Variant report

Variant	rs12867107
Chromosome Location	chr13:80380645-80380646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10507900	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11619959	0.88[EUR][1000 genomes]
rs12019641	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12428029	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1335288	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2039554	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2039555	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039556	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2152226	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2248409	0.80[EUR][1000 genomes]
rs2248413	0.87[EUR][1000 genomes]
rs2248563	0.84[EUR][1000 genomes]
rs2329137	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2329138	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2783085	0.88[EUR][1000 genomes]
rs2802634	0.83[EUR][1000 genomes]
rs2802638	0.80[EUR][1000 genomes]
rs2802640	0.88[EUR][1000 genomes]
rs2802641	0.87[EUR][1000 genomes]
rs35661635	0.88[EUR][1000 genomes]
rs4885658	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4885660	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4885669	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4885670	0.85[ASN][1000 genomes]
rs7322877	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7327527	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7984156	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530958	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9530959	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9545191	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9545203	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9545205	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900590	chr13:80342186-80421340	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80374200-80384000	Weak transcription	Fetal Heart	heart
2	chr13:80377000-80384000	Weak transcription	HUVEC	blood vessel
3	chr13:80377400-80385400	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:80377600-80381200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr13:80378000-80381400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:80378400-80381800	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:80378400-80384000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:80378400-80385800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:80378400-80386000	Weak transcription	Spleen	Spleen
10	chr13:80378400-80386400	Weak transcription	Thymus	Thymus
11	chr13:80378800-80381200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:80378800-80384200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:80379200-80384400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:80379400-80380800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:80379600-80384000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr13:80379800-80384000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:80380000-80381000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr13:80380000-80383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:80380200-80384200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:80380400-80384200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:80380600-80380800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:80380600-80380800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:80380600-80381200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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