Variant report

Variant	rs2165154
Chromosome Location	chr5:124612758-124612759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10463490	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521045	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530450	0.85[EUR][1000 genomes]
rs1562125	0.93[ASN][1000 genomes]
rs1595712	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17152509	0.85[EUR][1000 genomes]
rs17152529	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs719829	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs732776	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124599800-124613400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:124608400-124612800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:124609000-124614800	Enhancers	HUVEC	blood vessel
4	chr5:124609200-124612800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:124609200-124613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:124609600-124613400	Weak transcription	Stomach Mucosa	stomach
7	chr5:124609600-124614200	Enhancers	Hela-S3	cervix
8	chr5:124610000-124612800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:124610000-124613000	Enhancers	Fetal Heart	heart
10	chr5:124610200-124613200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:124611200-124613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:124611400-124612800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:124611400-124613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:124611400-124613000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:124611400-124613200	Weak transcription	Osteobl	bone
16	chr5:124611600-124612800	Weak transcription	HSMM	muscle
17	chr5:124611600-124617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:124611600-124617200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:124611800-124617200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:124612200-124614200	Enhancers	A549	lung
21	chr5:124612400-124614200	Enhancers	HMEC	breast
22	chr5:124612400-124614400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:124612600-124612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:124612600-124613200	Flanking Active TSS	HSMMtube	muscle
25	chr5:124612600-124614000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:124612600-124614000	Enhancers	NHEK	skin
27	chr5:124612600-124614200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:124612600-124614400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:124612600-124614400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:124612600-124614800	Enhancers	NH-A	brain

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