Variant report

Variant	rs56257399
Chromosome Location	chr1:215177632-215177633
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	EP300	chr1:215177094-215178298	SK-N-SH_RA	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
2	JUND	chr1:215177531-215179055	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:215177263-215179503	SK-N-SH	brain:	n/a	chr1:215178595-215178611
4	EP300	chr1:215177121-215179036	SK-N-SH	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
5	GATA3	chr1:215176919-215179889	SK-N-SH	brain:	n/a	chr1:215178573-215178581 chr1:215177232-215177239 chr1:215178424-215178445 chr1:215177231-215177241 chr1:215178663-215178671 chr1:215177228-215177244 chr1:215177232-215177241 chr1:215177225-215177246 chr1:215178431-215178438 chr1:215178567-215178588 chr1:215178519-215178526 chr1:215178431-215178438 chr1:215178564-215178571 chr1:215178430-215178440 chr1:215178431-215178438 chr1:215178563-215178571
6	GATA3	chr1:215177564-215178912	SH-SY5Y	brain:	n/a	chr1:215178573-215178581 chr1:215178424-215178445 chr1:215178663-215178671 chr1:215178431-215178438 chr1:215178567-215178588 chr1:215178519-215178526 chr1:215178431-215178438 chr1:215178564-215178571 chr1:215178430-215178440 chr1:215178431-215178438 chr1:215178563-215178571
7	TEAD4	chr1:215177551-215179251	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr1:215176971-215179297	SK-N-SH	brain:	n/a	n/a
9	TCF12	chr1:215177258-215179099	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr1:215177461-215179302	SK-N-SH	brain:	n/a	n/a
11	FOXM1	chr1:215177607-215179327	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr1:215177125-215178912	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr1:215176924-215179719	SK-N-SH	brain:	n/a	chr1:215178573-215178581 chr1:215177232-215177239 chr1:215178424-215178445 chr1:215177231-215177241 chr1:215178663-215178671 chr1:215177228-215177244 chr1:215177232-215177241 chr1:215177225-215177246 chr1:215178431-215178438 chr1:215178567-215178588 chr1:215178519-215178526 chr1:215178431-215178438 chr1:215178564-215178571 chr1:215178430-215178440 chr1:215178431-215178438 chr1:215178563-215178571
14	EP300	chr1:215177501-215179088	SK-N-SH	brain:	n/a	n/a
15	JUND	chr1:215177410-215178959	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr1:215176679-215179272	SH-SY5Y	brain:	n/a	chr1:215177232-215177239 chr1:215178424-215178445 chr1:215177231-215177241 chr1:215178663-215178671 chr1:215177228-215177244 chr1:215177232-215177241 chr1:215177225-215177246 chr1:215178431-215178438 chr1:215178567-215178588 chr1:215178519-215178526 chr1:215178431-215178438 chr1:215178564-215178571 chr1:215178430-215178440 chr1:215178431-215178438
17	EP300	chr1:215177056-215178799	SK-N-SH_RA	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
18	TEAD4	chr1:215177601-215179003	SK-N-SH	brain:	n/a	n/a
19	TCF12	chr1:215177195-215179578	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr1:215176763-215177649	MCF-7	breast:	n/a	chr1:215177232-215177239 chr1:215177231-215177241 chr1:215177228-215177244 chr1:215177232-215177241 chr1:215177225-215177246

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215177498..215178498-chr13:40006578..40007578,2	MCF-7	breast:

Variant related genes	Relation type
KCNK2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10429947	0.92[EUR][1000 genomes]
rs11120459	0.83[ASN][1000 genomes]
rs12061587	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12069528	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12403837	0.85[ASN][1000 genomes]
rs55651080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55662674	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs55913832	0.90[ASN][1000 genomes]
rs55922125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56001365	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56036238	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56042055	0.90[ASN][1000 genomes]
rs56152266	0.85[ASN][1000 genomes]
rs56274886	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59259176	0.85[ASN][1000 genomes]
rs59365356	0.85[ASN][1000 genomes]
rs60526056	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61818261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61818265	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818266	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818267	0.92[EUR][1000 genomes]
rs61818268	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818271	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818272	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818276	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818277	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818278	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818279	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818290	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818293	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818294	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818295	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61818296	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61818298	1.00[AMR][1000 genomes]
rs61818301	1.00[AMR][1000 genomes]
rs61818303	1.00[AMR][1000 genomes]
rs61819972	0.90[ASN][1000 genomes]
rs61819973	0.85[ASN][1000 genomes]
rs61819974	0.85[ASN][1000 genomes]
rs61819975	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61819978	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61819981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61819982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61820014	1.00[EUR][1000 genomes]
rs61820015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468105	chr1:215167236-215248417	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv549182	chr1:215167236-215248417	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215174600-215178200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:215174600-215178600	Enhancers	Osteobl	bone
3	chr1:215174800-215178000	Enhancers	NHDF-Ad	bronchial
4	chr1:215176000-215178600	Weak transcription	HSMM	muscle
5	chr1:215176000-215178800	Weak transcription	HSMMtube	muscle
6	chr1:215176400-215178600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:215176400-215178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:215176600-215177800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:215176600-215178600	Weak transcription	NHEK	skin
10	chr1:215177000-215178200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:215177000-215178600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:215177200-215178800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:215177200-215211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:215177400-215177800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:215177400-215178400	Weak transcription	NH-A	brain
16	chr1:215177400-215179400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:215177600-215178400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:215177600-215178600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:215177600-215179200	Enhancers	NHLF	lung

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