Variant report

Variant	rs561970322
Chromosome Location	chr1:57320327-57320328
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	HNF4A	chr1:57320124-57320750	HepG2	liver:	n/a	chr1:57320323-57320337 chr1:57320321-57320339 chr1:57320322-57320337 chr1:57320322-57320337
2	RAD21	chr1:57320038-57320820	HepG2	liver:	n/a	n/a
3	TBP	chr1:57320144-57320862	HepG2	liver:	n/a	n/a
4	HNF4G	chr1:57319994-57320583	HepG2	liver:	n/a	chr1:57320323-57320337 chr1:57320321-57320336 chr1:57319996-57320011 chr1:57319996-57320011 chr1:57320321-57320339 chr1:57320337-57320352 chr1:57320322-57320337 chr1:57319996-57320011
5	MYBL2	chr1:57319940-57320921	HepG2	liver:	n/a	n/a
6	MBD4	chr1:57320068-57320946	HepG2	liver:	n/a	n/a
7	NR2F2	chr1:57319989-57320792	HepG2	liver:	n/a	n/a
8	HNF4A	chr1:57320081-57320459	HepG2	liver:	n/a	chr1:57320323-57320337 chr1:57320321-57320339 chr1:57320322-57320337 chr1:57320322-57320337
9	EP300	chr1:57319998-57320908	HepG2	liver:	n/a	n/a
10	MXI1	chr1:57320216-57320758	HepG2	liver:	n/a	n/a
11	TEAD4	chr1:57319834-57320664	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:57320036-57321296	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:57319785-57320899	HepG2	liver:	n/a	n/a
14	FOXA1	chr1:57320014-57320882	HepG2	liver:	n/a	n/a
15	FOXA2	chr1:57319896-57320908	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:57319925-57320524	HepG2	liver:	n/a	chr1:57320038-57320055 chr1:57320039-57320050
17	RAD21	chr1:57320065-57320844	HepG2	liver:	n/a	n/a
18	HEY1	chr1:57320092-57321245	HepG2	liver:	n/a	n/a
19	EP300	chr1:57320116-57320737	HepG2	liver:	n/a	n/a
20	REST	chr1:57320239-57321110	H1-neurons	neurons:	n/a	n/a
21	MYBL2	chr1:57319821-57321018	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:57320058-57320761	HepG2	liver:	n/a	n/a
23	HNF4G	chr1:57320062-57320565	HepG2	liver:	n/a	chr1:57320323-57320337 chr1:57320321-57320336 chr1:57320321-57320339 chr1:57320337-57320352 chr1:57320322-57320337
24	RXRA	chr1:57320100-57320751	HepG2	liver:	n/a	n/a
25	TCF7L2	chr1:57319795-57320762	HepG2	liver:	n/a	n/a
26	NR2F2	chr1:57319867-57321052	HepG2	liver:	n/a	n/a
27	FOXA1	chr1:57320007-57320885	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:57320187-57320921	HepG2	liver:	n/a	n/a
29	RCOR1	chr1:57320295-57320723	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:57320306-57321231	HepG2	liver:	n/a	n/a
31	MAFK	chr1:57320178-57320555	HepG2	liver:	n/a	chr1:57320328-57320343
32	HDAC2	chr1:57320120-57320876	HepG2	liver:	n/a	chr1:57320283-57320297
33	FOXA1	chr1:57319970-57320945	HepG2	liver:	n/a	n/a
34	HDAC2	chr1:57320023-57320840	HepG2	liver:	n/a	chr1:57320283-57320297
35	SMC3	chr1:57319938-57320762	HepG2	liver:	n/a	n/a
36	NFIC	chr1:57319934-57321019	HepG2	liver:	n/a	n/a
37	MYC	chr1:57320327-57320367	HepG2	liver:	n/a	n/a
38	HEY1	chr1:57320302-57320901	HepG2	liver:	n/a	n/a
39	SP1	chr1:57319918-57320910	HepG2	liver:	n/a	n/a
40	NFIC	chr1:57320063-57320971	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:57320212-57320953	HepG2	liver:	n/a	n/a
42	FOXA2	chr1:57319818-57320818	HepG2	liver:	n/a	n/a
43	EP300	chr1:57319821-57320891	HepG2	liver:	n/a	n/a
44	MBD4	chr1:57320094-57320913	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
C8A	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
2	nsv508215	chr1:57319460-57351150	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57316600-57323200	Enhancers	Fetal Intestine Small	intestine
2	chr1:57319000-57320400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:57320000-57320400	Flanking Active TSS	HepG2	liver
4	chr1:57320200-57320600	Enhancers	Stomach Mucosa	stomach
5	chr1:57320200-57321200	Enhancers	Fetal Intestine Large	intestine
6	chr1:57320200-57324000	Active TSS	Liver	Liver

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