Variant report

Variant	rs59085117
Chromosome Location	chr5:118627875-118627876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118610566..118612604-chr5:118626504..118628102,2	MCF-7	breast:
2	chr5:118622239..118624892-chr5:118626281..118628350,2	MCF-7	breast:
3	chr5:118626131..118628093-chr5:118660275..118663630,3	K562	blood:
4	chr5:118626131..118628093-chr5:118660275..118662389,2	K562	blood:
5	chr5:118623266..118625582-chr5:118625738..118628697,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10519579	0.95[EUR][1000 genomes]
rs13153732	0.95[EUR][1000 genomes]
rs13164306	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171443	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172873	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172935	0.95[EUR][1000 genomes]
rs13189229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1394630	0.95[EUR][1000 genomes]
rs1465396	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145124	0.95[EUR][1000 genomes]
rs17145129	0.95[EUR][1000 genomes]
rs17145142	0.95[EUR][1000 genomes]
rs2012594	0.95[EUR][1000 genomes]
rs34016408	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34207529	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34692285	0.95[EUR][1000 genomes]
rs34902535	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35067404	0.95[EUR][1000 genomes]
rs35113297	0.95[EUR][1000 genomes]
rs35263427	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35605034	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35623432	0.85[EUR][1000 genomes]
rs35834554	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35956442	0.95[EUR][1000 genomes]
rs35981322	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810506	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56840858	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57001486	0.90[EUR][1000 genomes]
rs58196366	0.95[EUR][1000 genomes]
rs60474651	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61366292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61643326	0.95[EUR][1000 genomes]
rs6595180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66540474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136651	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874081	0.95[EUR][1000 genomes]
rs6897744	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71585210	0.89[EUR][1000 genomes]
rs73252330	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73791001	1.00[ASN][1000 genomes]
rs7705109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999275	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr5:118619800-118629600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:118620000-118629400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:118622200-118628200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:118622400-118628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118622400-118628000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:118623800-118628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:118624000-118628200	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:118624800-118628000	Enhancers	Placenta	Placenta
11	chr5:118625000-118628000	Enhancers	Fetal Heart	heart
12	chr5:118625000-118629600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:118625400-118628000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:118625400-118629000	Weak transcription	HMEC	breast
15	chr5:118625400-118637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:118625600-118628000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:118625800-118628000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:118626000-118628000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:118626200-118628000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:118626200-118628000	Genic enhancers	Fetal Thymus	thymus
21	chr5:118626200-118629600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:118626400-118628000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr5:118626400-118628200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:118626400-118629000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:118626400-118629200	Enhancers	K562	blood
26	chr5:118626600-118628200	Enhancers	Primary B cells from cord blood	blood
27	chr5:118626600-118628200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:118626600-118628200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr5:118626600-118628200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:118626600-118629200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr5:118626800-118628000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:118627200-118628000	Active TSS	Aorta	Aorta
33	chr5:118627400-118628000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:118627400-118628000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:118627400-118628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:118627400-118629400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:118627400-118629600	Enhancers	Primary T cells from cord blood	blood
38	chr5:118627400-118635600	Weak transcription	A549	lung
39	chr5:118627600-118628000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:118627600-118628000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:118627600-118628000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:118627600-118628000	Enhancers	Fetal Muscle Leg	muscle
43	chr5:118627600-118628000	Enhancers	Left Ventricle	heart
44	chr5:118627600-118628000	Enhancers	Pancreas	Pancrea
45	chr5:118627600-118628400	ZNF genes & repeats	Dnd41	blood
46	chr5:118627600-118635800	Weak transcription	Thymus	Thymus
47	chr5:118627800-118628000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr5:118627800-118628000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:118627800-118628000	Enhancers	Adipose Nuclei	Adipose
50	chr5:118627800-118628000	Enhancers	Esophagus	oesophagus

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