Variant report

Variant	rs612455
Chromosome Location	chr1:62900383-62900384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:62899604-62903300	HepG2	liver:	n/a	n/a
2	MYC	chr1:62900338-62900481	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:62899934-62903502	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr1:62900264-62900524	K562	blood:	n/a	n/a
5	POLR2A	chr1:62899936-62903273	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:62899313-62903762	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:62900344-62900576	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:62899952-62900747	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:62900376-62903500	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr1:62900340-62900490	HMEC	breast:	n/a	n/a
11	POLR2A	chr1:62899587-62903359	Raji	blood:	n/a	n/a
12	POLR2A	chr1:62900344-62900493	GM12878	blood:	n/a	n/a
13	POLR2A	chr1:62900298-62900671	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr1:62900355-62900656	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:62899352-62904806	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62899539..62901299-chr1:62907455..62909142,2	MCF-7	breast:
2	chr1:62862539..62865270-chr1:62897710..62900697,2	K562	blood:

No data

Variant related genes	Relation type
USP1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10889341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167995	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1167997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168038	1.00[AMR][1000 genomes]
rs1168048	1.00[AMR][1000 genomes]
rs1168088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168091	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1168125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690760	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1690765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1748194	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1781215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2029764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2813926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34186185	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs584387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs593519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs657444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs660642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9436660	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62890600-62901000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:62891000-62901000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:62891000-62901000	Weak transcription	NHEK	skin
4	chr1:62892200-62900800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:62895000-62901000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:62895600-62900800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:62895600-62900800	Weak transcription	HMEC	breast
8	chr1:62895600-62901000	Weak transcription	HSMMtube	muscle
9	chr1:62899800-62901000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:62899800-62901000	Weak transcription	NHDF-Ad	bronchial
11	chr1:62900000-62900400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:62900000-62901000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:62900000-62901000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr1:62900000-62901000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:62900000-62901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:62900000-62901000	Weak transcription	HSMM	muscle
17	chr1:62900200-62900400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:62900200-62900800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:62900200-62901000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:62900200-62901000	Weak transcription	Fetal Heart	heart
21	chr1:62900200-62901000	Enhancers	HepG2	liver
22	chr1:62900200-62901200	Enhancers	Fetal Muscle Leg	muscle

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