Variant report

Variant	rs6886988
Chromosome Location	chr5:112475512-112475513
allele	A/G
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]
rs1443684	1.00[AFR][1000 genomes]
rs1443694	1.00[AFR][1000 genomes]
rs2416304	1.00[AFR][1000 genomes]
rs4705792	1.00[AFR][1000 genomes]
rs4705793	0.83[AFR][1000 genomes]
rs6887809	1.00[AFR][1000 genomes]
rs7712720	1.00[AFR][1000 genomes]
rs7737030	1.00[AFR][1000 genomes]
rs935165	1.00[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	chr5:112458600-112477000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112458800-112476600	Weak transcription	NHEK	skin
4	chr5:112461400-112476800	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:112461800-112476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:112462200-112475600	Weak transcription	Liver	Liver
7	chr5:112462600-112476200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:112464800-112476800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:112465200-112476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:112467400-112475800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:112467400-112476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:112467600-112476400	Weak transcription	Left Ventricle	heart
14	chr5:112467600-112476400	Weak transcription	Right Atrium	heart
15	chr5:112467800-112476800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:112468200-112476600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:112469200-112476200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:112469200-112476400	Weak transcription	Ovary	ovary
19	chr5:112469400-112477000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
21	chr5:112470600-112482000	Weak transcription	Fetal Heart	heart
22	chr5:112472400-112476600	Weak transcription	Esophagus	oesophagus
23	chr5:112474000-112475800	Weak transcription	HMEC	breast
24	chr5:112474400-112476400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:112474600-112476600	Weak transcription	Fetal Stomach	stomach
26	chr5:112474600-112476800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:112475200-112476600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:112475400-112476800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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