Variant report

Variant	rs59068551
Chromosome Location	chr5:14737058-14737059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14736385..14739053-chr5:14760107..14762182,2	MCF-7	breast:
2	chr5:14736697..14739348-chr5:14739684..14742624,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10036729	0.83[EUR][1000 genomes]
rs10052744	0.83[EUR][1000 genomes]
rs10080009	0.84[EUR][1000 genomes]
rs152932	0.84[EUR][1000 genomes]
rs153921	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs153922	0.84[EUR][1000 genomes]
rs153923	0.83[EUR][1000 genomes]
rs153924	0.84[EUR][1000 genomes]
rs153925	0.83[EUR][1000 genomes]
rs153926	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1697126	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17250963	0.83[EUR][1000 genomes]
rs187483	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697565	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs697572	0.83[EUR][1000 genomes]
rs72732799	0.96[EUR][1000 genomes]
rs72732801	0.96[EUR][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	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14714200-14740800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:14715000-14744200	Weak transcription	GM12878-XiMat	blood
3	chr5:14715200-14737400	Weak transcription	Spleen	Spleen
4	chr5:14721400-14739000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:14721400-14741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:14721600-14737800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:14721600-14738200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:14725200-14740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:14725400-14758600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:14725800-14745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:14726800-14739000	Weak transcription	HMEC	breast
12	chr5:14726800-14739600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:14726800-14739600	Weak transcription	NHEK	skin
14	chr5:14727000-14745600	Weak transcription	Placenta	Placenta
15	chr5:14727200-14742600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:14727200-14748000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:14727200-14757000	Weak transcription	NHLF	lung
18	chr5:14727800-14739600	Weak transcription	NH-A	brain
19	chr5:14728000-14740600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:14728000-14743600	Weak transcription	HSMMtube	muscle
21	chr5:14728000-14745000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:14728200-14739400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:14728200-14739600	Weak transcription	NHDF-Ad	bronchial
24	chr5:14728400-14739400	Strong transcription	Osteobl	bone
25	chr5:14728800-14737200	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:14728800-14738000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:14728800-14745600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr5:14729200-14737400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:14729200-14740200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14729200-14740200	Weak transcription	Esophagus	oesophagus
31	chr5:14729200-14740200	Weak transcription	Gastric	stomach
32	chr5:14729200-14742200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
34	chr5:14729400-14739400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:14729600-14738800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:14729600-14752600	Strong transcription	Fetal Intestine Large	intestine
37	chr5:14729800-14749400	Strong transcription	Fetal Intestine Small	intestine
38	chr5:14730000-14740200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:14730000-14758400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr5:14730200-14739800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:14730200-14740000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr5:14730200-14740800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:14730400-14741800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:14730600-14738600	Enhancers	Fetal Thymus	thymus
45	chr5:14730800-14740200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:14731400-14737800	Weak transcription	Ovary	ovary
47	chr5:14731600-14740200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:14732000-14738600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:14732200-14742600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr5:14733000-14738600	Weak transcription	Fetal Brain Female	brain

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