Variant report

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:56053420-56053570	HVMF	connective:	n/a	n/a
2	TBL1XR1	chr12:56053280-56053532	K562	blood:	n/a	n/a
3	CTCF	chr12:56053180-56054468	A549	lung:	n/a	n/a
4	TEAD4	chr12:56053235-56053865	K562	blood:	n/a	n/a
5	JUND	chr12:56053278-56053540	K562	blood:	n/a	n/a
6	EP300	chr12:56053299-56053487	K562	blood:	n/a	n/a
7	CTCF	chr12:56053446-56054032	HCT-116	colon:	n/a	n/a
8	SMC3	chr12:56053148-56053965	SK-N-SH	brain:	n/a	n/a
9	BHLHE40	chr12:56053432-56053504	K562	blood:	n/a	n/a
10	RCOR1	chr12:56053363-56053486	K562	blood:	n/a	n/a
11	IRF1	chr12:56053248-56053490	K562	blood:	n/a	n/a
12	ATF1	chr12:56053242-56053640	K562	blood:	n/a	n/a
13	CTCF	chr12:56053319-56054098	SK-N-SH	brain:	n/a	n/a
14	RAD21	chr12:56053334-56054269	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56052433..56055295-chr12:56110184..56112176,2	MCF-7	breast:
2	chr12:56050760..56053570-chr12:56121804..56125150,4	MCF-7	breast:
3	chr12:56053257..56054156-chr12:56114472..56115116,4	MCF-7	breast:

No data

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

rs_ID	r²[population]
rs2694010	1.00[AMR][1000 genomes]
rs58651868	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv983332	chr12:56053056-56058855	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56049800-56054200	Enhancers	Fetal Intestine Small	intestine
2	chr12:56050000-56053600	Enhancers	Fetal Intestine Large	intestine
3	chr12:56051400-56054400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:56052200-56053800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:56052600-56053600	Enhancers	HSMMtube	muscle
6	chr12:56052600-56053800	Enhancers	Psoas Muscle	Psoas
7	chr12:56052600-56053800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr12:56052600-56054200	Enhancers	Rectal Smooth Muscle	rectum
9	chr12:56052800-56053800	Enhancers	Ovary	ovary
10	chr12:56052800-56054200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:56053000-56053600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:56053000-56053600	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:56053000-56053800	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:56053000-56053800	Enhancers	Osteobl	bone
15	chr12:56053200-56053600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:56053200-56053600	Flanking Active TSS	Fetal Heart	heart
17	chr12:56053200-56053600	Flanking Active TSS	K562	blood
18	chr12:56053200-56053800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:56053400-56053800	Enhancers	Left Ventricle	heart
20	chr12:56053400-56053800	Flanking Active TSS	HSMM	muscle

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