Variant report

Variant	rs480029
Chromosome Location	chr22:27726026-27726027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12158540	1.00[ASN][1000 genomes]
rs12159314	1.00[ASN][1000 genomes]
rs16984270	1.00[ASN][1000 genomes]
rs16984280	1.00[ASN][1000 genomes]
rs16984284	1.00[ASN][1000 genomes]
rs28546189	1.00[ASN][1000 genomes]
rs566827	1.00[ASN][1000 genomes]
rs577795	1.00[ASN][1000 genomes]
rs73153970	1.00[ASN][1000 genomes]
rs742054	1.00[ASN][1000 genomes]
rs9613417	1.00[ASN][1000 genomes]
rs9613427	1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27715200-27727400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:27722000-27727600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:27724600-27729000	Enhancers	Fetal Brain Male	brain
4	chr22:27724800-27726400	Enhancers	Fetal Brain Female	brain
5	chr22:27725000-27726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr22:27725000-27726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:27725600-27726200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27725600-27726200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr22:27725800-27727600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:27725800-27727600	Weak transcription	Ovary	ovary
11	chr22:27725800-27727800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:27726000-27726200	Enhancers	Brain Germinal Matrix	brain
13	chr22:27726000-27727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr22:27726000-27727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:27726000-27727600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:27726000-27727600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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