Variant report

Variant	rs28478863
Chromosome Location	chr2:110552127-110552128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:76)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:76 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr2:110551650-110552138	A549	lung:	n/a	n/a
2	RXRA	chr2:110551676-110552154	HepG2	liver:	n/a	n/a
3	TAF1	chr2:110551719-110552148	A549	lung:	n/a	n/a
4	FOXP2	chr2:110551743-110552410	SK-N-MC	brain:	n/a	n/a
5	FOSL2	chr2:110551594-110552861	HepG2	liver:	n/a	chr2:110552343-110552352 chr2:110552434-110552448
6	POLR2A	chr2:110551987-110552129	A549	lung:	n/a	n/a
7	POLR2A	chr2:110551762-110552165	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOSL2	chr2:110551676-110552143	HepG2	liver:	n/a	n/a
9	TAF1	chr2:110551711-110552152	Hela-S3	cervix:	n/a	n/a
10	YY1	chr2:110552113-110552516	A549	lung:	n/a	chr2:110552341-110552352
11	HEY1	chr2:110551717-110552152	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:110551689-110552163	H1-hESC	embryonic stem cell:	n/a	n/a
13	POU2F2	chr2:110551719-110552276	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:110551686-110552910	GM12892	blood:	n/a	n/a
15	TCF12	chr2:110551626-110552167	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:110551714-110552861	Hela-S3	cervix:	n/a	n/a
17	HEY1	chr2:110551628-110552859	HepG2	liver:	n/a	chr2:110552332-110552347
18	POLR2A	chr2:110551597-110552946	GM12892	blood:	n/a	n/a
19	POLR2A	chr2:110551685-110552775	A549	lung:	n/a	n/a
20	POLR2A	chr2:110551757-110552496	A549	lung:	n/a	n/a
21	TAF1	chr2:110551680-110552921	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:110552055-110552247	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr2:110551823-110552160	Gliobla	brain:	n/a	n/a
24	JUND	chr2:110551715-110552192	A549	lung:	n/a	n/a
25	TAF1	chr2:110551685-110552159	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3AK20	chr2:110551626-110552141	SK-N-SH	brain:	n/a	n/a
27	SP1	chr2:110551623-110552159	A549	lung:	n/a	n/a
28	POLR2A	chr2:110551668-110552897	GM12892	blood:	n/a	n/a
29	POLR2A	chr2:110551725-110552661	A549	lung:	n/a	n/a
30	POLR2A	chr2:110551680-110552817	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr2:110551622-110552146	PANC-1	pancreas:	n/a	n/a
32	POLR2A	chr2:110552095-110552130	MCF-7	breast:	n/a	n/a
33	NR3C1	chr2:110551569-110552139	A549	lung:	n/a	n/a
34	POLR2A	chr2:110551581-110553024	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:110551714-110552903	GM12878	blood:	n/a	n/a
36	TAF1	chr2:110551700-110552824	HepG2	liver:	n/a	n/a
37	TAF1	chr2:110551746-110552801	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:110551657-110552314	U87	brain:	n/a	n/a
39	RXRA	chr2:110551588-110552683	HepG2	liver:	n/a	n/a
40	PAX5	chr2:110551630-110552875	GM12878	blood:	n/a	chr2:110552362-110552371
41	SP1	chr2:110551628-110552164	GM12878	blood:	n/a	n/a
42	PAX5	chr2:110551661-110552144	GM12878	blood:	n/a	n/a
43	REST	chr2:110551715-110552147	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr2:110551672-110552365	SK-N-MC	brain:	n/a	n/a
45	JUND	chr2:110551727-110552145	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:110551652-110552154	SK-N-SH	brain:	n/a	n/a
47	IRF4	chr2:110551598-110552148	GM12878	blood:	n/a	n/a
48	TCF3	chr2:110551682-110552799	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:110551702-110552170	GM12891	blood:	n/a	n/a
50	NR3C1	chr2:110551696-110552150	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
RGPD5	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv491837	chr2:110381297-110964737	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999552	chr2:110396395-110978224	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428061	chr2:110423940-110714002	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	esv2751812	chr2:110457214-110980346	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1011653	chr2:110461521-110978224	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	esv3417244	chr2:110462513-110594911	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3369179	chr2:110462513-110609311	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3419776	chr2:110462963-110559761	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv874781	chr2:110463288-110804164	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	nsv874782	chr2:110463288-111334482	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
15	nsv874783	chr2:110498943-110886142	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv1013901	chr2:110501500-110983669	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1003103	chr2:110504334-111084885	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
18	nsv874784	chr2:110524250-110829655	Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
19	nsv874785	chr2:110524250-110843108	Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
20	nsv874786	chr2:110524250-110857243	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
21	nsv874787	chr2:110524250-111334482	Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
22	nsv963833	chr2:110547401-110553131	Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
23	nsv963690	chr2:110547996-110553189	Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
24	nsv979088	chr2:110547996-110627162	Active TSS	TF binding region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
25	esv3414354	chr2:110551187-110553847	Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110552000-110552400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr2:110552000-110552400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:110552000-110552400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:110552000-110552400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:110552000-110552400	Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr2:110552000-110552400	Active TSS	Left Ventricle	heart
7	chr2:110552000-110552400	Active TSS	Ovary	ovary
8	chr2:110552000-110552400	Active TSS	Psoas Muscle	Psoas
9	chr2:110552000-110552400	Active TSS	Right Atrium	heart
10	chr2:110552000-110552400	Active TSS	Right Ventricle	heart
11	chr2:110552000-110552400	Active TSS	Thymus	Thymus
12	chr2:110552000-110552400	Active TSS	HMEC	breast
13	chr2:110552000-110552400	Active TSS	HSMM	muscle

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