Variant report

Variant	rs1536622
Chromosome Location	chr13:111064526-111064527
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	TAF1	chr13:111064502-111064755	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr13:111063923-111065207	IMR90	lung:	n/a	n/a
3	RAD21	chr13:111064417-111065053	ECC-1	luminal epithelium:	n/a	n/a
4	STAT3	chr13:111064424-111064893	MCF10A-Er-Src	breast:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
5	ZNF263	chr13:111064159-111064854	HEK293-T-REx	kidney:	n/a	n/a
6	GATA3	chr13:111064260-111065153	A549	lung:	n/a	n/a
7	NFATC1	chr13:111064396-111064977	GM12878	blood:	n/a	n/a
8	MYC	chr13:111064466-111064929	MCF10A-Er-Src	breast:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
9	STAT5A	chr13:111064444-111064966	GM12878	blood:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
10	USF1	chr13:111064518-111064823	A549	lung:	n/a	n/a
11	WRNIP1	chr13:111064492-111064887	GM12878	blood:	n/a	n/a
12	EBF1	chr13:111064385-111064847	GM12878	blood:	n/a	chr13:111064610-111064621
13	NRF1	chr13:111064516-111064656	GM12878	blood:	n/a	n/a
14	MAZ	chr13:111064517-111064942	GM12878	blood:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
15	CHD2	chr13:111064451-111065141	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr13:111064442-111064935	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr13:111064288-111065049	A549	lung:	n/a	n/a
18	CEBPB	chr13:111064400-111065134	A549	lung:	n/a	n/a
19	EP300	chr13:111064308-111065049	SK-N-SH	brain:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
20	RAD21	chr13:111064411-111065045	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr13:111064273-111065056	A549	lung:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
22	PBX3	chr13:111064342-111065040	SK-N-SH	brain:	n/a	chr13:111064513-111064522
23	NR3C1	chr13:111064461-111064841	A549	lung:	n/a	n/a
24	FOS	chr13:111064449-111064951	Hela-S3	cervix:	n/a	chr13:111064671-111064678 chr13:111064670-111064678 chr13:111064668-111064679 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
25	GATA2	chr13:111064477-111064991	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr13:111064229-111065411	SK-N-SH	brain:	n/a	chr13:111064537-111064550 chr13:111064763-111064781
27	ATF3	chr13:111064462-111064891	A549	lung:	n/a	n/a
28	POLR2A	chr13:111064247-111065046	HUVEC	blood vessel:	n/a	n/a
29	EP300	chr13:111064497-111064844	SK-N-SH_RA	brain:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
30	FOS	chr13:111064444-111065009	MCF10A-Er-Src	breast:	n/a	chr13:111064671-111064678 chr13:111064993-111065004 chr13:111064997-111065005 chr13:111064670-111064678 chr13:111064668-111064679 chr13:111064996-111065007 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
31	RELA	chr13:111064268-111064949	GM18951	blood:	n/a	n/a
32	MAX	chr13:111064483-111064870	GM12878	blood:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
33	JUND	chr13:111064481-111064970	K562	blood:	n/a	chr13:111064671-111064678 chr13:111064670-111064678 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
34	USF2	chr13:111064485-111064943	Hela-S3	cervix:	n/a	n/a
35	TEAD4	chr13:111064384-111065019	ECC-1	luminal epithelium:	n/a	n/a
36	EBF1	chr13:111064382-111064881	GM12878	blood:	n/a	chr13:111064610-111064621
37	CEBPB	chr13:111064364-111065218	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr13:111064493-111064981	H1-hESC	embryonic stem cell:	n/a	chr13:111064600-111064611 chr13:111064805-111064816 chr13:111064805-111064820
39	JUND	chr13:111064224-111065159	Hela-S3	cervix:	n/a	chr13:111064671-111064678 chr13:111064993-111065004 chr13:111064997-111065005 chr13:111064670-111064678 chr13:111064996-111065007 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
40	EP300	chr13:111064513-111064841	SK-N-SH_RA	brain:	n/a	chr13:111064670-111064679 chr13:111064669-111064678
41	JUND	chr13:111064168-111065648	SK-N-SH	brain:	n/a	chr13:111064671-111064678 chr13:111064993-111065004 chr13:111064997-111065005 chr13:111064670-111064678 chr13:111065405-111065414 chr13:111064996-111065007 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
42	YY1	chr13:111064476-111064836	GM12878	blood:	n/a	n/a
43	CEBPB	chr13:111064412-111064885	MCF-7	breast:	n/a	n/a
44	POLR2A	chr13:111064432-111064870	MCF10A-Er-Src	breast:	n/a	n/a
45	ELK1	chr13:111064387-111064847	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr13:111064447-111065177	Hela-S3	cervix:	n/a	n/a
47	GATA3	chr13:111064401-111064920	MCF-7	breast:	n/a	n/a
48	GATA3	chr13:111064409-111064963	MCF-7	breast:	n/a	n/a
49	FOSL2	chr13:111064432-111064870	MCF-7	breast:	n/a	chr13:111064671-111064678 chr13:111064670-111064678 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
50	MAX	chr13:111064425-111065042	ECC-1	luminal epithelium:	n/a	chr13:111064670-111064679 chr13:111064669-111064678

No.	Distal block	Cell Line	Cell type
1	chr13:111064379..111065184-chr13:111096354..111096894,3	MCF-7	breast:
2	chr13:110899641..110900501-chr13:111064285..111065117,5	MCF-7	breast:
3	chr13:110874637..110875247-chr13:111064309..111065320,5	K562	blood:
4	chr13:110874596..110875214-chr13:111064347..111065092,2	MCF-7	breast:
5	chr13:111063956..111066256-chr13:111066546..111068934,2	K562	blood:
6	chr13:110926826..110927499-chr13:111064292..111064841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238629	TF binding region
ENSG00000238629	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10161705	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs10851243	0.84[GIH][hapmap];1.00[MEX][hapmap]
rs12585289	0.85[CEU][hapmap]
rs12868443	0.86[CHB][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap]
rs4132949	0.81[JPT][hapmap]
rs4555010	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4773180	0.90[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.81[TSI][hapmap];0.88[ASN][1000 genomes]
rs61963204	0.84[ASN][1000 genomes]
rs61963219	0.89[EUR][1000 genomes]
rs6492270	0.85[CEU][hapmap];1.00[MEX][hapmap]
rs9555696	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9559786	0.80[ASN][1000 genomes]
rs9559789	0.91[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs9559790	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs9559791	0.84[ASN][1000 genomes]
rs9559792	0.91[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9559793	0.90[CHB][hapmap];0.84[ASN][1000 genomes]
rs9559794	0.86[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.93[JPT][hapmap];0.86[MEX][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
2	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111056200-111066000	Enhancers	Lung	lung
4	chr13:111057800-111064800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr13:111057800-111070400	Enhancers	Right Atrium	heart
6	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
7	chr13:111059400-111065200	Enhancers	Spleen	Spleen
8	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111059800-111064800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:111059800-111065200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:111060200-111065200	Enhancers	HMEC	breast
12	chr13:111060200-111065600	Weak transcription	Esophagus	oesophagus
13	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
14	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:111060400-111064800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:111061000-111065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:111061200-111065800	Enhancers	Colon Smooth Muscle	Colon
19	chr13:111061400-111064800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:111061400-111065600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:111061400-111065600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:111061400-111065800	Enhancers	Rectal Smooth Muscle	rectum
23	chr13:111061600-111065200	Enhancers	Fetal Kidney	kidney
24	chr13:111061600-111065800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr13:111061600-111069200	Weak transcription	Fetal Brain Male	brain
26	chr13:111061800-111064800	Enhancers	NH-A	brain
27	chr13:111061800-111066000	Enhancers	HSMM	muscle
28	chr13:111061800-111066200	Enhancers	NHLF	lung
29	chr13:111061800-111066800	Enhancers	Placenta	Placenta
30	chr13:111062000-111065800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:111062000-111065800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:111062000-111069000	Enhancers	Left Ventricle	heart
33	chr13:111062400-111066000	Enhancers	Ovary	ovary
34	chr13:111062600-111065600	Enhancers	Fetal Muscle Leg	muscle
35	chr13:111062800-111064600	Enhancers	Fetal Lung	lung
36	chr13:111062800-111068400	Weak transcription	Gastric	stomach
37	chr13:111063200-111065600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:111063200-111065600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:111063600-111064800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr13:111063600-111065000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr13:111063600-111065400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:111063600-111065400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr13:111063600-111065800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:111063800-111064600	Bivalent Enhancer	Fetal Thymus	thymus
45	chr13:111063800-111065200	Enhancers	Fetal Stomach	stomach
46	chr13:111063800-111065600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:111064000-111065000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr13:111064000-111065200	Enhancers	Duodenum Mucosa	Duodenum
50	chr13:111064000-111065200	Flanking Active TSS	Fetal Heart	heart

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