Variant report

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr20:52689609-52689842	HepG2	liver:	n/a	n/a
2	FOSL2	chr20:52689223-52689865	HepG2	liver:	n/a	n/a
3	GABPA	chr20:52689574-52689864	Hela-S3	cervix:	n/a	n/a
4	GABPA	chr20:52689423-52689840	GM12878	blood:	n/a	n/a
5	PAX5	chr20:52689306-52689881	GM12878	blood:	n/a	n/a
6	IRF4	chr20:52689207-52689888	GM12878	blood:	n/a	n/a
7	ZBTB33	chr20:52689369-52689841	GM12878	blood:	n/a	n/a
8	SRF	chr20:52689295-52689841	GM12878	blood:	n/a	n/a
9	EBF1	chr20:52689422-52689851	GM12878	blood:	n/a	n/a
10	SP1	chr20:52689480-52689868	GM12878	blood:	n/a	n/a
11	EGR1	chr20:52689411-52689864	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56734557..56739323-chr20:52682038..52691817,18	MCF-7	breast:
2	chr20:52610588..52612438-chr20:52687506..52690025,2	MCF-7	breast:
3	chr1:92763250..92765848-chr20:52689571..52691087,2	MCF-7	breast:
4	chr20:45985585..45987511-chr20:52689631..52691530,2	MCF-7	breast:
5	chr17:56769193..56771346-chr20:52687697..52690270,2	MCF-7	breast:
6	chr20:52682462..52684179-chr20:52688972..52691776,2	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:7)

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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
3	nsv912944	chr20:52681759-52693614	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs290396	BCAS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52687200-52691600	Weak transcription	Gastric	stomach
2	chr20:52687400-52690000	Weak transcription	Fetal Intestine Large	intestine
3	chr20:52687400-52690400	Weak transcription	Fetal Intestine Small	intestine
4	chr20:52687400-52694000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:52687600-52691200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr20:52688000-52690000	Weak transcription	HepG2	liver
7	chr20:52688400-52690000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr20:52688600-52690000	Weak transcription	Stomach Mucosa	stomach

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