Variant report

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:83544122-83544602	K562	blood:	n/a	n/a
2	POLR2A	chr12:83544071-83544623	K562	blood:	n/a	n/a
3	RCOR1	chr12:83544248-83545013	K562	blood:	n/a	n/a
4	ARID3A	chr12:83543919-83544914	K562	blood:	n/a	n/a
5	POLR2A	chr12:83544152-83544613	K562	blood:	n/a	n/a
6	TEAD4	chr12:83544153-83545129	K562	blood:	n/a	n/a
7	CEBPD	chr12:83544205-83545050	K562	blood:	n/a	n/a
8	EGR1	chr12:83544299-83544546	K562	blood:	n/a	chr12:83544418-83544440
9	PML	chr12:83544033-83544649	K562	blood:	n/a	n/a
10	POLR2A	chr12:83544053-83544627	K562	blood:	n/a	n/a
11	ZMIZ1	chr12:83544264-83544540	K562	blood:	n/a	n/a
12	CEBPD	chr12:83544238-83545032	K562	blood:	n/a	n/a
13	EGR1	chr12:83544263-83544549	K562	blood:	n/a	chr12:83544418-83544440
14	BCLAF1	chr12:83544132-83544573	K562	blood:	n/a	n/a
15	BCLAF1	chr12:83544125-83544611	K562	blood:	n/a	n/a
16	POLR2A	chr12:83544127-83544566	K562	blood:	n/a	n/a
17	POLR2A	chr12:83544154-83544528	K562	blood:	n/a	n/a
18	PML	chr12:83544017-83545040	K562	blood:	n/a	n/a
19	HEY1	chr12:83544198-83544557	K562	blood:	n/a	n/a
20	TBP	chr12:83544285-83544699	K562	blood:	n/a	n/a
21	TAF7	chr12:83544211-83544657	K562	blood:	n/a	n/a
22	TBL1XR1	chr12:83544263-83545075	K562	blood:	n/a	n/a
23	TAL1	chr12:83543885-83545096	K562	blood:	n/a	n/a
24	CCNT2	chr12:83544274-83544770	K562	blood:	n/a	n/a
25	TEAD4	chr12:83544245-83545035	K562	blood:	n/a	n/a
26	HEY1	chr12:83544017-83544554	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83544204..83547300-chr12:83565294..83568288,4	K562	blood:
2	chr12:83542565..83545008-chr12:83566532..83568731,2	K562	blood:
3	chr12:83542880..83544504-chr12:83556939..83559437,2	K562	blood:
4	chr12:83531135..83533652-chr12:83540992..83544898,3	K562	blood:

No data

Variant related genes	Relation type
RPL6P25	TF binding region
ENSG00000258338	Chromatin interaction

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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv973097	chr12:83544133-83545969	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83540000-83544800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83543400-83545000	Enhancers	K562	blood
3	chr12:83543600-83548400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:83543800-83548200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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