Variant report

Variant	rs12513533
Chromosome Location	chr5:107425580-107425581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10043959	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10044509	0.82[AMR][1000 genomes]
rs10067069	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10068595	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10070441	0.81[AMR][1000 genomes]
rs10071475	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10076369	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10079990	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1024975	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10434798	0.84[ASN][1000 genomes]
rs10434799	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10464046	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10479422	0.88[ASN][1000 genomes]
rs10479423	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1108067	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11242659	0.88[EUR][1000 genomes]
rs11742139	0.83[ASN][1000 genomes]
rs11743938	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11747222	0.82[AMR][1000 genomes]
rs11951176	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12189008	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12332109	0.83[ASN][1000 genomes]
rs13161819	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13173786	0.85[ASN][1000 genomes]
rs17165769	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2416523	0.87[EUR][1000 genomes]
rs34841609	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4957735	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4957740	0.88[ASN][1000 genomes]
rs4957741	0.82[AMR][1000 genomes]
rs6868799	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6871109	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6897064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7707085	0.84[ASN][1000 genomes]
rs7729356	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107403800-107429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:107414800-107427800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:107416000-107443600	Weak transcription	Primary T cells from cord blood	blood
5	chr5:107416800-107427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:107419200-107436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:107420000-107433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:107420200-107426600	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:107420200-107426800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:107420200-107427800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:107421000-107426800	Weak transcription	Fetal Lung	lung
12	chr5:107421200-107426000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:107421400-107426200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:107421400-107426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:107421400-107437000	Weak transcription	Psoas Muscle	Psoas
16	chr5:107421600-107425600	Weak transcription	Left Ventricle	heart
17	chr5:107423000-107426600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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