Variant report

Variant	rs73297599
Chromosome Location	chr12:47700291-47700292
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12301612	1.00[AMR][1000 genomes]
rs12303418	1.00[AMR][1000 genomes]
rs12306190	1.00[AMR][1000 genomes]
rs55799908	1.00[AMR][1000 genomes]
rs56398760	1.00[AMR][1000 genomes]
rs60488819	1.00[AMR][1000 genomes]
rs74084707	1.00[AMR][1000 genomes]
rs74084709	1.00[AMR][1000 genomes]
rs74084924	1.00[AMR][1000 genomes]
rs74084925	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47693400-47701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47694200-47700600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:47694200-47700800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:47696400-47700800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:47696400-47701000	Weak transcription	GM12878-XiMat	blood
6	chr12:47696600-47700800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:47696600-47700800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:47696600-47701400	Weak transcription	K562	blood
9	chr12:47697800-47701200	Weak transcription	Osteobl	bone
10	chr12:47697800-47701400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:47697800-47701400	Weak transcription	Esophagus	oesophagus
12	chr12:47698000-47701000	Weak transcription	NH-A	brain
13	chr12:47698200-47701400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:47698400-47701400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:47698800-47700400	ZNF genes & repeats	A549	lung
16	chr12:47699000-47700400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47699400-47700800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr12:47699600-47700800	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:47699800-47700400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr12:47700000-47700800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:47700200-47700600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:47700200-47700800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:47700200-47700800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:47700200-47700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:47700200-47701600	Active TSS	Primary T helper cells PMA-I stimulated	--

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