Variant report

Variant	esv2755533
Chromosome Location	chr5:14814900-14882800
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	chr5:14871003-14871218	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:14874566-14874709	K562	blood:	n/a	n/a
3	ATF1	chr5:14869476-14869665	K562	blood:	n/a	n/a
4	ATF3	chr5:14871995-14872172	K562	blood:	n/a	n/a
5	ATF3	chr5:14826909-14827096	K562	blood:	n/a	n/a
6	BACH1	chr5:14838695-14838934	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:14871467-14871605	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:14872044-14872466	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr5:14872034-14872193	K562	blood:	n/a	n/a
10	BHLHE40	chr5:14863434-14863537	K562	blood:	n/a	chr5:14863465-14863474 chr5:14863463-14863476 chr5:14863465-14863474 chr5:14863466-14863475
11	BHLHE40	chr5:14842264-14842576	HepG2	liver:	n/a	n/a
12	BHLHE40	chr5:14871725-14872235	GM12878	blood:	n/a	n/a
13	BHLHE40	chr5:14867022-14867051	K562	blood:	n/a	n/a
14	BHLHE40	chr5:14871799-14872204	HepG2	liver:	n/a	n/a
15	BRCA1	chr5:14872602-14873086	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr5:14862573-14862773	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr5:14858961-14859139	Hela-S3	cervix:	n/a	n/a
18	CCNT2	chr5:14871835-14872494	K562	blood:	n/a	chr5:14872293-14872302 chr5:14872391-14872400 chr5:14872300-14872309
19	CEBPB	chr5:14880115-14880761	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
20	CEBPB	chr5:14817065-14817421	K562	blood:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
21	CEBPB	chr5:14855527-14855726	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr5:14880147-14880822	HCT-116	colon:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
23	CEBPB	chr5:14845889-14846047	HepG2	liver:	n/a	chr5:14846020-14846031
24	CEBPB	chr5:14870966-14871609	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr5:14880103-14881139	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
26	CEBPB	chr5:14880202-14880784	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
27	CEBPB	chr5:14816969-14817538	A549	lung:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
28	CEBPB	chr5:14880417-14880605	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
29	CEBPB	chr5:14870576-14870758	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr5:14880325-14880696	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
31	CEBPB	chr5:14817041-14817435	MCF-7	breast:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
32	CEBPB	chr5:14817034-14817407	A549	lung:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
33	CEBPB	chr5:14879942-14881166	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
34	CEBPB	chr5:14880267-14880698	ECC-1	luminal epithelium:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
35	CEBPB	chr5:14880322-14880708	ECC-1	luminal epithelium:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
36	CEBPB	chr5:14880127-14881193	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
37	CEBPB	chr5:14879589-14881286	Hela-S3	cervix:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
38	CEBPB	chr5:14817070-14817416	A549	lung:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
39	CEBPB	chr5:14875565-14875768	A549	lung:	n/a	chr5:14875646-14875659 chr5:14875648-14875659
40	CEBPB	chr5:14880202-14880904	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
41	CEBPB	chr5:14880164-14880873	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
42	CEBPB	chr5:14880424-14880576	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
43	CEBPB	chr5:14880079-14881172	IMR90	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
44	CEBPB	chr5:14817041-14817475	IMR90	lung:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
45	CEBPB	chr5:14873320-14873352	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr5:14877361-14877535	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr5:14817061-14817426	HepG2	liver:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247
48	CEBPB	chr5:14855564-14855769	HepG2	liver:	n/a	n/a
49	CEBPB	chr5:14830069-14830156	K562	blood:	n/a	chr5:14830083-14830094 chr5:14830082-14830093 chr5:14830099-14830110
50	CEBPB	chr5:14817073-14817433	Hela-S3	cervix:	n/a	chr5:14817209-14817220 chr5:14817236-14817249 chr5:14817237-14817248 chr5:14817236-14817247

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14871736-14871786	HCT-116	colon:	n/a
2	chr5:14867414-14867464	A549	lung:	n/a
3	chr5:14849935-14849985	IMR90	lung:	fetal
4	chr5:14872612-14872662	NB4	blood:	n/a
5	chr5:14816929-14816979	AG04449	skin:	fetal
6	chr5:14870594-14870644	HNPCEpiC	eye:	n/a
7	chr5:14870666-14870716	HRPEpiC	eye:	n/a
8	chr5:14871736-14871786	HCT-116	colon:	n/a
9	chr5:14867414-14867464	A549	lung:	n/a
10	chr5:14849935-14849985	IMR90	lung:	fetal
11	chr5:14872612-14872662	NB4	blood:	n/a
12	chr5:14816929-14816979	AG04449	skin:	fetal
13	chr5:14870594-14870644	HNPCEpiC	eye:	n/a
14	chr5:14870666-14870716	HRPEpiC	eye:	n/a
15	chr5:14871845-14871895	A549	lung:	n/a
16	chr5:14872612-14872662	SAEC	small airway:	n/a
17	chr5:14870666-14870716	GM06990	blood:	n/a
18	chr5:14872207-14872257	U87	brain:	n/a
19	chr5:14874549-14874599	NHDF-neo	bronchial:	n/a
20	chr5:14873039-14873089	GM06990	blood:	n/a
21	chr5:14871894-14871944	SKMC	muscle:	n/a
22	chr5:14872934-14872984	NT2-D1	testis:	n/a
23	chr5:14871542-14871592	HAEpiC	amniotic membrane:	n/a
24	chr5:14872612-14872662	HepG2	liver:	n/a
25	chr5:14870083-14870133	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:14874549-14874599	PANC-1	pancreas:	n/a
27	chr5:14874549-14874599	A549	lung:	n/a
28	chr5:14872612-14872662	PANC-1	pancreas:	n/a
29	chr5:14874832-14874882	HEK293	kidney:	embryo
30	chr5:14872612-14872662	HCPEpiC	choroid plexus:	n/a
31	chr5:14872551-14872601	CMK	blood:	n/a
32	chr5:14870749-14870799	GM12878	blood:	n/a
33	chr5:14871443-14871493	BE2_C	brain:	n/a
34	chr5:14849935-14849985	GM19239	blood:	n/a
35	chr5:14872612-14872662	GM12878	blood:	n/a
36	chr5:14871469-14871519	NH-A	brain:	n/a
37	chr5:14871736-14871786	Caco-2	colon:	n/a
38	chr5:14873039-14873089	HRCEpiC	kidney:	n/a
39	chr5:14872612-14872662	T-47D	breast:	n/a
40	chr5:14872612-14872662	NHBE	bronchial:	n/a
41	chr5:14870594-14870644	HL-60	blood:	n/a
42	chr5:14870594-14870644	HEK293	kidney:	embryo
43	chr5:14867414-14867464	MCF-7	breast:	n/a
44	chr5:14871736-14871786	HRPEpiC	eye:	n/a
45	chr5:14871443-14871493	A549	lung:	n/a
46	chr5:14872612-14872662	SKMC	muscle:	n/a
47	chr5:14873039-14873089	RPTEC	kidney:	n/a
48	chr5:14871542-14871592	AoSMC	blood vessel:	n/a
49	chr5:14848758-14848808	HEEpiC	esophagus:	n/a
50	chr5:14871894-14871944	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14856857..14859538-chr5:14871349..14874302,2	MCF-7	breast:
2	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:
3	chr5:14850589..14853387-chr5:14861534..14863865,2	MCF-7	breast:
4	chr5:14879517..14881326-chr5:14882980..14885197,2	MCF-7	breast:
5	chr5:14807486..14808341-chr5:14864093..14865028,3	MCF-7	breast:
6	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
7	chr16:15736896..15737522-chr5:14872268..14872832,2	Hela-S3	cervix:
8	chr5:14871557..14872468-chr8:128747896..128748761,2	NB4	blood:
9	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
10	chr5:14857323..14860258-chr5:14864788..14866500,2	MCF-7	breast:
11	chr5:14857323..14860258-chr5:14864788..14866500,2	MCF-7	breast:
12	chr10:93683034..93683876-chr5:14871412..14872027,2	Hela-S3	cervix:
13	chr12:56511621..56512291-chr5:14872089..14872740,2	Hela-S3	cervix:
14	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
15	chr5:14826927..14829271-chr5:14829445..14831346,2	K562	blood:
16	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
17	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:
18	chr5:14867615..14869927-chr5:14870237..14872388,4	K562	blood:
19	chr5:14815464..14817984-chr5:14822641..14824319,2	K562	blood:
20	chr5:14882521..14884464-chr5:14889491..14892449,2	K562	blood:
21	chr5:14815464..14817984-chr5:14822641..14824319,2	K562	blood:
22	chr5:14765384..14768223-chr5:14864661..14866800,2	MCF-7	breast:
23	chr5:14863140..14869148-chr5:14869858..14873392,6	MCF-7	breast:
24	chr5:14850589..14853387-chr5:14861534..14863865,2	MCF-7	breast:
25	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
26	chr1:11968024..11968902-chr5:14869583..14870398,2	Hela-S3	cervix:
27	chr5:14853860..14855427-chr5:14933232..14934776,2	MCF-7	breast:
28	chr5:14861537..14863367-chr5:14871882..14873809,2	MCF-7	breast:
29	chr5:14864911..14869985-chr5:14870388..14873560,6	K562	blood:
30	chr5:14727596..14728164-chr5:14870078..14871126,3	K562	blood:
31	chr5:14863860..14866794-chr5:14868598..14871601,3	K562	blood:
32	chr17:41465783..41466320-chr5:14871948..14872665,2	Hela-S3	cervix:
33	chr5:14824343..14826536-chr5:14829301..14831889,2	MCF-7	breast:
34	chr5:14826927..14829271-chr5:14829445..14831346,2	K562	blood:
35	chr5:14814901..14816441-chr5:14887392..14889230,2	K562	blood:
36	chr5:14807445..14808156-chr5:14864155..14865031,3	MCF-7	breast:
37	chr5:14765139..14767276-chr5:14879416..14882042,3	MCF-7	breast:
38	chr5:14851792..14853991-chr5:14869985..14871997,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-8	chr5:14872441-14872822	ENSG00000272057.1
2	lnc-ANKH-5	chr5:14877776-14878028	NONHSAT100570

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4637	chr5:14826041-14826062	MIMAT0019694

Variant related genes	Relation type
ENSG00000272057	TF binding region
ANKH	TF binding region
MIR4637	TF binding region
HNRNPKP5	TF binding region
UQCRBP3	TF binding region
ENSG00000272057	CpG island
ANKH	CpG island
MIR4637	CpG island
HNRNPKP5	CpG island
UQCRBP3	CpG island
ENSG00000250662	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000249928	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000272057	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000264792	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000095564	chromatin interactions
ENSG00000272213	chromatin interactions
ENSG00000154122	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000166783	chromatin interactions

Extended variants
information (count: 2472 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2472 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570247548	chr5:14814905-14814906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563584994	chr5:14814919-14814920	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143876549	chr5:14814921-14814922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568297003	chr5:14814990-14814991	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148622389	chr5:14815003-14815004	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554074324	chr5:14815058-14815059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141573828	chr5:14815094-14815095	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539670168	chr5:14815101-14815102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150912127	chr5:14815121-14815122	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139349770	chr5:14815132-14815133	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145579990	chr5:14815164-14815165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531086253	chr5:14815175-14815176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544573185	chr5:14815222-14815223	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542521228	chr5:14815280-14815281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147681592	chr5:14815308-14815309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34841823	chr5:14815368-14815369	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574817959	chr5:14815407-14815408	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10064537	chr5:14815478-14815479	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560869477	chr5:14815507-14815508	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527865796	chr5:14815536-14815537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546002582	chr5:14815540-14815541	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563811186	chr5:14815573-14815574	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs26306	chr5:14815699-14815700	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs531132945	chr5:14815728-14815729	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549709687	chr5:14815750-14815751	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75537445	chr5:14815758-14815759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140826799	chr5:14815828-14815829	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113894212	chr5:14815854-14815855	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115068888	chr5:14815855-14815856	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10037504	chr5:14815867-14815868	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144764166	chr5:14815869-14815870	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564225825	chr5:14815874-14815875	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539606299	chr5:14815992-14815993	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182139913	chr5:14815999-14816000	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570920330	chr5:14816000-14816001	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111563592	chr5:14816046-14816047	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145709527	chr5:14816070-14816071	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574722211	chr5:14816111-14816112	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542244798	chr5:14816137-14816138	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187481416	chr5:14816167-14816168	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560855219	chr5:14816177-14816178	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528592580	chr5:14816200-14816201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572426968	chr5:14816228-14816229	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545946807	chr5:14816232-14816233	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548411338	chr5:14816290-14816291	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564348495	chr5:14816327-14816328	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531827243	chr5:14816335-14816336	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373680997	chr5:14816364-14816365	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543148381	chr5:14816365-14816366	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560281247	chr5:14816414-14816415	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:1847 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
2	chr5:14796400-14821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:14809600-14815000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:14810600-14815400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr5:14810800-14815600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:14810800-14816000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:14810800-14816000	Weak transcription	A549	lung
8	chr5:14811200-14816200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:14811200-14816400	Weak transcription	NHEK	skin
10	chr5:14811400-14816200	Weak transcription	NH-A	brain
11	chr5:14811400-14816400	Weak transcription	NHLF	lung
12	chr5:14811400-14821400	Weak transcription	Fetal Heart	heart
13	chr5:14811600-14815000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:14811600-14815600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:14811600-14815800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:14811600-14815800	Weak transcription	HMEC	breast
17	chr5:14811600-14816200	Weak transcription	Fetal Brain Male	brain
18	chr5:14811600-14816200	Weak transcription	NHDF-Ad	bronchial
19	chr5:14811600-14816400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:14811600-14816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:14811600-14816600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:14811600-14816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:14811600-14816800	Weak transcription	Adipose Nuclei	Adipose
24	chr5:14811600-14816800	Weak transcription	Liver	Liver
25	chr5:14811600-14816800	Weak transcription	Lung	lung
26	chr5:14811600-14819400	Weak transcription	Esophagus	oesophagus
27	chr5:14811600-14825000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:14811600-14827400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:14811600-14827600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:14811600-14843800	Weak transcription	Fetal Intestine Large	intestine
31	chr5:14811600-14861200	Weak transcription	Colonic Mucosa	Colon
32	chr5:14811800-14816000	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:14812000-14816000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:14812000-14816000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:14812000-14817400	Weak transcription	Hela-S3	cervix
36	chr5:14812000-14849600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr5:14812200-14820600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:14812600-14815800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:14812600-14816400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:14812600-14821000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:14812800-14816000	Weak transcription	Brain Angular Gyrus	brain
42	chr5:14812800-14816800	Weak transcription	Aorta	Aorta
43	chr5:14813200-14817800	Weak transcription	GM12878-XiMat	blood
44	chr5:14813400-14817400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:14813800-14816800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:14814000-14815400	Weak transcription	Right Ventricle	heart
47	chr5:14814000-14816800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:14814000-14824800	Weak transcription	HepG2	liver
49	chr5:14814000-14835000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:14814200-14815600	Strong transcription	Osteobl	bone

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