Variant report

Variant	rs2185326
Chromosome Location	chr1:222137387-222137388
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:222136897-222137525	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228437	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11118919	0.88[JPT][hapmap]
rs1416894	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2790754	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2790756	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800841	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800845	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2800853	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4846738	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6671937	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][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	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222133400-222137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:222133600-222137400	Enhancers	Dnd41	blood
3	chr1:222134600-222137400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:222134800-222137400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:222135000-222138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:222135600-222137400	Enhancers	Hela-S3	cervix
7	chr1:222135600-222137800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:222135600-222138000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:222135600-222138000	Weak transcription	Stomach Mucosa	stomach
10	chr1:222135800-222137600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:222135800-222138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:222135800-222138600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:222136000-222138000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:222136000-222138400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:222136000-222139000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:222136000-222142400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:222136200-222138400	Weak transcription	Osteobl	bone
18	chr1:222136400-222138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:222136400-222138400	Weak transcription	HepG2	liver
20	chr1:222136400-222142400	Weak transcription	HSMM	muscle
21	chr1:222136600-222140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:222136600-222141600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:222137200-222137400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:222137200-222137400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:222137200-222137400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:222137200-222137400	Enhancers	NHDF-Ad	bronchial
27	chr1:222137200-222137400	Enhancers	NHLF	lung
28	chr1:222137200-222138400	Enhancers	A549	lung
29	chr1:222137200-222138600	Enhancers	HUES6 Cell Line	embryonic stem cell

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