Variant report

Variant	nsv5158
Chromosome Location	chr5:178946891-178968477
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	ATF2	chr5:178960873-178961287	GM12878	blood:	n/a	n/a
2	BACH1	chr5:178957142-178957774	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr5:178967579-178967940	HepG2	liver:	n/a	n/a
4	BHLHE40	chr5:178960996-178961233	GM12878	blood:	n/a	n/a
5	CBX3	chr5:178957621-178958014	K562	blood:	n/a	n/a
6	CCNT2	chr5:178957677-178957915	K562	blood:	n/a	n/a
7	CEBPB	chr5:178954009-178954592	Hela-S3	cervix:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
8	CEBPB	chr5:178954052-178954522	HepG2	liver:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
9	CEBPB	chr5:178954044-178954383	K562	blood:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
10	CEBPB	chr5:178961555-178961804	K562	blood:	n/a	n/a
11	CEBPB	chr5:178954036-178954401	IMR90	lung:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
12	CEBPB	chr5:178961512-178961808	HepG2	liver:	n/a	n/a
13	CEBPB	chr5:178954151-178954257	H1-hESC	embryonic stem cell:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
14	CEBPB	chr5:178953979-178954370	MCF-7	breast:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
15	CEBPB	chr5:178954047-178954405	A549	lung:	n/a	chr5:178954195-178954204 chr5:178954195-178954204 chr5:178954166-178954178 chr5:178954194-178954205 chr5:178954195-178954204 chr5:178954193-178954204 chr5:178954195-178954204 chr5:178954193-178954206 chr5:178954193-178954206
16	CHD1	chr5:178957345-178957540	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr5:178960860-178961389	GM12878	blood:	n/a	n/a
18	CREB1	chr5:178960805-178961435	GM12878	blood:	n/a	n/a
19	CTCF	chr5:178960100-178960250	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr5:178957780-178957930	GM06990	blood:	n/a	chr5:178957819-178957832
21	CTCF	chr5:178957660-178957810	RPTEC	kidney:	n/a	chr5:178957703-178957716
22	CTCF	chr5:178955556-178955631	GM13976	blood:	n/a	n/a
23	CTCF	chr5:178957760-178957910	GM12874	blood:	n/a	chr5:178957819-178957832
24	CTCF	chr5:178957700-178957850	GM12866	blood:	n/a	chr5:178957819-178957832 chr5:178957703-178957716
25	CTCF	chr5:178957782-178957881	NHEK	skin:	n/a	chr5:178957819-178957832
26	CTCF	chr5:178957760-178957910	HepG2	liver:	n/a	chr5:178957819-178957832
27	CTCF	chr5:178957780-178957930	GM12870	blood:	n/a	chr5:178957819-178957832
28	CTCF	chr5:178957760-178957910	GM12864	blood:	n/a	chr5:178957819-178957832
29	CTCF	chr5:178957786-178957869	HepG2	liver:	n/a	chr5:178957819-178957832
30	CTCF	chr5:178957780-178957930	GM12872	blood:	n/a	chr5:178957819-178957832
31	CTCF	chr5:178957740-178957890	HVMF	connective:	n/a	chr5:178957819-178957832
32	CTCF	chr5:178957700-178957850	AG09309	skin:	n/a	chr5:178957819-178957832 chr5:178957703-178957716
33	CTCF	chr5:178957671-178958019	GM12878	blood:	n/a	chr5:178957819-178957832 chr5:178957703-178957716
34	CTCF	chr5:178957720-178957870	SAEC	small airway:	n/a	chr5:178957819-178957832
35	CTCF	chr5:178957700-178957850	NHDF-neo	bronchial:	n/a	chr5:178957819-178957832 chr5:178957703-178957716
36	CTCF	chr5:178957680-178957830	GM12875	blood:	n/a	chr5:178957703-178957716
37	CTCF	chr5:178957760-178957910	GM12871	blood:	n/a	chr5:178957819-178957832
38	CTCF	chr5:178957760-178957910	NHLF	lung:	n/a	chr5:178957819-178957832
39	CTCF	chr5:178957760-178957910	HMEC	breast:	n/a	chr5:178957819-178957832
40	CTCF	chr5:178957780-178957930	SAEC	small airway:	n/a	chr5:178957819-178957832
41	CTCF	chr5:178957360-178957510	GM12868	blood:	n/a	n/a
42	CTCF	chr5:178957760-178957910	GM12872	blood:	n/a	chr5:178957819-178957832
43	CTCF	chr5:178957749-178957886	Kidney_OC	kidney:	n/a	chr5:178957819-178957832
44	CTCF	chr5:178960220-178960370	HCT-116	colon:	n/a	n/a
45	CTCF	chr5:178957780-178957930	HPAF	blood vessel:	n/a	chr5:178957819-178957832
46	CTCF	chr5:178957740-178957890	AG04449	skin:	n/a	chr5:178957819-178957832
47	CTCF	chr5:178957780-178957930	AoAF	blood vessel:	n/a	chr5:178957819-178957832
48	CTCF	chr5:178957740-178957890	HRPEpiC	eye:	n/a	chr5:178957819-178957832
49	CTCF	chr5:178960120-178960270	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:178957720-178957870	HCPEpiC	choroid plexus:	n/a	chr5:178957819-178957832

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178957930-178957980	HepG2	liver:	n/a
2	chr5:178956838-178956888	SAEC	small airway:	n/a
3	chr5:178950795-178950845	PrEC	prostate:	n/a
4	chr5:178956073-178956123	H1-hESC	embryonic stem cell:	embryo
5	chr5:178956874-178956924	AG04449	skin:	fetal
6	chr5:178956838-178956888	NHDF-neo	bronchial:	n/a
7	chr5:178957434-178957484	GM06990	blood:	n/a
8	chr5:178950855-178950905	AG09309	skin:	n/a
9	chr5:178957434-178957484	GM12878	blood:	n/a
10	chr5:178953596-178953646	HIPEpiC	eye:	n/a
11	chr5:178957434-178957484	PFSK-1	brain:	n/a
12	chr5:178957598-178957648	SK-N-MC	brain:	n/a
13	chr5:178956931-178956981	GM12892	blood:	n/a
14	chr5:178950795-178950845	HRE	kidney:	n/a
15	chr5:178957434-178957484	NT2-D1	testis:	n/a
16	chr5:178950855-178950905	SK-N-MC	brain:	n/a
17	chr5:178956073-178956123	RPTEC	kidney:	n/a
18	chr5:178957930-178957980	NHBE	bronchial:	n/a
19	chr5:178960377-178960427	HMEC	breast:	n/a
20	chr5:178957598-178957648	AG10803	skin:	n/a
21	chr5:178957598-178957648	HAEpiC	amniotic membrane:	n/a
22	chr5:178957344-178957394	HRE	kidney:	n/a
23	chr5:178960377-178960427	GM12892	blood:	n/a
24	chr5:178956838-178956888	HMEC	breast:	n/a
25	chr5:178956073-178956123	BE2_C	brain:	n/a
26	chr5:178957434-178957484	NHDF-neo	bronchial:	n/a
27	chr5:178957344-178957394	AG10803	skin:	n/a
28	chr5:178956838-178956888	AG09309	skin:	n/a
29	chr5:178957434-178957484	H1-hESC	embryonic stem cell:	embryo
30	chr5:178957344-178957394	MCF10A-Er-Src	breast:	n/a
31	chr5:178957344-178957394	SAEC	small airway:	n/a
32	chr5:178953596-178953646	MCF-7	breast:	n/a
33	chr5:178960377-178960427	PANC-1	pancreas:	n/a
34	chr5:178956073-178956123	HRCEpiC	kidney:	n/a
35	chr5:178957930-178957980	Jurkat	blood:	n/a
36	chr5:178957880-178957930	AG04450	lung:	fetal
37	chr5:178956073-178956123	HMEC	breast:	n/a
38	chr5:178953596-178953646	HCPEpiC	choroid plexus:	n/a
39	chr5:178957598-178957648	GM12878	blood:	n/a
40	chr5:178956874-178956924	HAEpiC	amniotic membrane:	n/a
41	chr5:178956838-178956888	ProgFib	skin:	n/a
42	chr5:178956931-178956981	AG09309	skin:	n/a
43	chr5:178957344-178957394	HNPCEpiC	eye:	n/a
44	chr5:178957344-178957394	LNCaP	prostate:	n/a
45	chr5:178956874-178956924	SK-N-SH_RA	brain:	n/a
46	chr5:178957344-178957394	K562	blood:	n/a
47	chr5:178956931-178956981	HIPEpiC	eye:	n/a
48	chr5:178956073-178956123	ProgFib	skin:	n/a
49	chr5:178956874-178956924	HRPEpiC	eye:	n/a
50	chr5:178956931-178956981	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:178958919..178961962-chr5:178962607..178965657,3	K562	blood:
2	chr5:178960272..178962115-chr5:178969166..178970829,2	MCF-7	breast:
3	chr5:178958463..178961720-chr5:178975691..178978032,4	MCF-7	breast:
4	chr5:178955819..178957353-chr5:179123603..179125281,2	MCF-7	breast:
5	chr5:178958501..178962397-chr5:178966368..178969379,3	K562	blood:
6	chr5:178966233..178969209-chr5:178970782..178972509,2	MCF-7	breast:
7	chr5:178964185..178968820-chr5:178974807..178977846,4	K562	blood:
8	chr5:178959529..178962397-chr5:178966368..178968696,2	K562	blood:
9	chr5:178958501..178962397-chr5:178966368..178969379,3	K562	blood:
10	chr5:178964680..178966401-chr5:178977965..178979894,2	K562	blood:
11	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
12	chr5:178967183..178969964-chr5:178976742..178979184,3	MCF-7	breast:
13	chr5:178967735..178971439-chr5:178974886..178978659,7	MCF-7	breast:
14	chr5:178967564..178969306-chr5:178978047..178979581,2	K562	blood:
15	chr5:178958919..178961962-chr5:178962607..178965657,3	K562	blood:
16	chr5:178951958..178953490-chr5:179038317..179039826,2	K562	blood:
17	chr5:178951455..178953105-chr5:179047683..179049374,2	MCF-7	breast:
18	chr5:178951884..178954426-chr5:179031332..179033126,2	MCF-7	breast:
19	chr5:178961944..178964885-chr5:178975318..178977306,2	MCF-7	breast:
20	chr5:178946216..178946980-chr5:179095346..179096018,3	MCF-7	breast:
21	chr5:178966269..178968602-chr5:178984458..178986550,2	MCF-7	breast:
22	chr5:178967863..178970636-chr5:179244489..179247315,2	MCF-7	breast:
23	chr5:178959529..178962397-chr5:178966368..178968696,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RUFY1-4	chr5:178950418-178950475	NONHSAT105586
2	lnc-HNRNPH1-2	chr5:178951450-178952173	ENSG00000251657
3	lnc-HNRNPH1-2	chr5:178949497-178950926	ENSG00000251657
4	lnc-RUFY1-4	chr5:178950374-178950475	NONHSAT105587
5	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105586
6	lnc-RUFY1-4	chr5:178949401-178949705	NONHSAT105586
7	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105587

Variant related genes	Relation type
ENSG00000251545	TF binding region
ENSG00000253520	TF binding region
ENSG00000253652	TF binding region
ENSG00000251545	CpG island
ENSG00000253520	CpG island
ENSG00000253652	CpG island
ENSG00000161011	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000169045	chromatin interactions
GAPVD1	miRNA target sites
PIGU	miRNA target sites

Extended variants
information (count: 919 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551792119	chr5:178946964-178946965	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114462812	chr5:178946967-178946968	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs111751621	chr5:178946979-178946980	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191793224	chr5:178947000-178947001	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570114610	chr5:178947010-178947011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558014474	chr5:178947044-178947045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537323920	chr5:178947143-178947144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185617406	chr5:178947218-178947219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs567420069	chr5:178947232-178947233	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534540040	chr5:178947244-178947245	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552987569	chr5:178947256-178947257	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs571263522	chr5:178947275-178947276	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12523551	chr5:178947281-178947282	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144469618	chr5:178947328-178947329	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574921380	chr5:178947350-178947351	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs147986643	chr5:178947351-178947352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs112365235	chr5:178947352-178947353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs574147447	chr5:178947358-178947359	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs377400764	chr5:178947366-178947367	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs541266506	chr5:178947371-178947372	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs559939045	chr5:178947376-178947377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs142313648	chr5:178947380-178947381	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545550057	chr5:178947385-178947386	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs145934534	chr5:178947392-178947393	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs191298391	chr5:178947393-178947394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs542305694	chr5:178947398-178947399	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs567452314	chr5:178947407-178947408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546436495	chr5:178947424-178947425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139984957	chr5:178947471-178947472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150774802	chr5:178947479-178947480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573086886	chr5:178947482-178947483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571466121	chr5:178947484-178947485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538324528	chr5:178947500-178947501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556670016	chr5:178947520-178947521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111616635	chr5:178947521-178947522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577329214	chr5:178947528-178947529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144666163	chr5:178947529-178947530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374794843	chr5:178947531-178947532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565547034	chr5:178947541-178947542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535865570	chr5:178947618-178947619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139123370	chr5:178947659-178947660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6862387	chr5:178947661-178947662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs541757716	chr5:178947709-178947710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553272768	chr5:178947711-178947712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556293354	chr5:178947722-178947723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578151710	chr5:178947727-178947728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544556340	chr5:178947729-178947730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545484831	chr5:178947747-178947748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563795308	chr5:178947778-178947779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182659186	chr5:178947779-178947780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178943600-178949000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:178946600-178947000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr5:178946600-178947000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:178946600-178947000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr5:178946600-178947000	Flanking Active TSS	Fetal Brain Female	brain
6	chr5:178946600-178947000	Enhancers	Fetal Lung	lung
7	chr5:178946600-178947000	Enhancers	Thymus	Thymus
8	chr5:178946600-178947000	Enhancers	K562	blood
9	chr5:178946600-178947200	Enhancers	HepG2	liver
10	chr5:178946800-178947400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:178947000-178952600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:178947200-178947400	Bivalent Enhancer	HepG2	liver
13	chr5:178949000-178949400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:178949400-178956600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:178950600-178951000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:178951000-178957000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:178953200-178956600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:178953600-178954800	Enhancers	Hela-S3	cervix
19	chr5:178953600-178956400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:178953600-178956600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:178954200-178954600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:178954200-178954800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:178954400-178954600	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:178954400-178954600	Enhancers	Spleen	Spleen
25	chr5:178954600-178954800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:178954600-178954800	Enhancers	Thymus	Thymus
27	chr5:178954600-178956600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:178954600-178956800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:178954600-178957200	Weak transcription	Spleen	Spleen
30	chr5:178954800-178955000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:178954800-178956600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:178954800-178956600	Weak transcription	Thymus	Thymus
33	chr5:178954800-178957400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:178955000-178955200	Enhancers	Dnd41	blood
35	chr5:178955000-178956800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr5:178955200-178955400	Enhancers	Colon Smooth Muscle	Colon
37	chr5:178955200-178956600	Weak transcription	Dnd41	blood
38	chr5:178955400-178956600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:178955800-178956400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:178956400-178958800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:178956600-178956800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr5:178956600-178956800	Enhancers	Adipose Nuclei	Adipose
43	chr5:178956600-178956800	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:178956600-178957000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr5:178956600-178957000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:178956600-178957000	Enhancers	Colon Smooth Muscle	Colon
47	chr5:178956600-178957000	Enhancers	Thymus	Thymus
48	chr5:178956600-178957400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr5:178956600-178957400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:178956600-178957800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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