Variant report

Variant	rs28360598
Chromosome Location	chr6:13002131-13002132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13000472..13003227-chr6:13006605..13008195,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11756003	0.82[AMR][1000 genomes]
rs11759412	0.85[EUR][1000 genomes]
rs34175679	0.82[AMR][1000 genomes]
rs35241555	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35684248	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35713382	0.92[EUR][1000 genomes]
rs4129937	0.85[EUR][1000 genomes]
rs4131857	0.86[ASN][1000 genomes]
rs4132045	0.84[EUR][1000 genomes]
rs4236098	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4331981	0.83[EUR][1000 genomes]
rs4711897	0.86[EUR][1000 genomes]
rs4715045	0.90[EUR][1000 genomes]
rs62386820	0.82[AMR][1000 genomes]
rs62386821	0.88[AMR][1000 genomes]
rs6936052	0.86[ASN][1000 genomes]
rs7775901	0.86[ASN][1000 genomes]
rs9349439	0.85[EUR][1000 genomes]
rs9367308	0.82[EUR][1000 genomes]
rs9381635	0.85[EUR][1000 genomes]
rs9395336	0.85[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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv981047	chr6:13000303-13002675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
3	chr6:12995600-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:12997400-13011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:13000200-13004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:13000400-13004600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:13000600-13002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:13001600-13002400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:13001600-13003200	Enhancers	Fetal Heart	heart
10	chr6:13001800-13002400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:13001800-13002600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:13001800-13003200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:13002000-13002400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:13002000-13002400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:13002000-13003000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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