Variant report

Variant	rs1443694
Chromosome Location	chr5:112514876-112514877
allele	G/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]
rs1443684	1.00[AFR][1000 genomes]
rs2416304	1.00[AFR][1000 genomes]
rs4705792	1.00[AFR][1000 genomes]
rs4705793	0.83[AFR][1000 genomes]
rs6886988	1.00[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
3	chr5:112505800-112521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:112506200-112518200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:112506400-112521600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112512000-112515600	Enhancers	Liver	Liver
8	chr5:112512000-112515800	Enhancers	Left Ventricle	heart
9	chr5:112512000-112516200	Enhancers	Right Ventricle	heart
10	chr5:112512200-112515800	Enhancers	Psoas Muscle	Psoas
11	chr5:112512600-112521400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:112512800-112518400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112513000-112521400	Weak transcription	NHEK	skin
14	chr5:112513600-112515200	Enhancers	Fetal Lung	lung
15	chr5:112513600-112515200	Enhancers	HSMMtube	muscle
16	chr5:112513600-112515400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:112513600-112515600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:112513600-112515600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:112513600-112515600	Enhancers	Ovary	ovary
20	chr5:112513600-112516000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:112513600-112516000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:112513800-112515000	Enhancers	Adipose Nuclei	Adipose
23	chr5:112513800-112515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:112513800-112515200	Enhancers	Fetal Muscle Leg	muscle
25	chr5:112513800-112515600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:112513800-112515800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:112513800-112515800	Enhancers	Colon Smooth Muscle	Colon
28	chr5:112513800-112515800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:112513800-112515800	Enhancers	Rectal Smooth Muscle	rectum
30	chr5:112513800-112516000	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:112513800-112517000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:112514000-112515600	Enhancers	NHDF-Ad	bronchial
33	chr5:112514000-112515800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:112514000-112515800	Enhancers	Fetal Stomach	stomach
35	chr5:112514200-112515000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:112514200-112515000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:112514200-112515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:112514200-112515400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:112514200-112515600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr5:112514200-112518600	Weak transcription	Right Atrium	heart
41	chr5:112514400-112515000	Flanking Active TSS	Fetal Heart	heart
42	chr5:112514400-112515800	Enhancers	Fetal Kidney	kidney
43	chr5:112514400-112516200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr5:112514600-112515600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr5:112514800-112515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:112514800-112515200	Enhancers	Lung	lung
48	chr5:112514800-112515600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:112514800-112515800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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