Variant report

Variant	rs1443697
Chromosome Location	chr5:112501599-112501600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112492254..112496189-chr5:112498530..112504608,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10067575	1.00[AMR][1000 genomes]
rs1345079	1.00[AMR][1000 genomes]
rs1443688	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1443698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1584057	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867326	1.00[AMR][1000 genomes]
rs1982287	1.00[AMR][1000 genomes]
rs2416308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2900068	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2900069	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4235795	1.00[AMR][1000 genomes]
rs55834943	1.00[AMR][1000 genomes]
rs56096608	1.00[AMR][1000 genomes]
rs57288647	1.00[AMR][1000 genomes]
rs6594694	1.00[AMR][1000 genomes]
rs6862997	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6892018	1.00[AMR][1000 genomes]
rs73237148	1.00[AMR][1000 genomes]
rs73239119	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239122	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239127	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73239158	1.00[AMR][1000 genomes]
rs73244726	0.81[AFR][1000 genomes]
rs73244727	1.00[AMR][1000 genomes]
rs73244751	1.00[AMR][1000 genomes]
rs73778907	1.00[AMR][1000 genomes]
rs73778912	1.00[AMR][1000 genomes]
rs73778915	1.00[AMR][1000 genomes]
rs73778917	1.00[AMR][1000 genomes]
rs73778920	1.00[AMR][1000 genomes]
rs73778923	1.00[AMR][1000 genomes]
rs73781500	1.00[AMR][1000 genomes]
rs73783203	1.00[AMR][1000 genomes]
rs935164	1.00[AMR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112496200-112501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:112496200-112502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:112496400-112501800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:112496600-112501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:112496800-112503000	Enhancers	HMEC	breast
11	chr5:112497600-112501600	Enhancers	Right Ventricle	heart
12	chr5:112497600-112503600	Enhancers	Ovary	ovary
13	chr5:112497800-112503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:112497800-112504400	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:112498000-112503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:112498200-112502000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:112498400-112502000	Enhancers	NH-A	brain
18	chr5:112498400-112502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:112498800-112503200	Enhancers	Fetal Heart	heart
20	chr5:112499000-112502400	Weak transcription	Hela-S3	cervix
21	chr5:112499200-112502400	Enhancers	NHEK	skin
22	chr5:112499400-112502000	Weak transcription	NHDF-Ad	bronchial
23	chr5:112499400-112502200	Weak transcription	HSMMtube	muscle
24	chr5:112499400-112502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:112499600-112501600	Enhancers	Right Atrium	heart
27	chr5:112499600-112502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:112499800-112502600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:112500000-112503000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:112500000-112503200	Enhancers	Liver	Liver
31	chr5:112500000-112507000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:112500200-112502200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:112500200-112503000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:112500200-112503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:112500200-112503200	Enhancers	Fetal Lung	lung
36	chr5:112500600-112501600	Enhancers	Placenta	Placenta
37	chr5:112500600-112502200	Enhancers	Osteobl	bone
38	chr5:112500600-112502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:112500600-112502400	Weak transcription	HUVEC	blood vessel
40	chr5:112500800-112501800	Weak transcription	Fetal Stomach	stomach
41	chr5:112500800-112506000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:112500800-112513800	Weak transcription	Lung	lung
43	chr5:112500800-112518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:112501000-112504000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:112501000-112504400	Weak transcription	Esophagus	oesophagus
46	chr5:112501200-112501800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:112501200-112502400	Enhancers	NHLF	lung
48	chr5:112501200-112503000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr5:112501200-112503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:112501200-112504200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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