Variant report

Variant	rs12160605
Chromosome Location	chr22:28013068-28013069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11913376	0.92[ASN][1000 genomes]
rs12158772	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12158861	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12159548	1.00[EUR][1000 genomes];0.95[ASN][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	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv914956	chr22:27993597-28050390	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28005600-28026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:28010400-28016600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:28012200-28014200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:28012400-28013600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:28012400-28013800	Enhancers	Primary hematopoietic stem cells	blood
6	chr22:28012400-28014000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:28012400-28014200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:28012600-28013200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:28012600-28013800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr22:28012800-28013600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:28012800-28016600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:28013000-28013200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr22:28013000-28013800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr22:28013000-28016400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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