Variant report

Variant	rs2900069
Chromosome Location	chr5:112500109-112500110
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: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

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]
rs1443697	1.00[YRI][hapmap];1.00[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]
rs4235795	1.00[AMR][1000 genomes]
rs55834943	1.00[AMR][1000 genomes]
rs56096608	1.00[AMR][1000 genomes]
rs57288647	1.00[AMR][1000 genomes]
rs60422435	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: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	chr5:112493200-112500400	Weak transcription	Aorta	Aorta
4	chr5:112493800-112500400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:112493800-112504600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:112494800-112500400	Weak transcription	Lung	lung
7	chr5:112494800-112500600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:112495800-112506400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:112496000-112502400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:112496000-112506000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112496200-112501800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:112496200-112502200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:112496400-112501800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:112496400-112502400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:112496600-112501600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:112496800-112503000	Enhancers	HMEC	breast
17	chr5:112497000-112500200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:112497200-112501200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:112497600-112501600	Enhancers	Right Ventricle	heart
20	chr5:112497600-112503600	Enhancers	Ovary	ovary
21	chr5:112497800-112503800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:112497800-112504400	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:112498000-112503600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:112498200-112500800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:112498200-112502000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:112498400-112500600	Weak transcription	Placenta	Placenta
27	chr5:112498400-112502000	Enhancers	NH-A	brain
28	chr5:112498400-112502400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:112498600-112500600	Enhancers	HUVEC	blood vessel
30	chr5:112498800-112503200	Enhancers	Fetal Heart	heart
31	chr5:112499000-112500200	Weak transcription	Stomach Mucosa	stomach
32	chr5:112499000-112500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:112499000-112502400	Weak transcription	Hela-S3	cervix
34	chr5:112499200-112502400	Enhancers	NHEK	skin
35	chr5:112499400-112500600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:112499400-112500600	Weak transcription	NHLF	lung
37	chr5:112499400-112501200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:112499400-112501200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:112499400-112501200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112499400-112501400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:112499400-112502000	Weak transcription	NHDF-Ad	bronchial
42	chr5:112499400-112502200	Weak transcription	HSMMtube	muscle
43	chr5:112499400-112502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:112499400-112506400	Weak transcription	Adipose Nuclei	Adipose
45	chr5:112499600-112500600	Weak transcription	Osteobl	bone
46	chr5:112499600-112501400	Enhancers	Left Ventricle	heart
47	chr5:112499600-112501600	Enhancers	Right Atrium	heart
48	chr5:112499600-112502600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:112499800-112500200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:112499800-112500200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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