Variant report

Variant	rs17597976
Chromosome Location	chr2:113554636-113554637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10210810	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687733	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711742	0.85[EUR][1000 genomes]
rs12989407	1.00[ASN][1000 genomes]
rs2048874	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35938455	1.00[ASN][1000 genomes]
rs41294736	1.00[ASN][1000 genomes]
rs62158651	1.00[ASN][1000 genomes]
rs6542097	0.91[CEU][hapmap];0.84[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs7368977	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567467	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7599171	0.82[AMR][1000 genomes];0.90[EUR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17597976	ACOXL	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:113548000-113554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113549400-113555200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:113552800-113560800	Weak transcription	Osteobl	bone
6	chr2:113553600-113559000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:113553600-113559000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:113553600-113561200	Weak transcription	K562	blood
9	chr2:113553600-113562800	Weak transcription	Esophagus	oesophagus
10	chr2:113553800-113556200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:113553800-113556200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:113553800-113556600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:113553800-113556600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:113553800-113557400	Weak transcription	Placenta	Placenta
15	chr2:113553800-113558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:113553800-113559200	Weak transcription	Hela-S3	cervix
17	chr2:113553800-113563000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:113554400-113555200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:113554400-113555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:113554400-113556000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:113554400-113556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:113554400-113557000	Weak transcription	HMEC	breast
23	chr2:113554400-113558800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:113554600-113557000	Weak transcription	NHEK	skin

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