Variant report

Variant	rs7539443
Chromosome Location	chr1:172499712-172499713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:172498930-172499762	MCF-7	breast:	n/a	n/a
2	GATA2	chr1:172499115-172499780	K562	blood:	n/a	n/a
3	MYC	chr1:172499025-172499744	K562	blood:	n/a	n/a
4	IRF1	chr1:172498819-172499744	K562	blood:	n/a	n/a
5	FOXM1	chr1:172498894-172499717	MCF-7	breast:	n/a	n/a
6	NR2F2	chr1:172498965-172499747	MCF-7	breast:	n/a	n/a
7	ELF1	chr1:172498957-172499827	MCF-7	breast:	n/a	n/a
8	IRF1	chr1:172499022-172499719	K562	blood:	n/a	n/a
9	TCF12	chr1:172498903-172499740	MCF-7	breast:	n/a	chr1:172499324-172499333
10	EP300	chr1:172499005-172499761	MCF-7	breast:	n/a	chr1:172499323-172499333
11	HMGN3	chr1:172499236-172499722	K562	blood:	n/a	n/a
12	GATA3	chr1:172498912-172499736	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr1:172498923-172499794	MCF-7	breast:	n/a	n/a
14	NR2F2	chr1:172498976-172499801	MCF-7	breast:	n/a	n/a
15	GATA3	chr1:172498657-172499874	MCF-7	breast:	n/a	n/a
16	HDAC2	chr1:172499028-172499773	MCF-7	breast:	n/a	chr1:172499324-172499333
17	CEBPB	chr1:172498986-172499766	MCF-7	breast:	n/a	n/a
18	EP300	chr1:172499010-172499724	MCF-7	breast:	n/a	chr1:172499323-172499333
19	GATA3	chr1:172499008-172499744	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr1:172498904-172499756	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172411084..172422561-chr1:172496524..172504623,44	MCF-7	breast:
2	chr1:172486127..172488704-chr1:172497575..172501072,3	MCF-7	breast:
3	chr1:172396812..172398792-chr1:172499531..172501174,2	MCF-7	breast:
4	chr1:172499065..172502708-chr1:172575408..172578949,3	K562	blood:
5	chr1:172440495..172444630-chr1:172497465..172500697,4	MCF-7	breast:
6	chr1:172469701..172471621-chr1:172497308..172500120,2	K562	blood:
7	chr1:172438999..172439573-chr1:172499191..172499779,2	MCF-7	breast:
8	chr1:172398685..172401320-chr1:172498374..172501094,2	MCF-7	breast:
9	chr1:172412087..172424934-chr1:172497120..172505334,59	MCF-7	breast:
10	chr1:172410326..172414934-chr1:172499314..172504781,7	K562	blood:

No data

Variant related genes	Relation type
SUCO	TF binding region
ENSG00000094975	Chromatin interaction
ENSG00000135845	Chromatin interaction
ENSG00000180999	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10157500	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10157519	0.96[ASN][1000 genomes]
rs10218613	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10489280	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10752994	0.83[ASN][1000 genomes]
rs10798040	0.97[ASN][1000 genomes]
rs10911856	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912058	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10912080	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912083	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10912084	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11805370	0.80[AMR][1000 genomes]
rs12087284	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12121051	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12146100	0.84[AMR][1000 genomes]
rs1894625	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2097492	0.80[AMR][1000 genomes]
rs2097494	0.83[AMR][1000 genomes]
rs2097498	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2157420	0.81[AMR][1000 genomes]
rs2227188	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2285144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422144	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2472550	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472552	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752515	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3768444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145436	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4433434	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5014539	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6424973	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6425007	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6656713	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6686080	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6686157	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6695152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525372	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539231	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs763108	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9425646	0.82[ASN][1000 genomes]
rs9943276	0.88[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7539443	SUCO	cis	Muscle Skeletal	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172495800-172500400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:172498200-172500600	Enhancers	HepG2	liver
3	chr1:172498200-172501200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:172498400-172500600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:172498800-172500400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:172499000-172500400	Enhancers	K562	blood
7	chr1:172499000-172500600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:172499200-172500400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:172499200-172500800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:172499400-172499800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:172499400-172499800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:172499400-172500600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:172499400-172500600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:172499600-172500200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:172499600-172500400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:172499600-172500600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:172499600-172500600	Weak transcription	Hela-S3	cervix

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