Variant report

Variant	rs73781720
Chromosome Location	chr5:112897762-112897763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10035297	0.95[AMR][1000 genomes]
rs10042141	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10075927	0.81[ASN][1000 genomes]
rs10155616	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10440762	0.81[ASN][1000 genomes]
rs11950116	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11950577	0.89[AMR][1000 genomes]
rs36009332	0.95[AMR][1000 genomes]
rs36015377	0.95[AMR][1000 genomes]
rs4345310	0.95[AMR][1000 genomes]
rs56090613	0.89[AMR][1000 genomes]
rs6866028	0.89[AMR][1000 genomes]
rs7719254	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882720	chr5:112859994-112911165	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv882722	chr5:112868878-112899573	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882723	chr5:112868878-112911165	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv3427742	chr5:112897673-112898094	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 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	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
5	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
6	chr5:112867200-112904000	Weak transcription	Lung	lung
7	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
8	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
11	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
12	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
18	chr5:112873000-112900600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
21	chr5:112874400-112902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:112877200-112905800	Weak transcription	Fetal Stomach	stomach
24	chr5:112879600-112902800	Weak transcription	Thymus	Thymus
25	chr5:112879600-112904200	Weak transcription	Gastric	stomach
26	chr5:112881800-112906400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:112882600-112904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:112883000-112899600	Weak transcription	Brain Angular Gyrus	brain
30	chr5:112883000-112903200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:112883800-112907400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:112884200-112905200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:112884200-112905600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:112884200-112908000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:112885400-112897800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:112886000-112902400	Weak transcription	NHLF	lung
37	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:112887800-112904400	Strong transcription	Fetal Intestine Large	intestine
39	chr5:112888000-112908200	Strong transcription	Liver	Liver
40	chr5:112888600-112898000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:112888600-112901400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:112888800-112908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:112889600-112898200	Weak transcription	HepG2	liver
45	chr5:112889600-112904000	Weak transcription	Fetal Heart	heart
46	chr5:112889800-112898000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:112889800-112909600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:112889800-112910000	Weak transcription	HSMMtube	muscle
49	chr5:112890000-112898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:112890400-112898000	Weak transcription	Brain Substantia Nigra	brain

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