Variant report

Variant	rs1443689
Chromosome Location	chr5:112466903-112466904
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10037489	0.82[ASN][1000 genomes]
rs10040328	0.82[ASN][1000 genomes]
rs10519336	0.80[ASN][1000 genomes]
rs13186032	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1443693	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2165929	0.84[ASN][1000 genomes]
rs2900067	0.84[ASN][1000 genomes]
rs4078252	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6594686	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594687	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859611	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7702177	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112456600-112467200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112458800-112476600	Weak transcription	NHEK	skin
7	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
8	chr5:112460800-112467400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:112461200-112469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112461400-112468400	Weak transcription	Ovary	ovary
11	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:112462000-112467400	Weak transcription	Adipose Nuclei	Adipose
14	chr5:112462200-112475600	Weak transcription	Liver	Liver
15	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr5:112464600-112468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:112464800-112467200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:112464800-112468200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:112464800-112470000	Weak transcription	Fetal Brain Female	brain
20	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:112465000-112467200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:112466000-112467400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112466200-112467600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112466200-112467600	Enhancers	Left Ventricle	heart
26	chr5:112466200-112467800	Enhancers	Psoas Muscle	Psoas
27	chr5:112466400-112467400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:112466600-112467600	Enhancers	Right Atrium	heart
29	chr5:112466600-112467600	Enhancers	Right Ventricle	heart
30	chr5:112466600-112468600	Enhancers	Fetal Heart	heart
31	chr5:112466800-112467400	Enhancers	Fetal Brain Male	brain

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