Variant report

Variant	rs12430621
Chromosome Location	chr13:38311000-38311001
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11147667	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11147668	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11147670	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11618049	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11620255	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12853617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12854825	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12858218	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12861121	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12865577	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867999	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12868646	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12869304	0.85[AMR][1000 genomes]
rs12875518	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12875577	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12876565	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333358	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1556541	0.81[AFR][1000 genomes]
rs1577005	0.81[AFR][1000 genomes]
rs1577007	0.81[AFR][1000 genomes]
rs17262400	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924301	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2025402	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2025403	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2184124	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35989386	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4365182	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61955520	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61955521	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7997030	0.81[AFR][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	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38305200-38315400	Weak transcription	NHDF-Ad	bronchial
2	chr13:38307600-38330800	Weak transcription	Ovary	ovary
3	chr13:38308000-38311000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:38308200-38328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:38308400-38311000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:38308400-38311200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:38309200-38316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:38309200-38320600	Weak transcription	NHLF	lung
9	chr13:38309600-38321000	Weak transcription	Osteobl	bone
10	chr13:38310400-38314600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:38310600-38311000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:38310800-38314600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:38310800-38318400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr13:38311000-38314600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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