Variant report

Variant	rs17507490
Chromosome Location	chr1:113983922-113983923
allele	C/T
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:14)

rs_ID	r²[population]
rs10157946	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10776770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10857997	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857998	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12118048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12402614	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1936930	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2359417	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6661923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694861	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7522365	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7523404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7543189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7552954	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113966800-113986600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:113970000-113986600	Weak transcription	Esophagus	oesophagus
4	chr1:113981000-113986600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:113981000-113986600	Weak transcription	Aorta	Aorta
6	chr1:113981200-113986800	Weak transcription	Psoas Muscle	Psoas
7	chr1:113981400-113986600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:113981400-113986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:113981800-113986800	Weak transcription	Pancreas	Pancrea
10	chr1:113982200-113986600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:113982200-113987400	Weak transcription	Fetal Intestine Large	intestine
12	chr1:113983200-113984000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:113983400-113984000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:113983400-113985000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:113983600-113985000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:113983800-113984000	Enhancers	Gastric	stomach
17	chr1:113983800-113985000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:113983800-113985000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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