Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:26283438-26284226	HL-60	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
2	SPI1	chr12:26283481-26284195	HL-60	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
3	ZNF384	chr12:26283763-26283958	GM12878	blood:	n/a	n/a
4	SPI1	chr12:26283527-26284162	GM12891	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
5	MAX	chr12:26283596-26284271	NB4	blood:	n/a	n/a
6	SPI1	chr12:26283829-26284038	GM12878	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
7	SPI1	chr12:26283576-26284079	GM12878	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
8	SPI1	chr12:26283581-26284155	GM12891	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953
9	SPI1	chr12:26283483-26284277	GM12878	blood:	n/a	chr12:26283941-26283954 chr12:26283943-26283952 chr12:26283940-26283953

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26279728..26281468-chr12:26283213..26285101,2	MCF-7	breast:

Variant related genes	Relation type
SSPN	TF binding region
ENSG00000256894	TF binding region

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10161019	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048419	0.84[ASN][1000 genomes]
rs11829854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830209	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471506	0.82[ASN][1000 genomes]
rs1871553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1993972	0.82[ASN][1000 genomes]
rs1993973	0.82[ASN][1000 genomes]
rs2046066	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2256828	1.00[ASN][1000 genomes]
rs2343074	0.84[ASN][1000 genomes]
rs2343075	0.84[ASN][1000 genomes]
rs2729629	0.82[ASN][1000 genomes]
rs35687239	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7304527	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7309947	0.84[ASN][1000 genomes]
rs74072014	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74072064	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74072070	0.95[EUR][1000 genomes]
rs74072071	0.95[EUR][1000 genomes]
rs74072073	0.95[EUR][1000 genomes]
rs7955074	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26280000-26287800	Weak transcription	Aorta	Aorta
2	chr12:26280400-26286800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:26280600-26287800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:26280600-26290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:26281200-26286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:26281600-26286600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:26281600-26286600	Weak transcription	HMEC	breast
8	chr12:26282800-26286000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:26283400-26284600	Enhancers	Primary B cells from cord blood	blood
10	chr12:26283600-26284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:26283600-26284000	Bivalent Enhancer	GM12878-XiMat	blood
12	chr12:26283600-26284600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:26283600-26284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:26283600-26284600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:26283600-26284800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:26283800-26284400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

Quick Search: