Variant report

Variant	rs61925363
Chromosome Location	chr12:68376028-68376029
allele	C/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	chr12:68375870-68376301	SK-N-SH_RA	brain:	n/a	chr12:68376183-68376197
2	RXRA	chr12:68374892-68376398	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr12:68374783-68376454	SK-N-SH	brain:	n/a	n/a
4	EP300	chr12:68374942-68376349	SK-N-SH_RA	brain:	n/a	chr12:68376183-68376197
5	NFIC	chr12:68375637-68376392	SK-N-SH	brain:	n/a	n/a
6	JUND	chr12:68374781-68376391	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:68374899-68376364	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr12:68374747-68376444	SK-N-SH	brain:	n/a	n/a
9	FOXM1	chr12:68374877-68376403	SK-N-SH	brain:	n/a	n/a
10	MAX	chr12:68375923-68376383	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr12:68374816-68376495	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
12	GATA3	chr12:68375633-68376089	SH-SY5Y	brain:	n/a	chr12:68375660-68375668 chr12:68375936-68375943
13	YY1	chr12:68375916-68376311	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr12:68374726-68376409	SK-N-SH	brain:	n/a	chr12:68376183-68376197
15	PBX3	chr12:68374756-68376445	SK-N-SH	brain:	n/a	n/a
16	MAX	chr12:68375943-68376434	SK-N-SH	brain:	n/a	n/a
17	RXRA	chr12:68374892-68376032	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr12:68374665-68376549	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
19	JUND	chr12:68374839-68376425	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr12:68375967-68376316	SK-N-SH_RA	brain:	n/a	n/a
21	TAF1	chr12:68375997-68376269	PFSK-1	brain:	n/a	n/a
22	EP300	chr12:68374766-68376504	SK-N-SH	brain:	n/a	chr12:68376183-68376197
23	TEAD4	chr12:68374786-68376449	SK-N-SH	brain:	n/a	n/a
24	FOXM1	chr12:68374707-68376563	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr12:68374817-68376361	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr12:68374813-68376431	SK-N-SH	brain:	n/a	n/a
27	GATA2	chr12:68375620-68376300	SH-SY5Y	brain:	n/a	chr12:68375660-68375668 chr12:68375936-68375943
28	TCF12	chr12:68374718-68376577	SK-N-SH	brain:	n/a	chr12:68374979-68374986
29	TCF12	chr12:68373952-68376612	SK-N-SH	brain:	n/a	chr12:68374979-68374986

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68371732..68373949-chr12:68374658..68377015,2	K562	blood:

Variant related genes	Relation type
ENSG00000256835	TF binding region
ENSG00000256835	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55934813	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55969144	0.84[EUR][1000 genomes]
rs56236103	0.85[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68374600-68376200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:68374800-68376200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:68374800-68376200	Enhancers	NHEK	skin
4	chr12:68374800-68376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:68374800-68376400	Enhancers	Osteobl	bone
6	chr12:68375000-68376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:68375000-68376200	Enhancers	HSMM	muscle
8	chr12:68375000-68376400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:68375000-68376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:68375000-68376400	Enhancers	HMEC	breast
11	chr12:68375000-68376400	Enhancers	NHLF	lung
12	chr12:68375200-68376200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:68375400-68376200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:68375600-68376200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:68375800-68376400	Enhancers	NH-A	brain
16	chr12:68376000-68376200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:68376000-68376200	Flanking Active TSS	NHDF-Ad	bronchial

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