Variant report

Variant	rs73242809
Chromosome Location	chr5:112898437-112898438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10039853	0.81[EUR][1000 genomes]
rs10061552	0.83[EUR][1000 genomes]
rs10071816	0.83[EUR][1000 genomes]
rs10079758	0.83[EUR][1000 genomes]
rs10079895	0.83[EUR][1000 genomes]
rs10079973	0.86[EUR][1000 genomes]
rs10080096	0.81[EUR][1000 genomes]
rs10477497	0.83[EUR][1000 genomes]
rs10477498	0.81[EUR][1000 genomes]
rs10478127	0.83[EUR][1000 genomes]
rs11241214	0.83[EUR][1000 genomes]
rs11747924	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11748145	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11748794	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11749931	0.81[EUR][1000 genomes]
rs11956399	0.83[EUR][1000 genomes]
rs12186798	0.81[EUR][1000 genomes]
rs12519323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652172	0.84[EUR][1000 genomes]
rs12654189	0.81[EUR][1000 genomes]
rs12660001	0.83[EUR][1000 genomes]
rs17135753	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17135754	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1833678	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2042222	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162842	0.83[EUR][1000 genomes]
rs2416281	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28558374	0.83[EUR][1000 genomes]
rs34514665	0.81[EUR][1000 genomes]
rs34864074	0.81[EUR][1000 genomes]
rs35162738	0.81[EUR][1000 genomes]
rs3763140	0.83[EUR][1000 genomes]
rs3846722	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3936061	0.81[EUR][1000 genomes]
rs4122546	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4334877	0.81[EUR][1000 genomes]
rs4705551	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705553	0.81[EUR][1000 genomes]
rs4705558	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4705826	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57077871	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58044020	0.83[EUR][1000 genomes]
rs60871281	0.82[EUR][1000 genomes]
rs6594734	0.83[EUR][1000 genomes]
rs6594737	0.81[AMR][1000 genomes]
rs66490974	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66497221	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67020702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67103739	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67723806	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6859688	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6861786	0.81[EUR][1000 genomes]
rs6864369	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6877432	0.82[EUR][1000 genomes]
rs6878001	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6882900	0.81[EUR][1000 genomes]
rs6883441	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6884704	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6886628	0.83[EUR][1000 genomes]
rs6889501	0.83[EUR][1000 genomes]
rs6889574	0.83[EUR][1000 genomes]
rs6896469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6896501	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72794121	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72805422	0.83[EUR][1000 genomes]
rs73241779	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73247445	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7349799	0.83[EUR][1000 genomes]
rs7702833	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706215	0.83[EUR][1000 genomes]
rs7706958	0.81[EUR][1000 genomes]
rs7707443	0.85[EUR][1000 genomes]
rs7711211	0.82[EUR][1000 genomes]
rs7711367	0.83[EUR][1000 genomes]
rs7729433	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7737023	0.83[EUR][1000 genomes]
rs9326893	0.83[EUR][1000 genomes]
rs957777	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:125 , 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	chr5:112886000-112902400	Weak transcription	NHLF	lung
36	chr5:112886600-112911200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:112887800-112904400	Strong transcription	Fetal Intestine Large	intestine
38	chr5:112888000-112908200	Strong transcription	Liver	Liver
39	chr5:112888600-112901400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:112888800-112908400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:112889600-112904000	Weak transcription	Fetal Heart	heart
43	chr5:112889800-112909600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr5:112889800-112910000	Weak transcription	HSMMtube	muscle
45	chr5:112890400-112902400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr5:112890600-112915800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr5:112891600-112906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:112891600-112908200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:112891600-112912600	Weak transcription	Stomach Mucosa	stomach
50	chr5:112891800-112898600	Weak transcription	NHDF-Ad	bronchial

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