	chr5:14510600-14513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:14510600-14513400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:14511000-14513000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:14511000-14513200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:14511200-14513000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:14511200-14513000	Weak transcription	NHLF	lung
32	chr5:14511200-14513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:14511200-14514200	Weak transcription	Fetal Intestine Small	intestine
34	chr5:14511200-14517200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:14511200-14518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:14511400-14513400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:14511400-14513400	Weak transcription	Fetal Stomach	stomach
38	chr5:14511400-14513600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:14511400-14522200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:14512800-14513000	Enhancers	Fetal Heart	heart
41	chr5:14512800-14513000	Enhancers	Gastric	stomach
42	chr5:14512800-14513000	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:14512800-14513000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:14512800-14513800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:14512800-14513800	Enhancers	Rectal Mucosa Donor 31	rectum

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