Variant report

Variant	rs2800841
Chromosome Location	chr1:222136694-222136695
allele	A/G
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	CEBPB	chr1:222136465-222136775	Hela-S3	cervix:	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]
rs1416894	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2039806	0.88[EUR][1000 genomes]
rs2185326	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2790754	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790756	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800845	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800853	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4846738	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6671937	0.84[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	chr1:222135800-222136800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:222135800-222137000	Weak transcription	NHLF	lung
12	chr1:222135800-222137200	Weak transcription	A549	lung
13	chr1:222135800-222137600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:222135800-222138000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:222135800-222138600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:222136000-222137000	Weak transcription	NHDF-Ad	bronchial
17	chr1:222136000-222137200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:222136000-222138000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:222136000-222138400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:222136000-222139000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222136000-222142400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:222136200-222137200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:222136200-222137200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:222136200-222138400	Weak transcription	Osteobl	bone
25	chr1:222136400-222138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:222136400-222138400	Weak transcription	HepG2	liver
27	chr1:222136400-222142400	Weak transcription	HSMM	muscle
28	chr1:222136600-222140600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:222136600-222141600	Weak transcription	Monocytes-CD14+_RO01746	blood

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