Variant report

Variant	rs74115420
Chromosome Location	chr1:153366620-153366621
allele	A/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	CTCF	chr1:153366545-153366927	H1-hESC	embryonic stem cell:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742 chr1:153366907-153366920
2	CTCF	chr1:153366610-153366816	MCF-7	breast:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
3	CTCF	chr1:153366545-153366813	K562	blood:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
4	CTCF	chr1:153366493-153366954	K562	blood:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742 chr1:153366907-153366920
5	CTCF	chr1:153366620-153366770	HCT-116	colon:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
6	CTCF	chr1:153366613-153366865	K562	blood:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
7	CTCF	chr1:153366600-153366750	HEK293	kidney:	n/a	chr1:153366726-153366744 chr1:153366729-153366742
8	RAD21	chr1:153366448-153366984	H1-hESC	embryonic stem cell:	n/a	chr1:153366727-153366746
9	CTCF	chr1:153366600-153366750	GM12865	blood:	n/a	chr1:153366726-153366744 chr1:153366729-153366742
10	STAT3	chr1:153365359-153366858	MCF10A-Er-Src	breast:	n/a	chr1:153366553-153366565 chr1:153365583-153365592 chr1:153366060-153366067
11	RAD21	chr1:153366538-153366957	H1-hESC	embryonic stem cell:	n/a	chr1:153366727-153366746
12	CTCF	chr1:153366612-153366814	MCF-7	breast:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
13	CTCF	chr1:153366620-153366770	GM12871	blood:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
14	FOS	chr1:153365996-153366823	MCF10A-Er-Src	breast:	n/a	chr1:153366687-153366696
15	MYC	chr1:153366571-153366846	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr1:153366620-153366770	SAEC	small airway:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
17	CTCF	chr1:153366580-153366730	GM12866	blood:	n/a	n/a
18	CTCF	chr1:153366580-153366730	GM12872	blood:	n/a	n/a
19	CTCF	chr1:153366600-153366750	SK-N-SH_RA	brain:	n/a	chr1:153366726-153366744 chr1:153366729-153366742
20	CTCF	chr1:153366602-153366853	H1-hESC	embryonic stem cell:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
21	STAT3	chr1:153366457-153367039	MCF10A-Er-Src	breast:	n/a	chr1:153366553-153366565
22	FOS	chr1:153366575-153366771	MCF10A-Er-Src	breast:	n/a	chr1:153366687-153366696
23	CTCF	chr1:153366577-153366863	H1-hESC	embryonic stem cell:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
24	FOS	chr1:153365431-153366823	MCF10A-Er-Src	breast:	n/a	chr1:153365583-153365592 chr1:153366687-153366696 chr1:153365582-153365593
25	STAT3	chr1:153366016-153366893	MCF10A-Er-Src	breast:	n/a	chr1:153366553-153366565 chr1:153366060-153366067
26	CTCF	chr1:153366620-153366770	HRPEpiC	eye:	n/a	chr1:153366726-153366744 chr1:153366739-153366752 chr1:153366729-153366742
27	MYC	chr1:153366527-153366831	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr1:153366600-153366750	SAEC	small airway:	n/a	chr1:153366726-153366744 chr1:153366729-153366742
29	STAT3	chr1:153366000-153366909	MCF10A-Er-Src	breast:	n/a	chr1:153366553-153366565 chr1:153366060-153366067
30	CTCF	chr1:153366560-153366710	GM12873	blood:	n/a	n/a
31	CTCF	chr1:153366580-153366730	Caco-2	colon:	n/a	n/a
32	FOS	chr1:153366098-153366782	MCF10A-Er-Src	breast:	n/a	chr1:153366687-153366696
33	RAD21	chr1:153366560-153366907	H1-hESC	embryonic stem cell:	n/a	chr1:153366727-153366746

No.	Distal block	Cell Line	Cell type
1	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:
2	chr1:153366171..153367906-chr1:153465906..153468901,2	MCF-7	breast:
3	chr1:153365407..153367710-chr1:153401211..153403404,2	MCF-7	breast:
4	chr1:153329068..153329590-chr1:153366450..153367010,2	MCF-7	breast:
5	chr1:153361884..153364099-chr1:153365035..153367811,2	K562	blood:
6	chr1:153327676..153328548-chr1:153366241..153367145,3	MCF-7	breast:

Variant related genes	Relation type
S100A8	TF binding region
ENSG00000143546	Chromatin interaction
ENSG00000163220	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56396853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56887788	0.83[AFR][1000 genomes]
rs57544274	0.88[AFR][1000 genomes]
rs74115413	0.85[AFR][1000 genomes]
rs74115415	0.87[AFR][1000 genomes]
rs74115416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115417	0.87[AFR][1000 genomes]
rs74115418	0.87[AFR][1000 genomes]
rs74115426	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153356800-153368200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:153361800-153368600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:153363200-153367400	Weak transcription	Right Ventricle	heart
4	chr1:153364400-153367000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:153364400-153367200	Weak transcription	NHEK	skin
6	chr1:153364400-153368200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:153365400-153370200	Enhancers	Esophagus	oesophagus
8	chr1:153365600-153368000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:153365600-153368400	Enhancers	HMEC	breast
10	chr1:153366200-153367400	Enhancers	Placenta	Placenta
11	chr1:153366200-153368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:153366400-153366800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:153366400-153367000	Weak transcription	Primary B cells from cord blood	blood
14	chr1:153366400-153367200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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