Variant report

Variant	rs28378852
Chromosome Location	chr13:94994277-94994278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12584548	0.82[EUR][1000 genomes]
rs17175259	0.92[ASN][1000 genomes]
rs17196161	0.92[ASN][1000 genomes]
rs17253836	0.98[ASN][1000 genomes]
rs17253857	0.85[EUR][1000 genomes]
rs58627646	0.85[AFR][1000 genomes]
rs60277420	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73551890	0.81[EUR][1000 genomes]
rs74103904	0.88[ASN][1000 genomes]
rs7981682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982883	0.85[AFR][1000 genomes]
rs7986556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516394	0.96[ASN][1000 genomes]
rs9516395	0.96[ASN][1000 genomes]
rs9516396	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9516398	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9516402	0.82[EUR][1000 genomes]
rs9516404	0.85[EUR][1000 genomes]
rs9524440	0.92[ASN][1000 genomes]
rs9524442	0.96[ASN][1000 genomes]
rs9524444	0.98[ASN][1000 genomes]
rs9524447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9524448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524463	0.85[EUR][1000 genomes]
rs9589972	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv456077	chr13:94993032-95051560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv562755	chr13:94993032-95051560	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94979800-94996800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:94980400-95000600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94981800-94996600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:94983000-94996200	Weak transcription	HepG2	liver
5	chr13:94983200-94994800	Weak transcription	HSMMtube	muscle
6	chr13:94983200-94995200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:94984200-94995200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:94988200-94998000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:94988400-94994800	Weak transcription	Liver	Liver
10	chr13:94988600-94994800	Weak transcription	HSMM	muscle
11	chr13:94989600-94994600	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:94990000-95003600	Weak transcription	Fetal Intestine Small	intestine
13	chr13:94990400-94996800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:94991400-94994600	Weak transcription	NH-A	brain
15	chr13:94991400-94996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:94991600-94995000	Weak transcription	Placenta	Placenta
17	chr13:94991800-94994600	Weak transcription	Ovary	ovary
18	chr13:94994200-94998400	Enhancers	Fetal Stomach	stomach

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