Variant report

Variant	rs2790756
Chromosome Location	chr1:222134866-222134867
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	RXRA	chr1:222134853-222135493	SK-N-SH	brain:	n/a	n/a
2	FOXA2	chr1:222134844-222135050	HepG2	liver:	n/a	n/a
3	TEAD4	chr1:222134709-222135382	HepG2	liver:	n/a	n/a
4	FOSL1	chr1:222134818-222135764	HCT-116	colon:	n/a	chr1:222135170-222135181
5	ARID3A	chr1:222134775-222135425	HepG2	liver:	n/a	n/a
6	JUND	chr1:222134824-222135611	HCT-116	colon:	n/a	chr1:222135170-222135181
7	NR2F2	chr1:222134692-222135579	MCF-7	breast:	n/a	n/a
8	FOSL2	chr1:222134842-222135487	A549	lung:	n/a	chr1:222135171-222135182
9	JUN	chr1:222134537-222135544	K562	blood:	n/a	n/a
10	NR2F2	chr1:222134852-222135668	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000228437	TF binding region

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

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

rs_ID	r²[population]
rs11118919	0.89[JPT][hapmap]
rs1416894	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2039806	0.88[EUR][1000 genomes]
rs2185326	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]
rs2790754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800841	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2800845	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2800853	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[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	0.91[CHB][hapmap];0.89[JPT][hapmap];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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222132000-222135000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:222132000-222135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:222132200-222135200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:222133400-222137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:222133600-222135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:222133600-222135800	Enhancers	K562	blood
7	chr1:222133600-222136200	Enhancers	HSMMtube	muscle
8	chr1:222133600-222137400	Enhancers	Dnd41	blood
9	chr1:222133800-222135000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:222133800-222135200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:222133800-222135200	Enhancers	Hela-S3	cervix
12	chr1:222133800-222135400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:222133800-222136000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:222133800-222136400	Enhancers	HMEC	breast
15	chr1:222133800-222136400	Enhancers	HSMM	muscle
16	chr1:222134200-222135000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:222134200-222135000	Enhancers	HepG2	liver
18	chr1:222134200-222135200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:222134200-222135800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:222134200-222136200	Enhancers	Osteobl	bone
21	chr1:222134200-222136400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:222134200-222136600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:222134400-222135800	Enhancers	NHLF	lung
24	chr1:222134400-222136200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:222134600-222135000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:222134600-222135400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:222134600-222135600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:222134600-222136400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr1:222134600-222137400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:222134800-222135400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:222134800-222135600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:222134800-222135600	Enhancers	Primary T cells from cord blood	blood
33	chr1:222134800-222135600	Enhancers	Liver	Liver
34	chr1:222134800-222135600	Enhancers	Stomach Mucosa	stomach
35	chr1:222134800-222135600	Enhancers	GM12878-XiMat	blood
36	chr1:222134800-222135800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:222134800-222135800	Enhancers	NH-A	brain
38	chr1:222134800-222135800	Enhancers	NHEK	skin
39	chr1:222134800-222136000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:222134800-222136000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:222134800-222136000	Enhancers	NHDF-Ad	bronchial
42	chr1:222134800-222136200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr1:222134800-222137400	Enhancers	Primary monocytes fromperipheralblood	blood

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