Variant report

Variant	rs34015427
Chromosome Location	chr1:215178855-215178856
allele	C/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	MAX	chr1:215178409-215178910	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr1:215177759-215178931	SK-N-SH	brain:	n/a	chr1:215178595-215178611
3	JUND	chr1:215177531-215179055	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr1:215177263-215179503	SK-N-SH	brain:	n/a	chr1:215178595-215178611
5	EP300	chr1:215177121-215179036	SK-N-SH	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
6	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
7	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
8	POLR2A	chr1:215178583-215179437	ProgFib	skin:	n/a	n/a
9	GATA3	chr1:215178100-215179023	MCF-7	breast:	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
10	TEAD4	chr1:215177551-215179251	SK-N-SH	brain:	n/a	n/a
11	FOXM1	chr1:215177680-215178918	SK-N-SH	brain:	n/a	n/a
12	PBX3	chr1:215176971-215179297	SK-N-SH	brain:	n/a	n/a
13	KAP1	chr1:215177693-215179237	HEK293	kidney:	n/a	n/a
14	TCF12	chr1:215177258-215179099	SK-N-SH	brain:	n/a	n/a
15	TCF7L2	chr1:215177885-215179318	HEK293	kidney:	n/a	chr1:215179223-215179237 chr1:215178766-215178775 chr1:215179222-215179238 chr1:215179222-215179238
16	MAX	chr1:215178424-215179370	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:215177461-215179302	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr1:215178223-215178917	MCF-7	breast:	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
19	FOXM1	chr1:215177607-215179327	SK-N-SH	brain:	n/a	n/a
20	MEF2A	chr1:215178251-215178929	SK-N-SH	brain:	n/a	chr1:215178702-215178717 chr1:215178704-215178715
21	PBX3	chr1:215177125-215178912	SK-N-SH	brain:	n/a	n/a
22	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
23	EP300	chr1:215177501-215179088	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr1:215177680-215179205	SK-N-SH	brain:	n/a	n/a
25	JUND	chr1:215177410-215178959	SK-N-SH	brain:	n/a	n/a
26	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
27	KAP1	chr1:215178121-215178960	U2OS	brain:	n/a	n/a
28	TEAD4	chr1:215177601-215179003	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr1:215177195-215179578	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:215178854-215178904	SK-N-SH_RA	brain:	n/a
2	chr1:215178854-215178904	BE2_C	brain:	n/a
3	chr1:215178854-215178904	HEEpiC	esophagus:	n/a
4	chr1:215178854-215178904	HRCEpiC	kidney:	n/a
5	chr1:215178854-215178904	GM12878	blood:	n/a
6	chr1:215178854-215178904	NHDF-neo	bronchial:	n/a
7	chr1:215178854-215178904	ProgFib	skin:	n/a
8	chr1:215178854-215178904	IMR90	lung:	fetal
9	chr1:215178854-215178904	SAEC	small airway:	n/a
10	chr1:215178854-215178904	PrEC	prostate:	n/a
11	chr1:215178854-215178904	K562	blood:	n/a
12	chr1:215178854-215178904	U87	brain:	n/a
13	chr1:215178854-215178904	Caco-2	colon:	n/a
14	chr1:215178854-215178904	MCF10A-Er-Src	breast:	n/a
15	chr1:215178854-215178904	SK-N-SH	brain:	n/a
16	chr1:215178854-215178904	HMEC	breast:	n/a
17	chr1:215178854-215178904	GM19239	blood:	n/a
18	chr1:215178854-215178904	HCPEpiC	choroid plexus:	n/a
19	chr1:215178854-215178904	PANC-1	pancreas:	n/a
20	chr1:215178854-215178904	Hepatocyte	liver:	n/a
21	chr1:215178854-215178904	AG10803	skin:	n/a
22	chr1:215178854-215178904	GM06990	blood:	n/a
23	chr1:215178854-215178904	HAEpiC	amniotic membrane:	n/a
24	chr1:215178854-215178904	AG04449	skin:	fetal
25	chr1:215178854-215178904	HL-60	blood:	n/a
26	chr1:215178854-215178904	HRPEpiC	eye:	n/a
27	chr1:215178854-215178904	AG09319	gingival:	n/a
28	chr1:215178854-215178904	GM12892	blood:	n/a
29	chr1:215178854-215178904	Jurkat	blood:	n/a
30	chr1:215178854-215178904	HepG2	liver:	n/a
31	chr1:215178854-215178904	LNCaP	prostate:	n/a
32	chr1:215178854-215178904	RPTEC	kidney:	n/a
33	chr1:215178854-215178904	NT2-D1	testis:	n/a
34	chr1:215178854-215178904	AoSMC	blood vessel:	n/a
35	chr1:215178854-215178904	NH-A	brain:	n/a
36	chr1:215178854-215178904	HPAEpiC	pulmonary alveolar:	n/a
37	chr1:215178854-215178904	ovcar-3	ovarian:	n/a
38	chr1:215178854-215178904	H1-hESC	embryonic stem cell:	embryo
39	chr1:215178854-215178904	CMK	blood:	n/a
40	chr1:215178854-215178904	SK-N-MC	brain:	n/a
41	chr1:215178854-215178904	HCT-116	colon:	n/a
42	chr1:215178854-215178904	T-47D	breast:	n/a
43	chr1:215178854-215178904	PFSK-1	brain:	n/a
44	chr1:215178854-215178904	HEK293	kidney:	embryo
45	chr1:215178854-215178904	AG09309	skin:	n/a
46	chr1:215178854-215178904	HNPCEpiC	eye:	n/a
47	chr1:215178854-215178904	HCF	heart:	n/a
48	chr1:215178854-215178904	MCF-7	breast:	n/a
49	chr1:215178854-215178904	NB4	blood:	n/a
50	chr1:215178854-215178904	BJ	skin:	n/a

Variant related genes	Relation type
KCNK2	TF binding region
KCNK2	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs61819980	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72761545	1.00[AFR][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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215177200-215211200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:215177400-215179400	Enhancers	Fetal Muscle Leg	muscle
3	chr1:215177600-215179200	Enhancers	NHLF	lung
4	chr1:215178400-215179400	Enhancers	NH-A	brain
5	chr1:215178600-215179000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:215178600-215179200	Enhancers	HSMM	muscle
7	chr1:215178600-215179200	Flanking Active TSS	Osteobl	bone
8	chr1:215178600-215179400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:215178600-215179600	Enhancers	Adipose Nuclei	Adipose
10	chr1:215178600-215179600	Enhancers	Fetal Lung	lung
11	chr1:215178600-215179800	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr1:215178600-215180000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:215178600-215180000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:215178600-215181000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:215178800-215179000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:215178800-215179200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr1:215178800-215179200	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr1:215178800-215179200	Active TSS	HSMMtube	muscle
19	chr1:215178800-215179400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:215178800-215179400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:215178800-215179600	Flanking Active TSS	NHEK	skin
22	chr1:215178800-215180600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:215178800-215180800	Active TSS	NHDF-Ad	bronchial

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