Variant report

Variant	nsv883287
Chromosome Location	chr5:179526789-179584778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:734)
CpG islands
(count:1587)
Chromatin interactive
region (count:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179532883-179533523	K562	blood:	n/a	n/a
2	ATF1	chr5:179532797-179533397	K562	blood:	n/a	n/a
3	ATF1	chr5:179530545-179530918	K562	blood:	n/a	n/a
4	ATF3	chr5:179530567-179530823	K562	blood:	n/a	n/a
5	ATF3	chr5:179563820-179563990	K562	blood:	n/a	n/a
6	ATF3	chr5:179532800-179533178	K562	blood:	n/a	n/a
7	BACH1	chr5:179553967-179554302	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:179561454-179561491	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr5:179563858-179564016	K562	blood:	n/a	n/a
10	BHLHE40	chr5:179554169-179554355	K562	blood:	n/a	n/a
11	BHLHE40	chr5:179569016-179569216	K562	blood:	n/a	chr5:179569061-179569082 chr5:179569068-179569077
12	BHLHE40	chr5:179532885-179533103	K562	blood:	n/a	n/a
13	BRCA1	chr5:179544235-179544409	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:179544320-179544323	HepG2	liver:	n/a	n/a
15	CBX3	chr5:179534044-179534377	K562	blood:	n/a	n/a
16	CBX3	chr5:179530497-179530841	K562	blood:	n/a	n/a
17	CBX3	chr5:179563853-179564104	K562	blood:	n/a	n/a
18	CBX3	chr5:179533942-179534515	HCT-116	colon:	n/a	n/a
19	CBX3	chr5:179534060-179534365	K562	blood:	n/a	n/a
20	CCNT2	chr5:179532892-179533151	K562	blood:	n/a	n/a
21	CCNT2	chr5:179554101-179554301	K562	blood:	n/a	n/a
22	CCNT2	chr5:179545577-179545642	K562	blood:	n/a	n/a
23	CCNT2	chr5:179529734-179529917	K562	blood:	n/a	n/a
24	CEBPB	chr5:179532879-179533082	K562	blood:	n/a	chr5:179533039-179533050
25	CEBPB	chr5:179529175-179529226	K562	blood:	n/a	n/a
26	CEBPB	chr5:179532884-179533173	HepG2	liver:	n/a	chr5:179533039-179533050
27	CEBPB	chr5:179583154-179583357	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr5:179549950-179550243	HepG2	liver:	n/a	chr5:179550134-179550145
29	CEBPB	chr5:179532929-179533129	A549	lung:	n/a	chr5:179533039-179533050
30	CEBPB	chr5:179549905-179550246	A549	lung:	n/a	chr5:179550134-179550145
31	CEBPB	chr5:179552950-179553146	HepG2	liver:	n/a	chr5:179553078-179553091 chr5:179553057-179553068
32	CEBPB	chr5:179553011-179553105	IMR90	lung:	n/a	chr5:179553078-179553091 chr5:179553057-179553068
33	CEBPB	chr5:179554149-179554313	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr5:179549912-179550228	IMR90	lung:	n/a	chr5:179550134-179550145
35	CEBPB	chr5:179532870-179533152	K562	blood:	n/a	chr5:179533039-179533050
36	CEBPB	chr5:179532885-179533206	K562	blood:	n/a	chr5:179533039-179533050
37	CEBPB	chr5:179544297-179544368	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr5:179552907-179553172	A549	lung:	n/a	chr5:179553078-179553091 chr5:179553057-179553068
39	CEBPB	chr5:179549952-179550212	Hela-S3	cervix:	n/a	chr5:179550134-179550145
40	CEBPB	chr5:179532838-179533236	Hela-S3	cervix:	n/a	chr5:179533039-179533050
41	CEBPB	chr5:179549944-179550090	K562	blood:	n/a	n/a
42	CHD1	chr5:179553815-179554505	IMR90	lung:	n/a	n/a
43	CHD2	chr5:179532969-179533169	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr5:179544368-179544453	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr5:179554037-179554206	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr5:179554039-179554393	A549	lung:	n/a	n/a
47	CTCF	chr5:179544110-179544512	K562	blood:	n/a	chr5:179544303-179544316 chr5:179544300-179544318
48	CTCF	chr5:179553800-179553950	GM12878	blood:	n/a	n/a
49	CTCF	chr5:179554060-179554372	MCF-7	breast:	n/a	chr5:179554275-179554288 chr5:179554211-179554224 chr5:179554212-179554230
50	CTCF	chr5:179544169-179544447	A549	lung:	n/a	chr5:179544303-179544316 chr5:179544300-179544318

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179554555-179554605	NB4	blood:	n/a
2	chr5:179554555-179554605	NB4	blood:	n/a
3	chr5:179564268-179564318	K562	blood:	n/a
4	chr5:179564602-179564652	AG09319	gingival:	n/a
5	chr5:179569548-179569598	NHDF-neo	bronchial:	n/a
6	chr5:179563839-179563889	GM19239	blood:	n/a
7	chr5:179528386-179528436	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:179554593-179554643	CMK	blood:	n/a
9	chr5:179563497-179563547	GM12878	blood:	n/a
10	chr5:179563497-179563547	HEK293	kidney:	embryo
11	chr5:179554555-179554605	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:179564268-179564318	IMR90	lung:	fetal
13	chr5:179553922-179553972	ovcar-3	ovarian:	n/a
14	chr5:179562620-179562670	RPTEC	kidney:	n/a
15	chr5:179557008-179557058	GM12892	blood:	n/a
16	chr5:179563839-179563889	LNCaP	prostate:	n/a
17	chr5:179553922-179553972	ECC-1	luminal epithelium:	n/a
18	chr5:179563200-179563250	AG09309	skin:	n/a
19	chr5:179554111-179554161	CMK	blood:	n/a
20	chr5:179563200-179563250	BE2_C	brain:	n/a
21	chr5:179554593-179554643	PFSK-1	brain:	n/a
22	chr5:179564268-179564318	Caco-2	colon:	n/a
23	chr5:179562118-179562168	H1-hESC	embryonic stem cell:	embryo
24	chr5:179563738-179563788	GM12891	blood:	n/a
25	chr5:179563497-179563547	NB4	blood:	n/a
26	chr5:179554555-179554605	BE2_C	brain:	n/a
27	chr5:179562118-179562168	BJ	skin:	n/a
28	chr5:179562118-179562168	CMK	blood:	n/a
29	chr5:179563839-179563889	HepG2	liver:	n/a
30	chr5:179562118-179562168	HNPCEpiC	eye:	n/a
31	chr5:179569548-179569598	HCPEpiC	choroid plexus:	n/a
32	chr5:179553589-179553639	HNPCEpiC	eye:	n/a
33	chr5:179528386-179528436	HepG2	liver:	n/a
34	chr5:179563839-179563889	BE2_C	brain:	n/a
35	chr5:179569548-179569598	HL-60	blood:	n/a
36	chr5:179553589-179553639	AG09309	skin:	n/a
37	chr5:179563866-179563916	HNPCEpiC	eye:	n/a
38	chr5:179554466-179554516	HepG2	liver:	n/a
39	chr5:179565544-179565594	HRE	kidney:	n/a
40	chr5:179557008-179557058	HRE	kidney:	n/a
41	chr5:179563738-179563788	PANC-1	pancreas:	n/a
42	chr5:179562620-179562670	HepG2	liver:	n/a
43	chr5:179528386-179528436	GM12878	blood:	n/a
44	chr5:179563745-179563795	HRE	kidney:	n/a
45	chr5:179563745-179563795	HCT-116	colon:	n/a
46	chr5:179528386-179528436	BJ	skin:	n/a
47	chr5:179559290-179559340	T-47D	breast:	n/a
48	chr5:179563866-179563916	HCM	heart:	n/a
49	chr5:179563745-179563795	NHDF-neo	bronchial:	n/a
50	chr5:179553922-179553972	K562	blood:	n/a

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179561122..179566111-chr5:179566279..179570642,6	MCF-7	breast:
2	chr5:179539744..179541292-chr5:179548129..179549893,2	K562	blood:
3	chr5:179556597..179557163-chr5:179565658..179566414,2	MCF-7	breast:
4	chr5:179558293..179560674-chr5:179562402..179565370,2	MCF-7	breast:
5	chr5:179565014..179567523-chr5:179570668..179572800,2	K562	blood:
6	chr5:179568439..179571185-chr5:179571573..179574464,2	K562	blood:
7	chr5:179554088..179554742-chr5:179742467..179743013,2	MCF-7	breast:
8	chr5:179524354..179527466-chr5:179530067..179534341,5	K562	blood:
9	chr5:179523738..179525811-chr5:179544274..179545923,2	MCF-7	breast:
10	chr5:179546163..179549028-chr5:179553453..179555820,2	K562	blood:
11	chr5:179553781..179554858-chr5:179635686..179636541,5	MCF-7	breast:
12	chr5:179539744..179542494-chr5:179548129..179549893,3	K562	blood:
13	chr5:179551435..179553864-chr5:179559199..179562159,2	K562	blood:
14	chr5:179528415..179530583-chr5:179532782..179534532,2	K562	blood:
15	chr5:179543851..179544407-chr5:179635297..179636277,2	MCF-7	breast:
16	chr5:179544274..179545099-chr5:179553728..179554648,2	MCF-7	breast:
17	chr5:179497086..179499283-chr5:179543542..179545830,3	MCF-7	breast:
18	chr5:179551929..179554732-chr5:179557989..179560690,2	K562	blood:
19	chr5:179551435..179553864-chr5:179559199..179562159,2	K562	blood:
20	chr5:179542665..179545616-chr5:179718276..179721972,3	MCF-7	breast:
21	chr5:179524354..179527466-chr5:179530067..179534341,5	K562	blood:
22	chr5:179505750..179508557-chr5:179532943..179534980,2	MCF-7	breast:
23	chr5:179544274..179545099-chr5:179553728..179554648,2	MCF-7	breast:
24	chr5:179553532..179554679-chr5:179635533..179636665,15	MCF-7	breast:
25	chr5:179528415..179530583-chr5:179532782..179534532,2	K562	blood:
26	chr5:179553744..179554692-chr5:180097393..180098230,2	MCF-7	breast:
27	chr5:179553164..179556296-chr5:179740039..179742529,3	MCF-7	breast:
28	chr5:179517603..179519826-chr5:179526905..179528736,2	K562	blood:
29	chr5:179554536..179556521-chr5:179716236..179718994,2	MCF-7	breast:
30	chr5:179546334..179548220-chr5:179553814..179555869,2	MCF-7	breast:
31	chr5:179546334..179548220-chr5:179553814..179555869,2	MCF-7	breast:
32	chr5:179551929..179554732-chr5:179557989..179560690,2	K562	blood:
33	chr5:179539744..179541292-chr5:179548129..179549893,2	K562	blood:
34	chr5:179544196..179547081-chr5:179550763..179552798,2	MCF-7	breast:
35	chr5:179555641..179558112-chr5:179558686..179561172,2	K562	blood:
36	chr5:179544196..179547081-chr5:179550763..179552798,2	MCF-7	breast:
37	chr5:179562265..179564254-chr5:179568163..179570454,2	K562	blood:
38	chr5:179555641..179558112-chr5:179558686..179561172,2	K562	blood:
39	chr5:179560653..179562263-chr5:179716326..179719288,2	MCF-7	breast:
40	chr5:179546163..179549028-chr5:179553453..179555820,2	K562	blood:
41	chr5:179553629..179554257-chr5:179627968..179628886,2	MCF-7	breast:
42	chr5:179520784..179524151-chr5:179524824..179530890,7	K562	blood:
43	chr5:179568439..179571185-chr5:179571573..179574464,2	K562	blood:
44	chr5:179553754..179554423-chr5:179720168..179720917,3	MCF-7	breast:
45	chr5:179517772..179520759-chr5:179536622..179539248,2	MCF-7	breast:
46	chr5:179556597..179557163-chr5:179565658..179566414,2	MCF-7	breast:
47	chr5:179317517..179319210-chr5:179536081..179538305,2	K562	blood:

No data

Variant related genes	Relation type
RASGEF1C	TF binding region
RASGEF1C	CpG island
ENSG00000050748	chromatin interactions
ENSG00000146090	chromatin interactions
ENSG00000248367	chromatin interactions
ENSG00000113269	chromatin interactions

Extended variants
information (count: 2352 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2352 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1108361	chr5:179526789-179526790	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541699215	chr5:179526836-179526837	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs562001082	chr5:179526860-179526861	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs557072903	chr5:179526863-179526864	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs150581993	chr5:179526920-179526921	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs376656123	chr5:179526949-179526950	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs191844420	chr5:179526950-179526951	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528451522	chr5:179527014-179527015	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540552202	chr5:179527027-179527028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565128416	chr5:179527082-179527083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373899375	chr5:179527085-179527086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1108362	chr5:179527094-179527095	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs550795174	chr5:179527118-179527119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139961448	chr5:179527122-179527123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11749125	chr5:179527139-179527140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548235059	chr5:179527161-179527162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566368319	chr5:179527214-179527215	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533735850	chr5:179527225-179527226	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376303470	chr5:179527240-179527241	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34508700	chr5:179527352-179527353	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79945536	chr5:179527355-179527356	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201732639	chr5:179527376-179527377	ZNF genes & repeats Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571598902	chr5:179527469-179527470	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538892049	chr5:179527503-179527504	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4415051	chr5:179527505-179527506	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532772231	chr5:179527587-179527588	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575727576	chr5:179527596-179527597	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542769124	chr5:179527601-179527602	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1867448	chr5:179527641-179527642	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs114704186	chr5:179527658-179527659	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569699601	chr5:179527683-179527684	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183758678	chr5:179527684-179527685	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143418893	chr5:179527721-179527722	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78039814	chr5:179527778-179527779	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562559364	chr5:179527799-179527800	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188514217	chr5:179527857-179527858	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547984278	chr5:179527865-179527866	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2278662	chr5:179527895-179527896	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549347604	chr5:179527899-179527900	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527327075	chr5:179527900-179527901	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59803378	chr5:179527901-179527902	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373757689	chr5:179527902-179527903	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571634663	chr5:179527918-179527919	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74852909	chr5:179527919-179527920	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550826589	chr5:179527956-179527957	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2278661	chr5:179528067-179528068	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536803755	chr5:179528075-179528076	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554771917	chr5:179528109-179528110	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573287175	chr5:179528211-179528212	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535309212	chr5:179528231-179528232	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179518400-179542800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:179525600-179527400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:179526400-179527000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr5:179527200-179527400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:179527400-179528400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:179527400-179531200	Weak transcription	Esophagus	oesophagus
7	chr5:179528400-179538400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:179529600-179530600	Enhancers	K562	blood
9	chr5:179530600-179532800	Weak transcription	K562	blood
10	chr5:179531200-179531400	Enhancers	Esophagus	oesophagus
11	chr5:179532800-179533600	Enhancers	Hela-S3	cervix
12	chr5:179532800-179533800	Enhancers	K562	blood
13	chr5:179534800-179535200	ZNF genes & repeats	Fetal Brain Female	brain
14	chr5:179535600-179536000	ZNF genes & repeats	Fetal Brain Female	brain
15	chr5:179536000-179543600	Weak transcription	Fetal Brain Female	brain
16	chr5:179536200-179537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:179536200-179554200	Weak transcription	Brain Germinal Matrix	brain
18	chr5:179536400-179536800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:179536600-179538800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:179537000-179538200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:179537000-179538400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:179537200-179538200	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:179537600-179537800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:179537800-179538800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:179537800-179546000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:179538400-179538600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:179538600-179539000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:179538600-179539200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:179538600-179541200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:179538800-179542600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:179538800-179543000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:179539000-179539200	Active TSS	Spleen	Spleen
33	chr5:179539000-179545000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr5:179539200-179543000	Weak transcription	Spleen	Spleen
35	chr5:179539400-179539600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr5:179540200-179543200	Weak transcription	Brain Angular Gyrus	brain
37	chr5:179541200-179541400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:179541400-179541800	Enhancers	K562	blood
39	chr5:179541400-179542000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:179541800-179542000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179541800-179543400	Weak transcription	K562	blood
42	chr5:179542000-179543000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:179542000-179543000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:179542400-179542600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr5:179542600-179543400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr5:179542600-179544000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr5:179542800-179543000	Enhancers	Brain Cingulate Gyrus	brain
48	chr5:179542800-179543200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:179542800-179543800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:179542800-179543800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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