Variant report

Variant	nsv980690
Chromosome Location	chr5:79591958-79614381
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	chr5:79603464-79603740	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:79604040-79604238	HepG2	liver:	n/a	chr5:79604162-79604173
3	CEBPB	chr5:79604081-79604223	H1-hESC	embryonic stem cell:	n/a	chr5:79604162-79604173
4	CTCF	chr5:79603500-79603650	HCPEpiC	choroid plexus:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
5	CTCF	chr5:79603500-79603650	BE2_C	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
6	CTCF	chr5:79603475-79603612	Gliobla	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
7	CTCF	chr5:79603843-79603940	GM19240	blood:	n/a	n/a
8	CTCF	chr5:79603500-79603650	AoAF	blood vessel:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
9	CTCF	chr5:79603520-79603670	K562	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
10	CTCF	chr5:79603491-79603617	SK-N-SH_RA	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
11	CTCF	chr5:79603480-79603630	GM12871	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
12	CTCF	chr5:79603480-79603630	HFF-Myc	foreskin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
13	CTCF	chr5:79603520-79603670	HUVEC	blood vessel:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
14	CTCF	chr5:79603373-79603763	GM12878	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
15	CTCF	chr5:79603540-79603690	HBMEC	blood vessel:	n/a	chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
16	CTCF	chr5:79603415-79603757	MCF-7	breast:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
17	CTCF	chr5:79603520-79603670	GM12872	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
18	CTCF	chr5:79603520-79603670	AG10803	skin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
19	CTCF	chr5:79603461-79603650	GM13977	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
20	CTCF	chr5:79603500-79603650	AG09309	skin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
21	CTCF	chr5:79603520-79603670	GM12871	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
22	CTCF	chr5:79603540-79603690	WI-38	lung:	n/a	chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
23	CTCF	chr5:79603500-79603650	GM12868	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
24	CTCF	chr5:79603422-79603720	Spleen_OC	spleen:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
25	CTCF	chr5:79603520-79603670	GM12866	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
26	CTCF	chr5:79603497-79603618	GM13976	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
27	CTCF	chr5:79603500-79603650	HRE	kidney:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
28	CTCF	chr5:79603500-79603650	HPAF	blood vessel:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
29	CTCF	chr5:79603500-79603650	HFF-Myc	foreskin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
30	CTCF	chr5:79603520-79603670	HVMF	connective:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
31	CTCF	chr5:79603493-79603629	GM10266	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
32	CTCF	chr5:79603397-79604010	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
33	CTCF	chr5:79603378-79603752	IMR90	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
34	CTCF	chr5:79603540-79603690	Hela-S3	cervix:	n/a	chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
35	CTCF	chr5:79603452-79603691	Medullo	brain:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
36	CTCF	chr5:79603520-79603670	HA-sp	spinal cord:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
37	CTCF	chr5:79603480-79603630	HMEC	breast:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
38	CTCF	chr5:79611672-79611766	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:79603500-79603650	AG04450	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
40	CTCF	chr5:79603500-79603650	GM12875	blood:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
41	CTCF	chr5:79603520-79603670	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
42	CTCF	chr5:79603434-79603816	HCT-116	colon:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
43	CTCF	chr5:79603740-79603890	GM12865	blood:	n/a	n/a
44	CTCF	chr5:79603500-79603650	AG10803	skin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
45	CTCF	chr5:79603420-79603570	NHEK	skin:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
46	CTCF	chr5:79603460-79603610	Hela-S3	cervix:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
47	CTCF	chr5:79603445-79603661	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
48	CTCF	chr5:79603389-79603714	A549	lung:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
49	CTCF	chr5:79603520-79603670	HMF	breast:	n/a	chr5:79603538-79603559 chr5:79603549-79603558 chr5:79603544-79603560 chr5:79603545-79603558 chr5:79603543-79603561
50	CTCF	chr5:79603580-79603730	WI-38	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:79605859-79605909	AoSMC	blood vessel:	n/a
2	chr5:79605859-79605909	AoSMC	blood vessel:	n/a
3	chr5:79596319-79596369	GM12891	blood:	n/a
4	chr5:79596224-79596274	HCPEpiC	choroid plexus:	n/a
5	chr5:79605222-79605272	BE2_C	brain:	n/a
6	chr5:79596319-79596369	HEK293	kidney:	embryo
7	chr5:79596224-79596274	GM12892	blood:	n/a
8	chr5:79605222-79605272	MCF-7	breast:	n/a
9	chr5:79596224-79596274	H1-hESC	embryonic stem cell:	embryo
10	chr5:79605222-79605272	U87	brain:	n/a
11	chr5:79605859-79605909	ovcar-3	ovarian:	n/a
12	chr5:79605859-79605909	HMEC	breast:	n/a
13	chr5:79605859-79605909	Hela-S3	cervix:	n/a
14	chr5:79605222-79605272	HUVEC	blood vessel:	n/a
15	chr5:79596224-79596274	SK-N-SH_RA	brain:	n/a
16	chr5:79596224-79596274	T-47D	breast:	n/a
17	chr5:79605222-79605272	PrEC	prostate:	n/a
18	chr5:79605859-79605909	IMR90	lung:	fetal
19	chr5:79596224-79596274	A549	lung:	n/a
20	chr5:79605859-79605909	NHDF-neo	bronchial:	n/a
21	chr5:79596319-79596369	NH-A	brain:	n/a
22	chr5:79596319-79596369	Caco-2	colon:	n/a
23	chr5:79605222-79605272	Caco-2	colon:	n/a
24	chr5:79596224-79596274	GM19239	blood:	n/a
25	chr5:79596224-79596274	NHDF-neo	bronchial:	n/a
26	chr5:79605222-79605272	AG09319	gingival:	n/a
27	chr5:79596224-79596274	ECC-1	luminal epithelium:	n/a
28	chr5:79596319-79596369	AoSMC	blood vessel:	n/a
29	chr5:79596224-79596274	BJ	skin:	n/a
30	chr5:79596224-79596274	AG04450	lung:	fetal
31	chr5:79605859-79605909	GM06990	blood:	n/a
32	chr5:79605222-79605272	AG04449	skin:	fetal
33	chr5:79596224-79596274	NT2-D1	testis:	n/a
34	chr5:79596224-79596274	GM06990	blood:	n/a
35	chr5:79596224-79596274	HRE	kidney:	n/a
36	chr5:79605222-79605272	GM12878	blood:	n/a
37	chr5:79596319-79596369	Hepatocyte	liver:	n/a
38	chr5:79605859-79605909	HCF	heart:	n/a
39	chr5:79605859-79605909	SAEC	small airway:	n/a
40	chr5:79605859-79605909	SK-N-MC	brain:	n/a
41	chr5:79596224-79596274	HRCEpiC	kidney:	n/a
42	chr5:79605859-79605909	PANC-1	pancreas:	n/a
43	chr5:79605222-79605272	NT2-D1	testis:	n/a
44	chr5:79605859-79605909	Hepatocyte	liver:	n/a
45	chr5:79596224-79596274	HCT-116	colon:	n/a
46	chr5:79596224-79596274	GM12878	blood:	n/a
47	chr5:79605222-79605272	HMEC	breast:	n/a
48	chr5:79605222-79605272	SK-N-SH_RA	brain:	n/a
49	chr5:79605859-79605909	HIPEpiC	eye:	n/a
50	chr5:79596319-79596369	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79387676..79388570-chr5:79603076..79603754,4	MCF-7	breast:
2	chr5:79549488..79552187-chr5:79612065..79613883,2	K562	blood:
3	chr5:79551714..79553387-chr5:79600959..79603373,2	MCF-7	breast:
4	chr5:79387254..79388326-chr5:79602600..79603634,8	K562	blood:
5	chr5:79387918..79390143-chr5:79603120..79605214,2	MCF-7	breast:

Variant related genes	Relation type
SPZ1	TF binding region
ENSG00000244076	TF binding region
ENSG00000251828	TF binding region
ENSG00000184188	TF binding region
SPZ1	CpG island
ENSG00000244076	CpG island
ENSG00000251828	CpG island
ENSG00000184188	CpG island
ENSG00000164300	chromatin interactions

Extended variants
information (count: 1038 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1038 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574886407	chr5:79592139-79592140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540828973	chr5:79592175-79592176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560735539	chr5:79592176-79592177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577635811	chr5:79592177-79592178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140422046	chr5:79592191-79592192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576481425	chr5:79592222-79592223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369798295	chr5:79592241-79592242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200909849	chr5:79592242-79592243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34068952	chr5:79592262-79592263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13188686	chr5:79592267-79592268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556754428	chr5:79592316-79592317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138191935	chr5:79592321-79592322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372385416	chr5:79592376-79592377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576547568	chr5:79592390-79592391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562216732	chr5:79592442-79592443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116316469	chr5:79592550-79592551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373773324	chr5:79592610-79592611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs70982062	chr5:79592613-79592614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374762119	chr5:79592640-79592641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184944073	chr5:79592641-79592642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190790033	chr5:79592677-79592678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181718660	chr5:79592699-79592700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569355780	chr5:79592727-79592728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112416676	chr5:79592764-79592765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567177546	chr5:79592796-79592797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113730950	chr5:79592822-79592823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113212287	chr5:79592829-79592830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572119277	chr5:79592836-79592837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36084660	chr5:79592881-79592882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187096856	chr5:79592897-79592898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138812914	chr5:79592925-79592926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577599236	chr5:79592929-79592930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546562617	chr5:79592953-79592954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528053044	chr5:79592968-79592969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576311894	chr5:79593005-79593006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181545791	chr5:79593028-79593029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541397859	chr5:79593067-79593068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376690750	chr5:79593069-79593070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142935780	chr5:79593074-79593075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562007940	chr5:79593091-79593092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527812929	chr5:79593108-79593109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191126941	chr5:79593113-79593114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11749041	chr5:79593124-79593125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs56289111	chr5:79593186-79593187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34463055	chr5:79593200-79593201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80312524	chr5:79593201-79593202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13179658	chr5:79593210-79593211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569940359	chr5:79593211-79593212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111624879	chr5:79593213-79593214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528847412	chr5:79593223-79593224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79580600-79595400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:79591800-79592200	Enhancers	Stomach Smooth Muscle	stomach
3	chr5:79595400-79595600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:79595400-79596200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:79595600-79595800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:79595600-79596200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:79595800-79596600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:79596000-79596200	Enhancers	Gastric	stomach
9	chr5:79596200-79596400	Bivalent Enhancer	K562	blood
10	chr5:79596200-79598400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:79596200-79598400	Weak transcription	Gastric	stomach
12	chr5:79598400-79598800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:79598400-79598800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:79598400-79598800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:79598400-79598800	ZNF genes & repeats	Gastric	stomach
16	chr5:79598800-79605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:79600400-79601000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:79600400-79601200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:79600600-79600800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:79600800-79601800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:79601000-79601400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:79601400-79602200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:79601800-79602200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:79603000-79603200	Enhancers	HepG2	liver
25	chr5:79603000-79603800	Active TSS	A549	lung
26	chr5:79603200-79603600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:79603200-79603600	Active TSS	Placenta	Placenta
28	chr5:79603200-79603600	Active TSS	HSMM	muscle
29	chr5:79603200-79603800	Active TSS	HepG2	liver
30	chr5:79603400-79603800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:79604400-79604800	Active TSS	Spleen	Spleen
32	chr5:79605400-79606400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:79606400-79611400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:79611400-79611600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr5:79613600-79614600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:79613800-79614200	Enhancers	Brain Anterior Caudate	brain
37	chr5:79613800-79614400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:79613800-79614600	Enhancers	NHDF-Ad	bronchial
39	chr5:79613800-79614800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:79614000-79614200	Enhancers	Fetal Lung	lung
41	chr5:79614000-79614400	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr5:79614200-79614400	Enhancers	Adipose Nuclei	Adipose

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