Variant report

Variant	rs483136
Chromosome Location	chr22:27725636-27725637
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs526404	1.00[AMR][1000 genomes]
rs527223	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs530083	1.00[AMR][1000 genomes]
rs541153	1.00[AMR][1000 genomes]
rs545268	1.00[AMR][1000 genomes]
rs553032	1.00[AMR][1000 genomes]
rs561124	1.00[AMR][1000 genomes]
rs562230	1.00[AMR][1000 genomes]
rs562896	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57875447	1.00[AMR][1000 genomes]
rs73428210	1.00[AMR][1000 genomes]
rs73428213	1.00[AMR][1000 genomes]
rs849355	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:19 , 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	chr22:27725000-27725800	Enhancers	Ovary	ovary
6	chr22:27725000-27726000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr22:27725000-27726000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:27725000-27726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:27725000-27726200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:27725400-27725800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:27725400-27726000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr22:27725600-27725800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr22:27725600-27725800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:27725600-27725800	Enhancers	Adipose Nuclei	Adipose
15	chr22:27725600-27725800	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr22:27725600-27726000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr22:27725600-27726000	Weak transcription	Brain Germinal Matrix	brain
18	chr22:27725600-27726200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:27725600-27726200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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