Variant report

Variant	rs2799759
Chromosome Location	chr1:119447862-119447863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119445825..119448142-chr1:119487974..119490640,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1408855	1.00[AMR][1000 genomes]
rs57010239	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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119428200-119449800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:119429400-119490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:119433000-119449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:119437800-119461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:119441800-119455600	Strong transcription	Fetal Muscle Leg	muscle
6	chr1:119442000-119449800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:119442200-119452600	Weak transcription	HSMM	muscle
8	chr1:119443000-119448000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:119443400-119448000	Weak transcription	Liver	Liver
10	chr1:119444000-119449000	Weak transcription	HSMMtube	muscle
11	chr1:119444600-119449000	Weak transcription	Psoas Muscle	Psoas
12	chr1:119444600-119449000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:119445400-119448000	Weak transcription	Osteobl	bone
14	chr1:119445800-119477200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:119446000-119449800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:119446000-119452600	Weak transcription	NHDF-Ad	bronchial
17	chr1:119446600-119470800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:119447200-119449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:119447600-119448200	Enhancers	Adipose Nuclei	Adipose
20	chr1:119447600-119448600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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