Variant report

Variant	rs1945504
Chromosome Location	chr13:39460823-39460824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12586068	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1333511	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1894102	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1894104	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1945512	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7324658	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9532296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9548518	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9548519	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9603459	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9603460	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9603461	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9603463	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1008	chr13:39458830-39468613	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39430600-39462400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
3	chr13:39447000-39462400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:39447000-39462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:39451400-39468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:39455000-39462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:39456400-39465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:39458400-39461800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:39458400-39462200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:39458400-39462200	Weak transcription	Gastric	stomach
11	chr13:39458400-39462400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr13:39458400-39462400	Weak transcription	NH-A	brain
13	chr13:39458400-39466200	Weak transcription	Fetal Kidney	kidney
14	chr13:39458400-39469200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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