Variant report

Variant	rs9545243
Chromosome Location	chr13:80442249-80442250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11841161	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1335280	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2152227	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4885678	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55782753	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60183121	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563141	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563144	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7320994	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7327438	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7331323	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7332904	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7337191	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7987352	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7994812	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043768	chr13:80398379-80447095	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1048990	chr13:80419496-80456454	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1044254	chr13:80419496-80457686	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80425400-80443200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80434400-80443400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:80435400-80443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:80436200-80443400	Weak transcription	Stomach Mucosa	stomach
5	chr13:80439200-80443400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:80439200-80443600	Weak transcription	Fetal Intestine Large	intestine
7	chr13:80439600-80443400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:80440000-80444800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:80441400-80443600	Weak transcription	Fetal Thymus	thymus
10	chr13:80441600-80442800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr13:80441600-80443600	Weak transcription	Thymus	Thymus
12	chr13:80442000-80443600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:80442000-80443600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:80442000-80448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:80442200-80442600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:80442200-80443200	Weak transcription	Primary T cells from cord blood	blood
17	chr13:80442200-80443400	Weak transcription	Primary hematopoietic stem cells	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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