Variant report

Variant	rs11749995
Chromosome Location	chr5:112468080-112468081
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12187718	0.80[AFR][1000 genomes]
rs13170088	0.89[AFR][1000 genomes]
rs13183472	0.80[AFR][1000 genomes]
rs13190424	0.80[AFR][1000 genomes]
rs3922585	0.87[AFR][1000 genomes]
rs4705546	0.89[AFR][1000 genomes]
rs4705782	0.89[AFR][1000 genomes]
rs6883605	0.89[AFR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112451000-112478800	Weak transcription	Aorta	Aorta
2	chr5:112458400-112474200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:112458600-112474000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112458800-112476600	Weak transcription	NHEK	skin
6	chr5:112459400-112468400	Weak transcription	NHDF-Ad	bronchial
7	chr5:112461200-112469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112461400-112468400	Weak transcription	Ovary	ovary
9	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:112462200-112475600	Weak transcription	Liver	Liver
12	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:112464600-112468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:112464800-112468200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:112464800-112470000	Weak transcription	Fetal Brain Female	brain
16	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:112466600-112468600	Enhancers	Fetal Heart	heart
19	chr5:112467400-112468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:112467400-112468600	Weak transcription	Fetal Brain Male	brain
21	chr5:112467400-112475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:112467400-112476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:112467600-112468200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:112467600-112468200	Weak transcription	Adipose Nuclei	Adipose
26	chr5:112467600-112476400	Weak transcription	Left Ventricle	heart
27	chr5:112467600-112476400	Weak transcription	Right Atrium	heart
28	chr5:112467800-112468400	Weak transcription	Psoas Muscle	Psoas
29	chr5:112467800-112476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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