Variant report

Variant	rs1878318
Chromosome Location	chr2:113545185-113545186
allele	C/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	FOS	chr2:113544835-113545293	MCF10A-Er-Src	breast:	n/a	chr2:113545222-113545231 chr2:113545062-113545073 chr2:113545064-113545072 chr2:113545065-113545072 chr2:113545064-113545072
2	STAT3	chr2:113544871-113545484	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:113544875-113545362	HUVEC	blood vessel:	n/a	chr2:113545222-113545231 chr2:113545062-113545073 chr2:113545064-113545072 chr2:113545312-113545319 chr2:113545065-113545072 chr2:113545064-113545072
4	SPI1	chr2:113545162-113545962	HL-60	blood:	n/a	n/a
5	MYC	chr2:113544898-113545186	MCF10A-Er-Src	breast:	n/a	chr2:113545063-113545072
6	FOS	chr2:113544815-113545240	MCF10A-Er-Src	breast:	n/a	chr2:113545222-113545231 chr2:113545062-113545073 chr2:113545064-113545072 chr2:113545065-113545072 chr2:113545064-113545072
7	FOS	chr2:113544890-113545225	MCF10A-Er-Src	breast:	n/a	chr2:113545062-113545073 chr2:113545064-113545072 chr2:113545065-113545072 chr2:113545064-113545072
8	EP300	chr2:113545106-113545677	K562	blood:	n/a	n/a
9	STAT3	chr2:113544880-113545319	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr2:113545013-113545296	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr2:113544695-113545192	HUVEC	blood vessel:	n/a	n/a
12	STAT3	chr2:113544881-113545239	MCF10A-Er-Src	breast:	n/a	n/a
13	JUN	chr2:113544870-113545241	HUVEC	blood vessel:	n/a	chr2:113545222-113545231 chr2:113545064-113545072 chr2:113545065-113545072 chr2:113545064-113545072
14	FOS	chr2:113544882-113545227	MCF10A-Er-Src	breast:	n/a	chr2:113545062-113545073 chr2:113545064-113545072 chr2:113545065-113545072 chr2:113545064-113545072
15	POLR2A	chr2:113544730-113545356	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr2:113544883-113545542	MCF10A-Er-Src	breast:	n/a	chr2:113545063-113545072

Variant related genes	Relation type
IL1A	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1040193	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11677416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898680	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1304037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417956	0.82[CHB][hapmap]
rs1516789	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1516790	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1878319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1894399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071375	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856836	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856840	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2856841	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34015482	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783557	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs3783559	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848299	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4848304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4849119	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59674541	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61381693	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542090	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542091	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542092	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542093	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542094	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825514	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825532	0.85[EUR][1000 genomes]
rs7368808	0.85[EUR][1000 genomes]
rs7570215	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583261	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113534000-113551800	Weak transcription	Fetal Heart	heart
2	chr2:113542000-113545200	Weak transcription	Adipose Nuclei	Adipose
3	chr2:113542200-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113542400-113545200	Enhancers	HUVEC	blood vessel
5	chr2:113542400-113546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:113542600-113548600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:113543000-113545600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113543000-113547800	Weak transcription	Hela-S3	cervix
10	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:113543200-113548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:113543600-113548800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:113543600-113548800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:113543800-113545200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:113543800-113548600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:113544000-113545600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:113544200-113547000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:113544400-113545400	Enhancers	HMEC	breast
19	chr2:113544600-113546600	Enhancers	Primary hematopoietic stem cells	blood
20	chr2:113544600-113547000	Enhancers	K562	blood
21	chr2:113544600-113547200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr2:113544800-113545600	Enhancers	NHEK	skin
23	chr2:113545000-113545800	Enhancers	Primary B cells from cord blood	blood
24	chr2:113545000-113546600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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