Variant report

Variant	rs2500089
Chromosome Location	chr6:14784269-14784270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:14782718..14784387-chr6:14791933..14793560,2	K562	blood:
2	chr6:14783331..14786327-chr6:14787187..14789673,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1014609	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1014610	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472804	0.91[ASN][1000 genomes]
rs2472805	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472807	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2472812	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472813	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472814	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2472815	0.86[ASN][1000 genomes]
rs2500080	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2500081	1.00[ASN][1000 genomes]
rs2500083	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500084	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500088	1.00[ASN][1000 genomes]
rs2500090	0.86[ASN][1000 genomes]
rs2500091	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2500092	0.83[ASN][1000 genomes]
rs9396532	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396533	0.94[EUR][1000 genomes];1.00[ASN][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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14768000-14785200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:14775600-14790000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:14779000-14784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:14779000-14784600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:14779200-14785000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:14782600-14784400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:14782600-14784600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:14782600-14784600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:14782800-14784400	Weak transcription	Thymus	Thymus
10	chr6:14782800-14784600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:14782800-14784600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:14783000-14784400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:14783000-14784600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:14783000-14784600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:14783000-14784600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:14783400-14784400	ZNF genes & repeats	Fetal Thymus	thymus
17	chr6:14783800-14785200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:14783800-14786000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:14783800-14788400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:14784200-14784400	Enhancers	Placenta	Placenta
21	chr6:14784200-14784600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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