Variant report

Variant	esv3439355
Chromosome Location	chr5:77943421-77945969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:584)
CpG islands
(count:551)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:77943837-77943868	HepG2	liver:	n/a	n/a
2	BACH1	chr5:77943329-77944203	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr5:77943622-77943980	GM12878	blood:	n/a	chr5:77943877-77943886
4	BCLAF1	chr5:77943246-77944248	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944068-77944081 chr5:77944068-77944081
5	BCLAF1	chr5:77943183-77944315	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944281-77944294 chr5:77944068-77944081 chr5:77944068-77944081
6	BHLHE40	chr5:77944778-77944985	GM12878	blood:	n/a	chr5:77944890-77944906 chr5:77944895-77944911
7	BHLHE40	chr5:77943290-77943993	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:77944357-77944668	HepG2	liver:	n/a	n/a
9	BHLHE40	chr5:77943801-77943895	K562	blood:	n/a	n/a
10	BRCA1	chr5:77943784-77944110	Hela-S3	cervix:	n/a	n/a
11	CCNT2	chr5:77943698-77945144	K562	blood:	n/a	n/a
12	CEBPB	chr5:77944302-77944476	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:77943605-77943692	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:77943833-77944035	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr5:77944264-77944761	HepG2	liver:	n/a	n/a
16	CHD1	chr5:77944075-77944256	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr5:77945675-77946014	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr5:77944979-77945152	GM12878	blood:	n/a	n/a
19	CHD1	chr5:77943257-77944553	GM12878	blood:	n/a	n/a
20	CHD1	chr5:77943445-77943775	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr5:77945063-77945402	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
23	CHD2	chr5:77943828-77944774	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr5:77945707-77946074	H1-hESC	embryonic stem cell:	n/a	chr5:77946020-77946030
25	CHD2	chr5:77944340-77945022	GM12878	blood:	n/a	n/a
26	CHD2	chr5:77945965-77946157	HepG2	liver:	n/a	chr5:77946020-77946030
27	CHD2	chr5:77944483-77944673	HepG2	liver:	n/a	n/a
28	CHD2	chr5:77944946-77944949	HepG2	liver:	n/a	n/a
29	CHD2	chr5:77944170-77944205	HepG2	liver:	n/a	n/a
30	CHD2	chr5:77943939-77944073	GM12878	blood:	n/a	n/a
31	CREB1	chr5:77944031-77945157	A549	lung:	n/a	n/a
32	CREB1	chr5:77943166-77943528	A549	lung:	n/a	n/a
33	CTBP2	chr5:77945603-77946019	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr5:77943776-77945110	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr5:77943906-77944086	GM19239	blood:	n/a	n/a
36	CTCF	chr5:77943940-77944090	GM12873	blood:	n/a	n/a
37	CTCF	chr5:77945700-77945850	HepG2	liver:	n/a	n/a
38	CTCF	chr5:77943980-77944130	Caco-2	colon:	n/a	n/a
39	CTCF	chr5:77944371-77944408	Fibrobl	skin:	n/a	n/a
40	CTCF	chr5:77944137-77944138	Fibrobl	skin:	n/a	n/a
41	CTCF	chr5:77944280-77944430	AG04449	skin:	n/a	n/a
42	CTCF	chr5:77943840-77943990	HMEC	breast:	n/a	chr5:77943896-77943906
43	CTCF	chr5:77943922-77944113	GM12891	blood:	n/a	n/a
44	CTCF	chr5:77943660-77943810	RPTEC	kidney:	n/a	n/a
45	CTCF	chr5:77944040-77944190	HEEpiC	esophagus:	n/a	n/a
46	CTCF	chr5:77945180-77945330	HMF	breast:	n/a	n/a
47	CTCF	chr5:77943960-77944110	BJ	skin:	n/a	n/a
48	CTCF	chr5:77943940-77944090	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr5:77943960-77944230	HepG2	liver:	n/a	n/a
50	CTCF	chr5:77943880-77944030	GM12875	blood:	n/a	chr5:77943896-77943906

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:77945739-77945789	HEK293	kidney:	embryo
2	chr5:77945178-77945228	GM19239	blood:	n/a
3	chr5:77945739-77945789	HEK293	kidney:	embryo
4	chr5:77945178-77945228	GM19239	blood:	n/a
5	chr5:77945347-77945397	BE2_C	brain:	n/a
6	chr5:77945739-77945789	HCM	heart:	n/a
7	chr5:77943869-77943919	HUVEC	blood vessel:	n/a
8	chr5:77944343-77944393	HIPEpiC	eye:	n/a
9	chr5:77944343-77944393	Jurkat	blood:	n/a
10	chr5:77945347-77945397	AG10803	skin:	n/a
11	chr5:77944851-77944901	HAEpiC	amniotic membrane:	n/a
12	chr5:77945347-77945397	MCF10A-Er-Src	breast:	n/a
13	chr5:77943869-77943919	A549	lung:	n/a
14	chr5:77945178-77945228	GM06990	blood:	n/a
15	chr5:77945347-77945397	IMR90	lung:	fetal
16	chr5:77945347-77945397	SK-N-MC	brain:	n/a
17	chr5:77945178-77945228	Jurkat	blood:	n/a
18	chr5:77943786-77943836	SKMC	muscle:	n/a
19	chr5:77943417-77943467	NH-A	brain:	n/a
20	chr5:77945347-77945397	Jurkat	blood:	n/a
21	chr5:77943786-77943836	Hepatocyte	liver:	n/a
22	chr5:77945739-77945789	A549	lung:	n/a
23	chr5:77945219-77945269	PrEC	prostate:	n/a
24	chr5:77944343-77944393	NHDF-neo	bronchial:	n/a
25	chr5:77944851-77944901	SK-N-SH_RA	brain:	n/a
26	chr5:77945178-77945228	RPTEC	kidney:	n/a
27	chr5:77945739-77945789	NHDF-neo	bronchial:	n/a
28	chr5:77943786-77943836	HAEpiC	amniotic membrane:	n/a
29	chr5:77945347-77945397	PFSK-1	brain:	n/a
30	chr5:77945347-77945397	ECC-1	luminal epithelium:	n/a
31	chr5:77945219-77945269	GM19239	blood:	n/a
32	chr5:77944343-77944393	SAEC	small airway:	n/a
33	chr5:77943786-77943836	HUVEC	blood vessel:	n/a
34	chr5:77945178-77945228	AG04450	lung:	fetal
35	chr5:77943417-77943467	HRE	kidney:	n/a
36	chr5:77943417-77943467	PANC-1	pancreas:	n/a
37	chr5:77944343-77944393	BE2_C	brain:	n/a
38	chr5:77945739-77945789	NH-A	brain:	n/a
39	chr5:77944851-77944901	ECC-1	luminal epithelium:	n/a
40	chr5:77943417-77943467	HCF	heart:	n/a
41	chr5:77945219-77945269	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:77943417-77943467	HNPCEpiC	eye:	n/a
43	chr5:77943786-77943836	AG09319	gingival:	n/a
44	chr5:77943786-77943836	U87	brain:	n/a
45	chr5:77944343-77944393	HNPCEpiC	eye:	n/a
46	chr5:77944343-77944393	NB4	blood:	n/a
47	chr5:77944343-77944393	NT2-D1	testis:	n/a
48	chr5:77943417-77943467	GM06990	blood:	n/a
49	chr5:77943417-77943467	HCT-116	colon:	n/a
50	chr5:77943417-77943467	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr5:77943376..77944358-chr9:107509480..107510026,2	Hela-S3	cervix:
2	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:
3	chr5:77945458..77947369-chr5:77973307..77975636,2	K562	blood:
4	chr5:77935628..77937313-chr5:77945519..77948138,2	MCF-7	breast:
5	chr5:77945339..77947011-chr5:77970962..77972578,2	K562	blood:
6	chr5:77944860..77948164-chr5:77958771..77961486,4	MCF-7	breast:
7	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
8	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:

No data

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
HMGB1P21	CpG island
LHFPL2	CpG island
ENSG00000145685	chromatin interactions
ENSG00000136783	chromatin interactions
ENSG00000248909	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543860293	chr5:77943455-77943456	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs560648834	chr5:77943486-77943487	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs183505506	chr5:77943514-77943515	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs145254211	chr5:77943544-77943545	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs560206946	chr5:77943589-77943590	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs147637583	chr5:77943623-77943624	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs549898319	chr5:77943681-77943682	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs551808167	chr5:77943683-77943684	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs571621058	chr5:77943694-77943695	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs530923990	chr5:77943713-77943714	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs115831873	chr5:77943720-77943721	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs569807039	chr5:77943753-77943754	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs140899075	chr5:77943796-77943797	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs536475061	chr5:77943859-77943860	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs553504941	chr5:77943905-77943906	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs567069559	chr5:77943942-77943943	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs538906943	chr5:77943952-77943953	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs558136099	chr5:77943970-77943971	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs546907015	chr5:77943981-77943982	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs374796105	chr5:77944019-77944020	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs543787730	chr5:77944020-77944021	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs554392195	chr5:77944029-77944030	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs574444176	chr5:77944104-77944105	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs540066807	chr5:77944121-77944122	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs560252999	chr5:77944203-77944204	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs532306667	chr5:77944217-77944218	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs546165892	chr5:77944218-77944219	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs562760893	chr5:77944284-77944285	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs150087159	chr5:77944305-77944306	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs550972423	chr5:77944339-77944340	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs561249055	chr5:77944348-77944349	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs530175870	chr5:77944413-77944414	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546890036	chr5:77944414-77944415	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs567009231	chr5:77944417-77944418	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs559274490	chr5:77944418-77944419	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552495149	chr5:77944433-77944434	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs569183929	chr5:77944556-77944557	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs537468610	chr5:77944614-77944615	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs341924	chr5:77944618-77944619	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112451911	chr5:77944653-77944654	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs574457307	chr5:77944761-77944762	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs533836033	chr5:77944823-77944824	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553582280	chr5:77944828-77944829	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs577149354	chr5:77944834-77944835	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs546005529	chr5:77944851-77944852	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs549578968	chr5:77944856-77944857	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs562799085	chr5:77944905-77944906	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs576377517	chr5:77944974-77944975	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544295923	chr5:77945022-77945023	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs561296799	chr5:77945077-77945078	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77941600-77945200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:77941800-77943600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr5:77942000-77943600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:77942000-77943600	Flanking Active TSS	Fetal Lung	lung
5	chr5:77942200-77945000	Active TSS	GM12878-XiMat	blood
6	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
7	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr5:77942400-77943600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr5:77942400-77943800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:77942600-77943600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr5:77942600-77943600	Flanking Active TSS	HUVEC	blood vessel
15	chr5:77942600-77943600	Flanking Active TSS	NH-A	brain
16	chr5:77942600-77943800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:77942600-77943800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:77942600-77943800	Flanking Active TSS	Fetal Brain Female	brain
19	chr5:77942600-77943800	Flanking Active TSS	Osteobl	bone
20	chr5:77942600-77944000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr5:77942600-77944000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
24	chr5:77942600-77945400	Active TSS	Aorta	Aorta
25	chr5:77942600-77945400	Active TSS	Ovary	ovary
26	chr5:77942800-77943600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:77942800-77943600	Weak transcription	Small Intestine	intestine
28	chr5:77942800-77943800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:77942800-77944000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr5:77942800-77945000	Active TSS	HMEC	breast
31	chr5:77942800-77945200	Active TSS	HSMM	muscle
32	chr5:77942800-77945200	Active TSS	NHLF	lung
33	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
37	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr5:77943000-77943600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr5:77943000-77943600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr5:77943000-77943600	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr5:77943000-77943600	Flanking Active TSS	Left Ventricle	heart
44	chr5:77943000-77943800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr5:77943000-77943800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
46	chr5:77943000-77943800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:77943000-77943800	Active TSS	Right Atrium	heart
48	chr5:77943000-77943800	Flanking Active TSS	Hela-S3	cervix
49	chr5:77943000-77944000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:77943000-77944000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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