Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:20526650-20537070	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr12:20527701-20528051	Hela-S3	cervix:	n/a	n/a
3	TBP	chr12:20527211-20528094	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr12:20527753-20528077	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:20527586-20528149	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr12:20527897-20527942	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:20527650-20528075	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr12:20527777-20528130	Hela-S3	cervix:	n/a	n/a
9	RCOR1	chr12:20527361-20528075	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:20527691-20528024	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr12:20527760-20528048	Hela-S3	cervix:	n/a	n/a
12	JUN	chr12:20527745-20528063	HUVEC	blood vessel:	n/a	chr12:20527825-20527833
13	MAX	chr12:20527288-20528077	Hela-S3	cervix:	n/a	n/a
14	IRF3	chr12:20527751-20528105	Hela-S3	cervix:	n/a	n/a
15	ELK4	chr12:20527769-20528114	Hela-S3	cervix:	n/a	chr12:20527917-20527928
16	POLR2A	chr12:20526429-20529539	Hela-S3	cervix:	n/a	n/a
17	ELK1	chr12:20527766-20528030	Hela-S3	cervix:	n/a	n/a
18	STAT3	chr12:20527489-20528073	Hela-S3	cervix:	n/a	n/a
19	GATA2	chr12:20527406-20528099	HUVEC	blood vessel:	n/a	chr12:20527894-20527903
20	CEBPB	chr12:20527327-20528083	Hela-S3	cervix:	n/a	chr12:20527519-20527536 chr12:20527578-20527590
21	FOS	chr12:20527709-20528118	HUVEC	blood vessel:	n/a	chr12:20527825-20527833
22	POLR2A	chr12:20525145-20531578	Hela-S3	cervix:	n/a	n/a
23	EP300	chr12:20527741-20528051	Hela-S3	cervix:	n/a	chr12:20527957-20527967 chr12:20527919-20527926

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:27527515..27528461-chr12:20527412..20528286,2	Hela-S3	cervix:

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10743367	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770645	0.86[ASN][1000 genomes]
rs1348582	0.89[ASN][1000 genomes]
rs1530446	0.82[AFR][1000 genomes]
rs1899908	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20520400-20528800	Active TSS	Right Atrium	heart
2	chr12:20520600-20530400	Active TSS	Right Ventricle	heart
3	chr12:20521000-20528000	Active TSS	Stomach Smooth Muscle	stomach
4	chr12:20523400-20529200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:20524400-20528000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:20524600-20530000	Weak transcription	Colonic Mucosa	Colon
7	chr12:20525600-20531400	Weak transcription	Osteobl	bone
8	chr12:20525600-20543000	Weak transcription	NHDF-Ad	bronchial
9	chr12:20526200-20528000	Enhancers	A549	lung
10	chr12:20526400-20531600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:20526400-20537600	Weak transcription	Fetal Stomach	stomach
12	chr12:20526600-20536800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:20526800-20528400	Active TSS	Hela-S3	cervix
14	chr12:20526800-20528600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:20526800-20530000	Enhancers	Fetal Intestine Small	intestine
16	chr12:20526800-20541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:20527400-20528000	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:20527400-20530000	Enhancers	Fetal Intestine Large	intestine
19	chr12:20527800-20528000	Flanking Active TSS	Aorta	Aorta
20	chr12:20527800-20528000	Flanking Active TSS	Left Ventricle	heart
21	chr12:20527800-20529200	Enhancers	HUVEC	blood vessel
22	chr12:20527800-20530000	Enhancers	Pancreatic Islets	Pancreatic Islet

Quick Search: