Variant report

Variant	rs4075134
Chromosome Location	chr13:85228169-85228170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1374411	0.81[AMR][1000 genomes]
rs1374412	0.81[AMR][1000 genomes]
rs1867900	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1867901	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2100084	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3099513	0.84[AMR][1000 genomes]
rs4605042	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4885929	0.93[AFR][1000 genomes]
rs55875665	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67116577	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67564213	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67648125	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67944185	0.96[AFR][1000 genomes]
rs72629431	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72629434	0.99[EUR][1000 genomes]
rs7322072	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7322166	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949402	chr13:84675752-85606846	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv456046	chr13:84971270-85262508	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv562561	chr13:84971270-85262508	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900691	chr13:85206473-85294881	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1851778	chr13:85206473-85299207	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv900692	chr13:85218788-85294881	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv900693	chr13:85226116-85291768	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv900694	chr13:85226116-85344527	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	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	chr13:85219800-85229800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:85220400-85228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr13:85223600-85228600	Enhancers	Fetal Heart	heart
4	chr13:85223600-85229400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:85225200-85228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:85225200-85229800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:85225600-85232800	Weak transcription	Osteobl	bone
8	chr13:85226000-85233400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:85227400-85229000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr13:85227800-85228200	Weak transcription	Right Ventricle	heart
11	chr13:85227800-85229200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:85227800-85229600	Enhancers	Primary hematopoietic stem cells	blood
13	chr13:85228000-85228600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:85228000-85228800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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

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