Variant report

Variant	rs2567973
Chromosome Location	chr2:55031166-55031167
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	chr2:55030699..55032489-chr2:55035995..55037701,2	K562	blood:
2	chr2:55030989..55033813-chr2:55035805..55037701,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11885773	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13029124	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2163597	0.82[ASN][1000 genomes]
rs2567843	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2567844	0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2567845	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2567969	0.97[EUR][1000 genomes]
rs2567970	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2567971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2567974	0.90[ASN][1000 genomes]
rs2578712	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2578713	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2578714	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2631837	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2631840	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2631841	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2631845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2915636	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs354946	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs354947	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs354948	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs354949	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv470465	chr2:55010115-55034113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv874152	chr2:55023600-55060479	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55022200-55031200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:55030000-55032000	Enhancers	Brain Germinal Matrix	brain
3	chr2:55030200-55031800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:55030200-55031800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:55030400-55031600	Enhancers	Fetal Brain Female	brain
6	chr2:55030400-55032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:55030800-55031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:55031000-55031400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:55031000-55031600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:55031000-55032000	Enhancers	NHDF-Ad	bronchial

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