Variant report

Variant	rs72936489
Chromosome Location	chr2:110279146-110279147
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10173039	0.87[AFR][1000 genomes]
rs10175581	0.87[AFR][1000 genomes]
rs10181166	0.87[AFR][1000 genomes]
rs10181171	0.87[AFR][1000 genomes]
rs10183741	0.87[AFR][1000 genomes]
rs10184198	0.87[AFR][1000 genomes]
rs10207090	0.87[AFR][1000 genomes]
rs10211151	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211233	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10439549	0.87[AFR][1000 genomes]
rs10439550	0.87[AFR][1000 genomes]
rs10439551	0.87[AFR][1000 genomes]
rs10439553	0.87[AFR][1000 genomes]
rs10496431	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11265637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11884841	0.87[AFR][1000 genomes]
rs11884851	0.87[AFR][1000 genomes]
rs11888149	0.87[AFR][1000 genomes]
rs12612457	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619004	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622443	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384628	0.87[AFR][1000 genomes]
rs13384720	0.87[AFR][1000 genomes]
rs13385504	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13389084	0.87[AFR][1000 genomes]
rs13389765	0.87[AFR][1000 genomes]
rs13395490	0.92[AFR][1000 genomes]
rs13395787	0.87[AFR][1000 genomes]
rs13395871	0.87[AFR][1000 genomes]
rs13396079	0.87[AFR][1000 genomes]
rs13396884	0.87[AFR][1000 genomes]
rs13400816	0.87[AFR][1000 genomes]
rs13404670	0.87[AFR][1000 genomes]
rs28654387	0.82[AFR][1000 genomes]
rs2903696	0.86[AMR][1000 genomes]
rs3886070	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56840594	0.86[AMR][1000 genomes]
rs58059801	0.92[AFR][1000 genomes]
rs58360057	0.82[AMR][1000 genomes]
rs58602175	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58958362	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59185208	0.82[AMR][1000 genomes]
rs59314495	0.84[AFR][1000 genomes]
rs59328146	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60524887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61354480	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61398276	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61411380	0.83[AFR][1000 genomes]
rs61449947	0.82[AMR][1000 genomes]
rs717188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72936494	0.92[AFR][1000 genomes]
rs72936495	0.87[AFR][1000 genomes]
rs72938233	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72938234	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72938241	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72938253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72938256	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72938267	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72938273	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72938290	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72940203	0.82[AMR][1000 genomes]
rs72940214	0.82[AMR][1000 genomes]
rs72940230	0.82[AMR][1000 genomes]
rs72940234	0.82[AMR][1000 genomes]
rs72949195	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72949197	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72949199	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72949201	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs730988	0.82[AMR][1000 genomes]
rs9798372	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110257800-110287800	Weak transcription	Gastric	stomach
2	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
3	chr2:110271200-110280400	Weak transcription	Fetal Kidney	kidney
4	chr2:110271200-110285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:110272800-110283000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:110274000-110292800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:110275000-110279400	Weak transcription	Fetal Brain Female	brain
8	chr2:110275000-110285400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:110276000-110279200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:110277800-110280200	Weak transcription	Fetal Thymus	thymus
11	chr2:110278800-110279200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
12	chr2:110278800-110279600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:110278800-110279600	Enhancers	Stomach Mucosa	stomach
14	chr2:110278800-110279800	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:110279000-110279200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:110279000-110279200	Enhancers	Adipose Nuclei	Adipose
17	chr2:110279000-110279200	Enhancers	Esophagus	oesophagus
18	chr2:110279000-110279200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr2:110279000-110279200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr2:110279000-110279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:110279000-110279400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:110279000-110279400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:110279000-110279400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:110279000-110279600	Enhancers	Fetal Brain Male	brain
25	chr2:110279000-110279800	Enhancers	Brain Germinal Matrix	brain
26	chr2:110279000-110280000	Enhancers	Fetal Intestine Small	intestine
27	chr2:110279000-110281400	Bivalent Enhancer	HepG2	liver
28	chr2:110279000-110283000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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