Variant report

Variant	rs10779632
Chromosome Location	chr1:215178483-215178484
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	GATA3	chr1:215178405-215178806	T-47D	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
2	MAX	chr1:215178409-215178910	SK-N-SH	brain:	n/a	n/a
3	NFIC	chr1:215177759-215178931	SK-N-SH	brain:	n/a	chr1:215178595-215178611
4	JUND	chr1:215177531-215179055	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr1:215177263-215179503	SK-N-SH	brain:	n/a	chr1:215178595-215178611
6	EP300	chr1:215177121-215179036	SK-N-SH	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
7	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
8	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
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	POLR2A	chr1:215178442-215178796	SK-N-SH	brain:	n/a	n/a
15	TCF12	chr1:215177258-215179099	SK-N-SH	brain:	n/a	n/a
16	RAD21	chr1:215178442-215178844	SK-N-SH_RA	brain:	n/a	n/a
17	TCF7L2	chr1:215177885-215179318	HEK293	kidney:	n/a	chr1:215179223-215179237 chr1:215178766-215178775 chr1:215179222-215179238 chr1:215179222-215179238
18	MAX	chr1:215178424-215179370	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr1:215177461-215179302	SK-N-SH	brain:	n/a	n/a
20	EP300	chr1:215178374-215178852	SK-N-SH_RA	brain:	n/a	n/a
21	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
22	FOXM1	chr1:215177607-215179327	SK-N-SH	brain:	n/a	n/a
23	YY1	chr1:215178455-215178838	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr1:215178393-215178710	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
25	MEF2A	chr1:215178251-215178929	SK-N-SH	brain:	n/a	chr1:215178702-215178717 chr1:215178704-215178715
26	PBX3	chr1:215177125-215178912	SK-N-SH	brain:	n/a	n/a
27	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
28	EP300	chr1:215177501-215179088	SK-N-SH	brain:	n/a	n/a
29	FOSL2	chr1:215177680-215179205	SK-N-SH	brain:	n/a	n/a
30	JUND	chr1:215177410-215178959	SK-N-SH	brain:	n/a	n/a
31	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
32	KAP1	chr1:215178121-215178960	U2OS	brain:	n/a	n/a
33	EP300	chr1:215177056-215178799	SK-N-SH_RA	brain:	n/a	chr1:215177436-215177443 chr1:215177155-215177169
34	TEAD4	chr1:215177601-215179003	SK-N-SH	brain:	n/a	n/a
35	TCF12	chr1:215177195-215179578	SK-N-SH	brain:	n/a	n/a

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: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10429947	0.86[CHB][hapmap]
rs12023861	0.86[CHB][hapmap]
rs12025006	0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12047560	0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs1349672	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1452633	0.87[CHB][hapmap];0.85[CHD][hapmap]
rs1452634	1.00[CHB][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs2601652	0.83[ASN][1000 genomes]
rs2841623	0.83[ASN][1000 genomes]
rs544535	0.83[ASN][1000 genomes]
rs575747	0.82[ASN][1000 genomes]
rs6659170	0.83[ASN][1000 genomes]
rs7538655	0.86[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10779632	DTL	cis	cerebellum	SCAN

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

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

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