Variant report

Variant	esv2830374
Chromosome Location	chr5:43785548-44341631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1200)
CpG islands
(count:550)
Chromatin interactive
region (count:58)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1200 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43997382-43998687	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:44001670-44003414	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:44150284-44150484	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:44000941-44001461	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:44340824-44340827	K562	blood:	n/a	n/a
6	ARID3A	chr5:43973473-43973748	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:44332512-44332786	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:43993741-43994071	HepG2	liver:	n/a	n/a
9	ATF1	chr5:44071718-44071814	K562	blood:	n/a	n/a
10	ATF1	chr5:43854850-43855327	K562	blood:	n/a	n/a
11	ATF1	chr5:43874854-43875228	K562	blood:	n/a	n/a
12	ATF1	chr5:43855619-43855905	K562	blood:	n/a	n/a
13	ATF1	chr5:43973576-43973773	K562	blood:	n/a	n/a
14	ATF1	chr5:43804658-43805298	K562	blood:	n/a	n/a
15	ATF1	chr5:44296533-44296617	K562	blood:	n/a	n/a
16	ATF2	chr5:43854944-43855344	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr5:44108496-44108517	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr5:44067193-44067294	K562	blood:	n/a	n/a
19	BATF	chr5:44321517-44321761	GM12878	blood:	n/a	n/a
20	BATF	chr5:44048337-44048633	GM12878	blood:	n/a	n/a
21	BATF	chr5:44336964-44337148	GM12878	blood:	n/a	n/a
22	BHLHE40	chr5:43997740-43998423	HepG2	liver:	n/a	n/a
23	BHLHE40	chr5:43997720-43998065	HepG2	liver:	n/a	n/a
24	BHLHE40	chr5:44002382-44003296	HepG2	liver:	n/a	n/a
25	BHLHE40	chr5:44206865-44206880	GM12878	blood:	n/a	n/a
26	CBX3	chr5:44156164-44156426	K562	blood:	n/a	n/a
27	CCNT2	chr5:43856869-43856890	K562	blood:	n/a	n/a
28	CCNT2	chr5:43843807-43843919	K562	blood:	n/a	n/a
29	CCNT2	chr5:44095542-44095740	K562	blood:	n/a	n/a
30	CCNT2	chr5:44320148-44320259	K562	blood:	n/a	n/a
31	CEBPB	chr5:44275490-44275791	HepG2	liver:	n/a	chr5:44275627-44275638
32	CEBPB	chr5:43798883-43799099	HepG2	liver:	n/a	chr5:43799028-43799041 chr5:43799028-43799039
33	CEBPB	chr5:43908822-43908990	IMR90	lung:	n/a	n/a
34	CEBPB	chr5:44001782-44001997	HepG2	liver:	n/a	chr5:44001915-44001928 chr5:44001915-44001928 chr5:44001917-44001926 chr5:44001916-44001927 chr5:44001915-44001926
35	CEBPB	chr5:44332482-44332813	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr5:44002613-44003208	MCF-7	breast:	n/a	n/a
37	CEBPB	chr5:43973527-43973727	A549	lung:	n/a	chr5:43973662-43973673
38	CEBPB	chr5:44178534-44178800	Hela-S3	cervix:	n/a	chr5:44178702-44178713
39	CEBPB	chr5:43993715-43993924	HepG2	liver:	n/a	chr5:43993792-43993803
40	CEBPB	chr5:43974103-43974329	HepG2	liver:	n/a	chr5:43974192-43974205 chr5:43974192-43974203 chr5:43974193-43974204
41	CEBPB	chr5:43973445-43973843	HepG2	liver:	n/a	chr5:43973662-43973673
42	CEBPB	chr5:44269139-44269384	IMR90	lung:	n/a	chr5:44269188-44269199
43	CEBPB	chr5:44136900-44136913	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:43997719-43998358	HepG2	liver:	n/a	chr5:43997955-43997966
45	CEBPB	chr5:44260355-44260457	A549	lung:	n/a	n/a
46	CEBPB	chr5:44002718-44003068	MCF-7	breast:	n/a	n/a
47	CEBPB	chr5:43855100-43855315	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr5:44047052-44047420	Hela-S3	cervix:	n/a	chr5:44047198-44047209 chr5:44047241-44047252
49	CEBPB	chr5:43948201-43948585	HepG2	liver:	n/a	chr5:43948256-43948267 chr5:43948502-43948519
50	CEBPB	chr5:43852400-43852739	IMR90	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44332757-44332807	PrEC	prostate:	n/a
2	chr5:44332757-44332807	PrEC	prostate:	n/a
3	chr5:44316088-44316138	GM12891	blood:	n/a
4	chr5:43894841-43894891	Hela-S3	cervix:	n/a
5	chr5:43874599-43874649	SK-N-SH_RA	brain:	n/a
6	chr5:44316088-44316138	NB4	blood:	n/a
7	chr5:43840651-43840701	H1-hESC	embryonic stem cell:	embryo
8	chr5:44333003-44333053	HepG2	liver:	n/a
9	chr5:43840651-43840701	NHDF-neo	bronchial:	n/a
10	chr5:43894841-43894891	AG09319	gingival:	n/a
11	chr5:43874599-43874649	PrEC	prostate:	n/a
12	chr5:44316088-44316138	AG04450	lung:	fetal
13	chr5:43840651-43840701	HRE	kidney:	n/a
14	chr5:44316088-44316138	Jurkat	blood:	n/a
15	chr5:44316088-44316138	SKMC	muscle:	n/a
16	chr5:43855809-43855859	SK-N-SH	brain:	n/a
17	chr5:44332757-44332807	Hepatocyte	liver:	n/a
18	chr5:43840651-43840701	GM12891	blood:	n/a
19	chr5:43855809-43855859	GM12891	blood:	n/a
20	chr5:43840651-43840701	PrEC	prostate:	n/a
21	chr5:43855809-43855859	SK-N-SH_RA	brain:	n/a
22	chr5:43802496-43802546	HMEC	breast:	n/a
23	chr5:43802496-43802546	Hela-S3	cervix:	n/a
24	chr5:44333003-44333053	Caco-2	colon:	n/a
25	chr5:43840651-43840701	SK-N-MC	brain:	n/a
26	chr5:43840651-43840701	AoSMC	blood vessel:	n/a
27	chr5:43855809-43855859	HNPCEpiC	eye:	n/a
28	chr5:43802496-43802546	SK-N-SH_RA	brain:	n/a
29	chr5:43874599-43874649	BJ	skin:	n/a
30	chr5:43840651-43840701	GM12878	blood:	n/a
31	chr5:43894841-43894891	IMR90	lung:	fetal
32	chr5:43840651-43840701	GM19239	blood:	n/a
33	chr5:44048305-44048355	NT2-D1	testis:	n/a
34	chr5:43840651-43840701	HNPCEpiC	eye:	n/a
35	chr5:43840651-43840701	HCF	heart:	n/a
36	chr5:43855809-43855859	T-47D	breast:	n/a
37	chr5:44333003-44333053	NH-A	brain:	n/a
38	chr5:44332757-44332807	AG10803	skin:	n/a
39	chr5:43840651-43840701	HEK293	kidney:	embryo
40	chr5:44333003-44333053	HL-60	blood:	n/a
41	chr5:43855809-43855859	PFSK-1	brain:	n/a
42	chr5:44333003-44333053	GM19239	blood:	n/a
43	chr5:43855809-43855859	NHBE	bronchial:	n/a
44	chr5:43855809-43855859	AoSMC	blood vessel:	n/a
45	chr5:43855809-43855859	NT2-D1	testis:	n/a
46	chr5:44332757-44332807	SK-N-SH_RA	brain:	n/a
47	chr5:43874599-43874649	GM12892	blood:	n/a
48	chr5:44316088-44316138	NHBE	bronchial:	n/a
49	chr5:44333003-44333053	PFSK-1	brain:	n/a
50	chr5:43855809-43855859	PrEC	prostate:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:43943850..43945210-chr5:44332166..44333349,5	MCF-7	breast:
2	chr5:43841253..43845132-chr5:43846219..43848952,4	K562	blood:
3	chr5:43959643..43962625-chr5:43963827..43965631,2	MCF-7	breast:
4	chr5:44261500..44263038-chr5:44264818..44267206,2	K562	blood:
5	chr5:44002709..44003301-chr5:44088664..44089290,2	MCF-7	breast:
6	chr5:43851014..43852869-chr5:43862131..43863917,2	K562	blood:
7	chr5:43996877..43998407-chr5:44002800..44004617,2	MCF-7	breast:
8	chr5:44332593..44333484-chr5:44774049..44774688,2	MCF-7	breast:
9	chr5:44134171..44136869-chr5:44141225..44144098,2	K562	blood:
10	chr5:44261500..44263038-chr5:44264818..44267206,2	K562	blood:
11	chr5:44228689..44231066-chr5:44249534..44252102,2	MCF-7	breast:
12	chr5:43943850..43945210-chr5:44332166..44333349,5	MCF-7	breast:
13	chr5:44068711..44070519-chr5:44073414..44075403,2	MCF-7	breast:
14	chr5:43860010..43862146-chr5:43864244..43867011,2	K562	blood:
15	chr5:43833461..43835463-chr5:43843187..43845658,2	K562	blood:
16	chr5:43853756..43855840-chr5:43859496..43861291,2	K562	blood:
17	chr5:43944227..43945254-chr5:44332040..44333058,5	MCF-7	breast:
18	chr5:44311506..44313272-chr5:44317674..44320451,2	MCF-7	breast:
19	chr5:44001728..44004135-chr5:44034952..44037651,2	K562	blood:
20	chr5:44311886..44314238-chr5:44318692..44320442,2	K562	blood:
21	chr5:44271285..44272871-chr5:44275367..44277824,2	K562	blood:
22	chr5:44184913..44186790-chr5:44187829..44190859,3	K562	blood:
23	chr5:44267203..44268901-chr5:44300670..44303293,2	K562	blood:
24	chr5:44311886..44314238-chr5:44318692..44320442,2	K562	blood:
25	chr5:44304426..44306951-chr5:44308622..44310227,2	K562	blood:
26	chr5:43853756..43855840-chr5:43859496..43861291,2	K562	blood:
27	chr5:43729725..43730602-chr5:44332188..44332972,5	MCF-7	breast:
28	chr5:44002709..44003301-chr5:44088664..44089290,2	MCF-7	breast:
29	chr5:43841253..43845132-chr5:43846219..43848952,4	K562	blood:
30	chr5:43851079..43853113-chr5:43854274..43857009,2	K562	blood:
31	chr5:43998642..44000714-chr5:44004356..44005906,2	K562	blood:
32	chr5:44311506..44313272-chr5:44317674..44320451,2	MCF-7	breast:
33	chr5:43783392..43784913-chr5:43786417..43788258,2	K562	blood:
34	chr5:44304426..44306951-chr5:44308622..44310227,2	K562	blood:
35	chr5:44261148..44263635-chr5:44263697..44266075,3	MCF-7	breast:
36	chr5:44228689..44231066-chr5:44249534..44252102,2	MCF-7	breast:
37	chr5:43860010..43862146-chr5:43864244..43867011,2	K562	blood:
38	chr5:44338316..44341120-chr5:44341368..44342992,2	MCF-7	breast:
39	chr1:229644025..229644815-chr5:44068553..44069054,2	MCF-7	breast:
40	chr5:44338316..44341120-chr5:44341368..44342992,2	MCF-7	breast:
41	chr5:44022688..44025214-chr5:44027692..44029988,2	MCF-7	breast:
42	chr5:44068711..44070519-chr5:44073414..44075403,2	MCF-7	breast:
43	chr5:44022688..44025214-chr5:44027692..44029988,2	MCF-7	breast:
44	chr5:44267203..44268901-chr5:44300670..44303293,2	K562	blood:
45	chr5:43996877..43998407-chr5:44002800..44004617,2	MCF-7	breast:
46	chr5:43851079..43853113-chr5:43854274..43857009,2	K562	blood:
47	chr4:53777687..53778479-chr5:44332371..44332986,2	MCF-7	breast:
48	chr5:43851014..43852869-chr5:43862131..43863917,2	K562	blood:
49	chr5:44001728..44004135-chr5:44034952..44037651,2	K562	blood:
50	chr5:44134171..44136869-chr5:44141225..44144098,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NNT-4	chr5:43874469-43874692	XLOC_004371
2	lnc-NNT-4	chr5:43886616-43886730	XLOC_004371

No data

Variant related genes	Relation type
ENSG00000249276	TF binding region
RNU6-381P	TF binding region
ENSG00000249276	CpG island
RNU6-381P	CpG island
ENSG00000069248	chromatin interactions
ENSG00000223635	chromatin interactions

Extended variants
information (count: 11183 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:11183 , 50 per page) page: 1 2 3 4 5 6 7 ... 224

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530684752	chr5:43785599-43785600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551423573	chr5:43785605-43785606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558981106	chr5:43785616-43785617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544211092	chr5:43785623-43785624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560902366	chr5:43785627-43785628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530181560	chr5:43785637-43785638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72760500	chr5:43785673-43785674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566979465	chr5:43785754-43785755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532761743	chr5:43785769-43785770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552458122	chr5:43785791-43785792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545232046	chr5:43785795-43785796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563316288	chr5:43785809-43785810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569579549	chr5:43785811-43785812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530868615	chr5:43785812-43785813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34814715	chr5:43785896-43785897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144792518	chr5:43785935-43785936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567261423	chr5:43785954-43785955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528450356	chr5:43785960-43785961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555693940	chr5:43786049-43786050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547126183	chr5:43786074-43786075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535998162	chr5:43786093-43786094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553010524	chr5:43786094-43786095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572825143	chr5:43786108-43786109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538843425	chr5:43786109-43786110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192983714	chr5:43786164-43786165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575182151	chr5:43786192-43786193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544100204	chr5:43786197-43786198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560990917	chr5:43786208-43786209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377134741	chr5:43786209-43786210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574468151	chr5:43786251-43786252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572489087	chr5:43786258-43786259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182840594	chr5:43786276-43786277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571810624	chr5:43786358-43786359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560649273	chr5:43786362-43786363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538753894	chr5:43786367-43786368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532458676	chr5:43786385-43786386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551186526	chr5:43786476-43786477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370752486	chr5:43786477-43786478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569338846	chr5:43786479-43786480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552739191	chr5:43786503-43786504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7734169	chr5:43786523-43786524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187461314	chr5:43786524-43786525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191895387	chr5:43786539-43786540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138390285	chr5:43786598-43786599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536267246	chr5:43786630-43786631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368495729	chr5:43786636-43786637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546246034	chr5:43786656-43786657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566574123	chr5:43786681-43786682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544506321	chr5:43786701-43786702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538310819	chr5:43786709-43786710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Tetralogy of Fallot	22912587	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:708 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43785000-43785800	Enhancers	Fetal Stomach	stomach
2	chr5:43785200-43785600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:43785200-43785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43785200-43785600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:43785200-43785600	Enhancers	Stomach Smooth Muscle	stomach
6	chr5:43785200-43785800	Enhancers	Psoas Muscle	Psoas
7	chr5:43785600-43789400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:43800000-43800600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:43800200-43800600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:43801600-43802000	Enhancers	Osteobl	bone
11	chr5:43801600-43802600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:43801600-43802600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:43801600-43803200	Enhancers	HMEC	breast
14	chr5:43801600-43803400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:43801600-43803400	Enhancers	HSMMtube	muscle
16	chr5:43801600-43803600	Enhancers	HSMM	muscle
17	chr5:43801800-43802200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:43801800-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:43802000-43802400	Enhancers	NHEK	skin
20	chr5:43802000-43802400	Weak transcription	Osteobl	bone
21	chr5:43802000-43803000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:43802000-43803200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:43802200-43802600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:43802200-43802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:43802400-43802800	Flanking Active TSS	NHEK	skin
26	chr5:43802400-43803200	Enhancers	Osteobl	bone
27	chr5:43802600-43803200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:43802600-43803200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:43802600-43803400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:43802600-43803400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:43802800-43803200	Enhancers	Fetal Lung	lung
32	chr5:43802800-43803200	Enhancers	NHEK	skin
33	chr5:43803200-43803600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:43803200-43804800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:43803400-43803600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:43804800-43805200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:43814400-43815400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr5:43815600-43816400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr5:43821400-43821800	Enhancers	Fetal Stomach	stomach
40	chr5:43822200-43822400	Enhancers	Fetal Heart	heart
41	chr5:43832600-43832800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:43832800-43833600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:43833600-43834400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:43833600-43834400	Enhancers	Fetal Stomach	stomach
45	chr5:43834000-43834200	Enhancers	Fetal Lung	lung
46	chr5:43834200-43835200	Weak transcription	Fetal Lung	lung
47	chr5:43834400-43839200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:43834400-43840600	Weak transcription	Fetal Stomach	stomach
49	chr5:43835200-43837600	Enhancers	Fetal Lung	lung
50	chr5:43836400-43836600	Enhancers	HSMMtube	muscle

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