Variant report

Variant	rs4846733
Chromosome Location	chr1:222070667-222070668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222068211..222070945-chr1:222072868..222074918,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11808477	0.86[ASN][1000 genomes]
rs11811613	0.86[ASN][1000 genomes]
rs1986424	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2378490	0.86[EUR][1000 genomes]
rs4846734	0.85[EUR][1000 genomes]
rs4846735	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222048600-222073600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222064600-222073400	Weak transcription	Psoas Muscle	Psoas
3	chr1:222065800-222070800	Weak transcription	NHEK	skin
4	chr1:222065800-222070800	Weak transcription	NHLF	lung
5	chr1:222066000-222070800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:222069800-222071200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:222069800-222071200	Enhancers	NHDF-Ad	bronchial
8	chr1:222070000-222071200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:222070000-222071200	Enhancers	Hela-S3	cervix
10	chr1:222070000-222071200	Enhancers	HSMM	muscle
11	chr1:222070000-222071600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:222070200-222071000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:222070200-222071200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:222070200-222071200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:222070200-222071200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:222070200-222071200	Enhancers	Adipose Nuclei	Adipose
17	chr1:222070200-222071200	Enhancers	HMEC	breast
18	chr1:222070200-222071200	Enhancers	HSMMtube	muscle
19	chr1:222070200-222071200	Enhancers	Osteobl	bone
20	chr1:222070200-222071400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr1:222070400-222070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:222070400-222070800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr1:222070400-222071200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:222070400-222071200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:222070600-222071000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:222070600-222071000	Enhancers	Fetal Brain Male	brain
27	chr1:222070600-222071200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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