Variant report

Variant	rs60526056
Chromosome Location	chr1:215175798-215175799
allele	G/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	MAX	chr1:215175665-215176373	SK-N-SH	brain:	n/a	chr1:215176188-215176197
2	NFIC	chr1:215175569-215176478	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr1:215175486-215176493	SK-N-SH	brain:	n/a	n/a
4	MEF2A	chr1:215175508-215176336	SK-N-SH	brain:	n/a	chr1:215175548-215175563 chr1:215175548-215175562 chr1:215176188-215176196
5	GATA3	chr1:215175287-215176508	SK-N-SH	brain:	n/a	chr1:215176118-215176126
6	EP300	chr1:215175461-215176506	SK-N-SH	brain:	n/a	chr1:215175647-215175657 chr1:215175589-215175603
7	JUND	chr1:215175480-215176543	SK-N-SH	brain:	n/a	chr1:215176188-215176196
8	MEF2A	chr1:215175565-215176381	SK-N-SH	brain:	n/a	chr1:215176188-215176196
9	RXRA	chr1:215175616-215176441	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr1:215175259-215176654	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:215175658-215176419	SK-N-SH	brain:	n/a	n/a
12	MYC	chr1:215175737-215176221	MCF10A-Er-Src	breast:	n/a	chr1:215176188-215176197
13	REST	chr1:215175796-215176222	PFSK-1	brain:	n/a	n/a
14	PBX3	chr1:215175579-215176474	SK-N-SH	brain:	n/a	n/a
15	FOXM1	chr1:215175386-215176499	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr1:215175635-215176453	SK-N-SH	brain:	n/a	n/a
17	REST	chr1:215175765-215176207	PFSK-1	brain:	n/a	n/a
18	GATA3	chr1:215174674-215176655	SK-N-SH	brain:	n/a	chr1:215176118-215176126
19	TCF12	chr1:215175383-215176598	SK-N-SH	brain:	n/a	n/a
20	REST	chr1:215175734-215176212	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr1:215175790-215175869	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA2	chr1:215175695-215176136	SH-SY5Y	brain:	n/a	chr1:215176118-215176126
23	POLR2A	chr1:215175697-215176125	ProgFib	skin:	n/a	n/a
24	EP300	chr1:215175452-215176532	SK-N-SH	brain:	n/a	chr1:215175647-215175657 chr1:215175589-215175603
25	TEAD4	chr1:215175484-215176437	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr1:215175734-215176103	SH-SY5Y	brain:	n/a	n/a
27	JUND	chr1:215175565-215176541	SK-N-SH	brain:	n/a	chr1:215176188-215176196
28	NFIC	chr1:215175474-215176580	SK-N-SH	brain:	n/a	chr1:215175539-215175555
29	FOSL2	chr1:215175525-215176509	SK-N-SH	brain:	n/a	chr1:215176188-215176196
30	ZBTB33	chr1:215175712-215176346	SK-N-SH	brain:	n/a	n/a
31	ELF1	chr1:215175679-215176390	SK-N-SH	brain:	n/a	n/a
32	MAX	chr1:215175621-215176367	SK-N-SH	brain:	n/a	chr1:215176188-215176197
33	EP300	chr1:215175783-215176283	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:215175482..215177146-chr1:215181742..215183576,2	K562	blood:

Variant related genes	Relation type
KCNK2	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12061587	1.00[AMR][1000 genomes]
rs12069528	1.00[AMR][1000 genomes]
rs12403837	0.85[ASN][1000 genomes]
rs55651080	1.00[AMR][1000 genomes]
rs55662674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55913832	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55922125	1.00[AMR][1000 genomes]
rs56001365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56036238	1.00[AMR][1000 genomes]
rs56042055	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56152266	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56257399	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56274886	1.00[AMR][1000 genomes]
rs570147	0.94[EUR][1000 genomes]
rs59084003	0.80[ASN][1000 genomes]
rs59259176	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs59365356	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61818240	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818241	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818243	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818244	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818245	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818249	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61818261	1.00[AMR][1000 genomes]
rs61818265	1.00[AMR][1000 genomes]
rs61818266	1.00[AMR][1000 genomes]
rs61818268	1.00[AMR][1000 genomes]
rs61818271	1.00[AMR][1000 genomes]
rs61818272	1.00[AMR][1000 genomes]
rs61818276	1.00[AMR][1000 genomes]
rs61818277	1.00[AMR][1000 genomes]
rs61818278	1.00[AMR][1000 genomes]
rs61818279	1.00[AMR][1000 genomes]
rs61818290	1.00[AMR][1000 genomes]
rs61818293	1.00[AMR][1000 genomes]
rs61818294	1.00[AMR][1000 genomes]
rs61818295	1.00[AMR][1000 genomes]
rs61818296	1.00[AMR][1000 genomes]
rs61818298	1.00[AMR][1000 genomes]
rs61818301	1.00[AMR][1000 genomes]
rs61818303	1.00[AMR][1000 genomes]
rs61819972	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61819973	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819974	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61819978	0.85[ASN][1000 genomes]
rs61819981	1.00[AMR][1000 genomes]
rs61819982	1.00[AMR][1000 genomes]
rs61820009	1.00[AMR][1000 genomes]
rs61820011	1.00[AMR][1000 genomes]
rs61820013	1.00[AMR][1000 genomes]
rs61820015	1.00[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215174600-215176000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:215174600-215176200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:215174600-215176400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:215174600-215176400	Enhancers	HMEC	breast
5	chr1:215174600-215176600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:215174600-215176600	Enhancers	NHEK	skin
7	chr1:215174600-215177400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:215174600-215178200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:215174600-215178600	Enhancers	Osteobl	bone
10	chr1:215174800-215176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:215174800-215176600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:215174800-215176800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:215174800-215176800	Enhancers	NH-A	brain
14	chr1:215174800-215178000	Enhancers	NHDF-Ad	bronchial
15	chr1:215175000-215176600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:215175000-215176600	Enhancers	NHLF	lung
17	chr1:215175200-215176000	Enhancers	HSMM	muscle
18	chr1:215175200-215176400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:215175200-215176400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:215175400-215176200	Enhancers	GM12878-XiMat	blood
21	chr1:215175600-215176000	Enhancers	HSMMtube	muscle

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