Variant report

Variant	esv2758013
Chromosome Location	chr5:117664725-117942247
allele	n/a
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	ARID3A	chr5:117884442-117884668	HepG2	liver:	n/a	n/a
2	BATF	chr5:117753305-117753649	GM12878	blood:	n/a	n/a
3	BATF	chr5:117753385-117753613	GM12878	blood:	n/a	n/a
4	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:117934828-117934953	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
8	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:117783863-117784175	A549	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
11	CEBPB	chr5:117783921-117784179	Hela-S3	cervix:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
12	CEBPB	chr5:117670911-117671221	IMR90	lung:	n/a	chr5:117671060-117671071
13	CEBPB	chr5:117932289-117932583	A549	lung:	n/a	n/a
14	CEBPB	chr5:117884508-117884707	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
15	CEBPB	chr5:117797944-117798299	HepG2	liver:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
16	CEBPB	chr5:117932234-117932584	HepG2	liver:	n/a	n/a
17	CEBPB	chr5:117689722-117689920	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr5:117884363-117884907	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
19	CEBPB	chr5:117783848-117784184	HepG2	liver:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
20	CEBPB	chr5:117884333-117884820	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
21	CEBPB	chr5:117797959-117798295	Hela-S3	cervix:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
22	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
23	CEBPB	chr5:117884404-117884771	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
24	CEBPB	chr5:117898330-117898641	IMR90	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
25	CEBPB	chr5:117898380-117898661	K562	blood:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
26	CEBPB	chr5:117767168-117767318	HepG2	liver:	n/a	n/a
27	CEBPB	chr5:117884538-117884752	A549	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
28	CEBPB	chr5:117797913-117798203	MCF-7	breast:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
29	CEBPB	chr5:117889409-117889983	IMR90	lung:	n/a	chr5:117889970-117889981 chr5:117889559-117889576 chr5:117889970-117889983 chr5:117889970-117889981
30	CEBPB	chr5:117884396-117884796	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
31	CEBPB	chr5:117898345-117898611	Hela-S3	cervix:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
32	CEBPB	chr5:117797997-117798221	ECC-1	luminal epithelium:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
33	CEBPB	chr5:117884403-117884809	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
34	CEBPB	chr5:117797944-117798311	A549	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
35	CEBPB	chr5:117884451-117884780	IMR90	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
36	CEBPB	chr5:117893153-117893464	HepG2	liver:	n/a	chr5:117893294-117893305
37	CEBPB	chr5:117783854-117784181	IMR90	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
38	CEBPB	chr5:117884446-117884760	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
39	CEBPB	chr5:117797940-117798316	IMR90	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
40	CEBPB	chr5:117670935-117671234	HepG2	liver:	n/a	chr5:117671060-117671071
41	CEBPB	chr5:117797934-117798312	H1-hESC	embryonic stem cell:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
42	CEBPB	chr5:117670914-117671189	A549	lung:	n/a	chr5:117671060-117671071
43	CEBPB	chr5:117898339-117898607	H1-hESC	embryonic stem cell:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
44	CEBPB	chr5:117898306-117898626	HepG2	liver:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
45	CEBPB	chr5:117797999-117798207	ECC-1	luminal epithelium:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
46	CEBPB	chr5:117898360-117898614	MCF-7	breast:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
47	CEBPB	chr5:117898314-117898635	A549	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
48	CEBPB	chr5:117797945-117798318	K562	blood:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
49	CEBPD	chr5:117884545-117884701	HepG2	liver:	n/a	chr5:117884575-117884586
50	CHD1	chr5:117838723-117838816	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117822219-117822269	SKMC	muscle:	n/a
2	chr5:117786381-117786431	Caco-2	colon:	n/a
3	chr5:117786381-117786431	Hela-S3	cervix:	n/a
4	chr5:117822219-117822269	HRPEpiC	eye:	n/a
5	chr5:117822219-117822269	GM12878	blood:	n/a
6	chr5:117786381-117786431	K562	blood:	n/a
7	chr5:117786381-117786431	HepG2	liver:	n/a
8	chr5:117822219-117822269	MCF10A-Er-Src	breast:	n/a
9	chr5:117786381-117786431	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:117822219-117822269	BE2_C	brain:	n/a
11	chr5:117786381-117786431	ProgFib	skin:	n/a
12	chr5:117822219-117822269	LNCaP	prostate:	n/a
13	chr5:117822219-117822269	HCF	heart:	n/a
14	chr5:117786381-117786431	HRE	kidney:	n/a
15	chr5:117822219-117822269	HRCEpiC	kidney:	n/a
16	chr5:117822219-117822269	NHBE	bronchial:	n/a
17	chr5:117786381-117786431	IMR90	lung:	fetal
18	chr5:117822219-117822269	GM12891	blood:	n/a
19	chr5:117786381-117786431	T-47D	breast:	n/a
20	chr5:117822219-117822269	SK-N-MC	brain:	n/a
21	chr5:117822219-117822269	SAEC	small airway:	n/a
22	chr5:117786381-117786431	BJ	skin:	n/a
23	chr5:117786381-117786431	RPTEC	kidney:	n/a
24	chr5:117822219-117822269	MCF-7	breast:	n/a
25	chr5:117822219-117822269	HUVEC	blood vessel:	n/a
26	chr5:117786381-117786431	AG09319	gingival:	n/a
27	chr5:117786381-117786431	PrEC	prostate:	n/a
28	chr5:117822219-117822269	PFSK-1	brain:	n/a
29	chr5:117822219-117822269	T-47D	breast:	n/a
30	chr5:117786381-117786431	AG09309	skin:	n/a
31	chr5:117786381-117786431	SK-N-SH_RA	brain:	n/a
32	chr5:117822219-117822269	RPTEC	kidney:	n/a
33	chr5:117822219-117822269	GM19239	blood:	n/a
34	chr5:117786381-117786431	Hepatocyte	liver:	n/a
35	chr5:117822219-117822269	Caco-2	colon:	n/a
36	chr5:117786381-117786431	NH-A	brain:	n/a
37	chr5:117822219-117822269	ProgFib	skin:	n/a
38	chr5:117822219-117822269	HPAEpiC	pulmonary alveolar:	n/a
39	chr5:117786381-117786431	NT2-D1	testis:	n/a
40	chr5:117822219-117822269	K562	blood:	n/a
41	chr5:117786381-117786431	CMK	blood:	n/a
42	chr5:117822219-117822269	HEEpiC	esophagus:	n/a
43	chr5:117786381-117786431	NB4	blood:	n/a
44	chr5:117822219-117822269	ovcar-3	ovarian:	n/a
45	chr5:117786381-117786431	HCF	heart:	n/a
46	chr5:117822219-117822269	HCPEpiC	choroid plexus:	n/a
47	chr5:117822219-117822269	A549	lung:	n/a
48	chr5:117786381-117786431	HUVEC	blood vessel:	n/a
49	chr5:117786381-117786431	A549	lung:	n/a
50	chr5:117786381-117786431	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
2	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
3	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
4	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
5	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
6	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
7	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
8	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
9	chr5:117930634..117932935-chr5:117933519..117935108,2	MCF-7	breast:
10	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
11	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
12	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
13	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
14	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
15	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
16	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
17	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
18	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
19	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
20	chr14:81686696..81687602-chr5:117664674..117665194,3	HCT-116	colon:
21	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
22	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
23	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117897616-117897826	NONHSAT103403
2	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
3	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
4	lnc-DTWD2-10	chr5:117918641-117918733	l_3002_chr5:117837955-117925717_heart
5	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
6	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
7	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
8	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610
9	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
10	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
11	lnc-DMXL1-2	chr5:117916964-117917019	XLOC_004526
12	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
13	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
14	lnc-DTWD2-3	chr5:117897616-117897812	XLOC_004965
15	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
16	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
17	lnc-DMXL1-1	chr5:117931883-117931916	XLOC_004527
18	lnc-DTWD2-10	chr5:117909342-117909743	l_3002_chr5:117837955-117925717_heart
19	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
20	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
21	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
22	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
23	lnc-DTWD2-3	chr5:117888048-117888244	XLOC_004965
24	lnc-DTWD2-3	chr5:117881443-117881844	XLOC_004965
25	lnc-DTWD2-10	chr5:117925515-117925717	l_3002_chr5:117837955-117925717_heart
26	lnc-DMXL1-2	chr5:117915349-117915489	XLOC_004526
27	lnc-DMXL1-2	chr5:117912735-117912889	XLOC_004526
28	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
29	lnc-DTWD2-3	chr5:117897616-117897812	NONHSAT103396
30	lnc-DTWD2-3	chr5:117890742-117890834	NONHSAT103403
31	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart
32	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
33	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
34	lnc-DTWD2-3	chr5:117686661-117687202	NONHSAT103396
35	lnc-DMXL1-2	chr5:117916227-117916343	XLOC_004526
36	lnc-DMXL1-2	chr5:117911270-117911381	XLOC_004526
37	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
38	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
39	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
40	lnc-DTWD2-10	chr5:117887243-117887411	l_3002_chr5:117837955-117925717_heart
41	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
42	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
43	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
44	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
45	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
46	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
47	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
48	lnc-DTWD2-10	chr5:117886321-117886440	l_3002_chr5:117837955-117925717_heart
49	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
50	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396

Variant related genes	Relation type
ENSG00000249551	TF binding region
ENSG00000249128	TF binding region
ENSG00000250891	TF binding region
ENSG00000249551	CpG island
ENSG00000249128	CpG island
ENSG00000250891	CpG island
ENSG00000165417	chromatin interactions
ENSG00000249128	chromatin interactions
TAX1BP1	miRNA target sites
CELSR3	miRNA target sites
KRAS	miRNA target sites
MARK2	miRNA target sites
CEBPB	miRNA target sites
MAT2A	miRNA target sites
MATR3	miRNA target sites
CEBPZ	miRNA target sites
MARS2	miRNA target sites
NR2C2AP	miRNA target sites
DHX57	miRNA target sites
SFRS2	miRNA target sites
HOXA5	miRNA target sites
CEBPD	miRNA target sites

Extended variants
information (count: 8690 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8690 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550107054	chr5:117664764-117664765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138482664	chr5:117664833-117664834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552135428	chr5:117664879-117664880	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539093645	chr5:117664907-117664908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377257851	chr5:117664908-117664909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183101126	chr5:117664920-117664921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369612954	chr5:117664931-117664932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186405223	chr5:117664951-117664952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190921487	chr5:117664954-117664955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539349833	chr5:117664982-117664983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370620558	chr5:117664993-117664994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575139690	chr5:117665009-117665010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537055091	chr5:117665032-117665033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556883199	chr5:117665075-117665076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576887981	chr5:117665108-117665109	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182471259	chr5:117665111-117665112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116115561	chr5:117665126-117665127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563460855	chr5:117665141-117665142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs528898398	chr5:117665142-117665143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57330260	chr5:117665152-117665153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112329533	chr5:117665211-117665212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186765954	chr5:117665227-117665228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541574248	chr5:117665230-117665231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10478382	chr5:117665257-117665258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72789792	chr5:117665284-117665285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs192450496	chr5:117665298-117665299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183438518	chr5:117665304-117665305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187244634	chr5:117665354-117665355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532386304	chr5:117665358-117665359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373738404	chr5:117665368-117665369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552679356	chr5:117665398-117665399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192167248	chr5:117665408-117665409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572843598	chr5:117665409-117665410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528700032	chr5:117665449-117665450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115538848	chr5:117665496-117665497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76946778	chr5:117665507-117665508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10478383	chr5:117665521-117665522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75652313	chr5:117665554-117665555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557352005	chr5:117665555-117665556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114863453	chr5:117665563-117665564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143021133	chr5:117665576-117665577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552650961	chr5:117665643-117665644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537358893	chr5:117665645-117665646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146128124	chr5:117665674-117665675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187903383	chr5:117665692-117665693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138940382	chr5:117665757-117665758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192981486	chr5:117665821-117665822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376947488	chr5:117665823-117665824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544069802	chr5:117665831-117665832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568789902	chr5:117665832-117665833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117660000-117666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:117666000-117666200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:117672600-117673800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:117673200-117673600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:117678600-117678800	Bivalent Enhancer	Fetal Lung	lung
6	chr5:117682600-117683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:117686800-117687000	Enhancers	Ovary	ovary
8	chr5:117687000-117687200	ZNF genes & repeats	Aorta	Aorta
9	chr5:117687000-117690400	Weak transcription	Ovary	ovary
10	chr5:117688000-117688400	Enhancers	Fetal Lung	lung
11	chr5:117689000-117691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:117689200-117691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:117689200-117691800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:117689400-117690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:117689400-117691000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:117690200-117690800	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:117690400-117690600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:117690400-117690600	Enhancers	Ovary	ovary
19	chr5:117690600-117691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:117691200-117691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:117691600-117691800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:117691600-117691800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:117691800-117693000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:117693000-117693800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:117700600-117701000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:117702000-117703000	Enhancers	Fetal Brain Male	brain
27	chr5:117704800-117705000	Enhancers	Left Ventricle	heart
28	chr5:117707000-117708000	Weak transcription	Left Ventricle	heart
29	chr5:117707000-117708600	Enhancers	Fetal Stomach	stomach
30	chr5:117707200-117708600	Enhancers	Fetal Lung	lung
31	chr5:117707800-117708400	Enhancers	Brain Germinal Matrix	brain
32	chr5:117707800-117708400	Enhancers	Ovary	ovary
33	chr5:117708000-117708200	Enhancers	Left Ventricle	heart
34	chr5:117708000-117708600	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:117708200-117712600	Weak transcription	Left Ventricle	heart
36	chr5:117708400-117711000	Weak transcription	Ovary	ovary
37	chr5:117708600-117710200	Weak transcription	Fetal Lung	lung
38	chr5:117708600-117714400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:117710200-117710400	Enhancers	Fetal Lung	lung
40	chr5:117710400-117710800	Weak transcription	Fetal Lung	lung
41	chr5:117710800-117711600	Enhancers	Fetal Lung	lung
42	chr5:117711000-117711600	Enhancers	Ovary	ovary
43	chr5:117711600-117712600	Weak transcription	Ovary	ovary
44	chr5:117712400-117712800	Enhancers	Right Ventricle	heart
45	chr5:117712600-117712800	Enhancers	Right Atrium	heart
46	chr5:117712600-117713200	Enhancers	Left Ventricle	heart
47	chr5:117712600-117714400	Enhancers	Ovary	ovary
48	chr5:117713400-117714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:117713400-117715000	Weak transcription	Fetal Muscle Leg	muscle
50	chr5:117714200-117715200	Enhancers	Rectal Smooth Muscle	rectum

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