Variant report

Variant	rs2472809
Chromosome Location	chr6:14782089-14782090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:14776558..14780459-chr6:14780811..14783861,5	K562	blood:
2	chr6:14780975..14782826-chr6:15244108..15247018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction
ENSG00000271888	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2472806	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2472808	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2472811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2500081	0.82[AMR][1000 genomes]
rs2500085	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2500087	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:22 , 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	chr6:14772800-14783800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:14775600-14790000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:14778800-14782200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:14778800-14782400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:14778800-14783800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:14779000-14782200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:14779000-14783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:14779000-14784600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:14779000-14784600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:14779200-14782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:14779200-14785000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:14779400-14782200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:14780000-14782800	Enhancers	K562	blood
15	chr6:14781200-14782800	Enhancers	Thymus	Thymus
16	chr6:14781600-14783000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr6:14781800-14782400	Flanking Active TSS	Fetal Thymus	thymus
18	chr6:14781800-14782600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:14781800-14783000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:14781800-14783000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr6:14782000-14782200	Enhancers	Placenta	Placenta
22	chr6:14782000-14782800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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