Variant report

Variant	rs17507414
Chromosome Location	chr1:113978570-113978571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10458457	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11803682	1.00[ASN][1000 genomes]
rs1936929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359416	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839321	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839322	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5023142	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817538	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61819365	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537789	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518586	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529062	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:15 , 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	chr1:113972600-113980600	Weak transcription	Psoas Muscle	Psoas
5	chr1:113974000-113980600	Weak transcription	Pancreas	Pancrea
6	chr1:113975800-113978600	Enhancers	Liver	Liver
7	chr1:113975800-113979200	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:113976200-113980600	Weak transcription	Stomach Mucosa	stomach
9	chr1:113976200-113981200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:113976600-113978600	Flanking Active TSS	A549	lung
11	chr1:113976800-113981200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:113977000-113980800	Weak transcription	Small Intestine	intestine
13	chr1:113977400-113980800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:113977800-113980800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:113978400-113980600	Weak transcription	HepG2	liver

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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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