Variant report

Variant	rs2165933
Chromosome Location	chr5:112499206-112499207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112492439..112494935-chr5:112498208..112500030,2	K562	blood:
2	chr5:112492254..112496189-chr5:112498530..112504608,6	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11955699	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13156236	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13159159	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13159631	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443685	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1443687	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4705547	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7703089	0.85[EUR][1000 genomes]
rs7719681	0.85[EUR][1000 genomes]
rs7720516	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs935162	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
2	chr5:112486800-112500400	Weak transcription	Gastric	stomach
3	chr5:112489200-112500000	Weak transcription	Liver	Liver
4	chr5:112493200-112499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:112493200-112500400	Weak transcription	Aorta	Aorta
6	chr5:112493800-112500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:112494800-112500400	Weak transcription	Lung	lung
9	chr5:112494800-112500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:112496200-112501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:112496200-112502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:112496400-112501800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:112496600-112501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:112496800-112503000	Enhancers	HMEC	breast
19	chr5:112497000-112500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112497200-112501200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:112497600-112499400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:112497600-112501600	Enhancers	Right Ventricle	heart
23	chr5:112497600-112503600	Enhancers	Ovary	ovary
24	chr5:112497800-112499800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr5:112497800-112500000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:112497800-112503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:112497800-112504400	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:112498000-112503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:112498200-112499400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112498200-112499400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:112498200-112499400	Enhancers	NHDF-Ad	bronchial
32	chr5:112498200-112500800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:112498200-112502000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:112498400-112499400	Enhancers	Adipose Nuclei	Adipose
35	chr5:112498400-112499400	Enhancers	NHLF	lung
36	chr5:112498400-112499600	Enhancers	Osteobl	bone
37	chr5:112498400-112500600	Weak transcription	Placenta	Placenta
38	chr5:112498400-112502000	Enhancers	NH-A	brain
39	chr5:112498400-112502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:112498600-112499400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:112498600-112499400	Enhancers	HSMM	muscle
42	chr5:112498600-112499400	Enhancers	HSMMtube	muscle
43	chr5:112498600-112499600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:112498600-112499800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:112498600-112499800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:112498600-112500600	Enhancers	HUVEC	blood vessel
47	chr5:112498800-112499400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr5:112498800-112499800	Weak transcription	Esophagus	oesophagus
49	chr5:112498800-112503200	Enhancers	Fetal Heart	heart
50	chr5:112499000-112499800	Weak transcription	Psoas Muscle	Psoas

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