Variant report

Variant	rs62368221
Chromosome Location	chr5:73991059-73991060
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10942718	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11556045	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12517888	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12518926	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12519436	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12521189	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13154639	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13178702	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13188271	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1566431	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16872206	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35711978	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3733791	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3756443	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3776484	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56320720	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6453073	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7710892	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv934214	chr5:73981349-73993050	Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv933165	chr5:73981599-73993050	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-73994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:73982000-74002200	Weak transcription	Fetal Brain Female	brain
3	chr5:73982000-74017400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:73982200-74020600	Weak transcription	Fetal Brain Male	brain
6	chr5:73982400-73993000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:73982400-73994600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:73982400-73998200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:73982400-73999400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:73982400-74002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:73982600-73999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:73983000-73991800	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:73983000-74001000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:73983000-74001600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:73983000-74017400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:73983000-74027000	Weak transcription	Fetal Heart	heart
17	chr5:73983200-73992800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:73983200-73992800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:73983200-73993000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:73983200-73993000	Weak transcription	GM12878-XiMat	blood
21	chr5:73983200-73994800	Weak transcription	Gastric	stomach
22	chr5:73983200-74002200	Weak transcription	Esophagus	oesophagus
23	chr5:73983200-74030200	Weak transcription	Small Intestine	intestine
24	chr5:73983400-73992800	Weak transcription	Stomach Mucosa	stomach
25	chr5:73983400-73999000	Weak transcription	Colonic Mucosa	Colon
26	chr5:73983400-73999200	Weak transcription	Psoas Muscle	Psoas
27	chr5:73983400-74016000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:73984400-74002200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:73984600-74000400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:73984600-74001000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:73984600-74001600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:73984600-74002600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr5:73984800-73995200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:73984800-73995200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:73985000-73994000	Strong transcription	Placenta	Placenta
36	chr5:73985000-74002600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:73985200-73995400	Strong transcription	Liver	Liver
38	chr5:73985200-74002600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:73987200-74017400	Weak transcription	Fetal Kidney	kidney
40	chr5:73987400-73992800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:73987400-73998200	Weak transcription	HSMM	muscle
42	chr5:73987600-73992000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:73987600-73992800	Weak transcription	A549	lung
44	chr5:73987600-73992800	Weak transcription	NHLF	lung
45	chr5:73987600-74014800	Weak transcription	Fetal Lung	lung
46	chr5:73987800-73998200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr5:73987800-73999400	Weak transcription	Hela-S3	cervix
48	chr5:73988000-73992000	Strong transcription	Fetal Stomach	stomach
49	chr5:73988000-73997000	Strong transcription	Left Ventricle	heart
50	chr5:73988200-73995800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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