Variant report

Variant	esv1820995
Chromosome Location	chr8:6802546-6882130
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	ATF1	chr8:6829807-6830004	K562	blood:	n/a	n/a
2	BACH1	chr8:6815704-6815918	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:6829927-6829940	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr8:6825706-6825903	K562	blood:	n/a	chr8:6825850-6825859 chr8:6825848-6825857 chr8:6825847-6825860 chr8:6825849-6825858 chr8:6825843-6825864 chr8:6825849-6825858
5	BHLHE40	chr8:6815759-6815899	K562	blood:	n/a	chr8:6815801-6815817
6	BRCA1	chr8:6815742-6815942	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr8:6872820-6873018	HepG2	liver:	n/a	chr8:6872838-6872849 chr8:6872837-6872848
8	CEBPB	chr8:6805017-6805075	HepG2	liver:	n/a	chr8:6805026-6805037
9	CEBPB	chr8:6804991-6805097	A549	lung:	n/a	chr8:6805026-6805037
10	CEBPB	chr8:6805035-6805075	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:6882109-6882181	A549	lung:	n/a	n/a
12	CHD2	chr8:6815705-6815992	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr8:6812935-6812952	HepG2	liver:	n/a	n/a
14	CTCF	chr8:6875862-6875906	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr8:6815631-6815936	ProgFib	skin:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
16	CTCF	chr8:6827997-6828044	Gliobla	brain:	n/a	n/a
17	CTCF	chr8:6815720-6815870	GM12872	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
18	CTCF	chr8:6815497-6815554	GM10266	blood:	n/a	n/a
19	CTCF	chr8:6815581-6815964	K562	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
20	CTCF	chr8:6807100-6807250	GM12866	blood:	n/a	n/a
21	CTCF	chr8:6815700-6815850	NHDF-neo	bronchial:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
22	CTCF	chr8:6815566-6815568	LNCaP	prostate:	n/a	n/a
23	CTCF	chr8:6815658-6815931	GM13977	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
24	CTCF	chr8:6815760-6815910	K562	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
25	CTCF	chr8:6815660-6815810	HEEpiC	esophagus:	n/a	chr8:6815785-6815798
26	CTCF	chr8:6811137-6811340	K562	blood:	n/a	n/a
27	CTCF	chr8:6815680-6815830	HFF-Myc	foreskin:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
28	CTCF	chr8:6815700-6815850	GM12871	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
29	CTCF	chr8:6870668-6870718	Lung_OC	lung:	n/a	n/a
30	CTCF	chr8:6811084-6811409	K562	blood:	n/a	n/a
31	CTCF	chr8:6815720-6815870	HUVEC	blood vessel:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
32	CTCF	chr8:6807160-6807310	GM12874	blood:	n/a	chr8:6807254-6807270 chr8:6807258-6807268 chr8:6807253-6807271 chr8:6807255-6807276
33	CTCF	chr8:6807180-6807330	GM12873	blood:	n/a	chr8:6807254-6807270 chr8:6807258-6807268 chr8:6807253-6807271 chr8:6807255-6807276
34	CTCF	chr8:6815880-6816030	HFF-Myc	foreskin:	n/a	n/a
35	CTCF	chr8:6815660-6815810	HVMF	connective:	n/a	chr8:6815785-6815798
36	CTCF	chr8:6815413-6816181	SK-N-SH	brain:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
37	CTCF	chr8:6811212-6811289	GM19238	blood:	n/a	n/a
38	CTCF	chr8:6815720-6815870	WERI-Rb-1	eye:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
39	CTCF	chr8:6811200-6811350	K562	blood:	n/a	n/a
40	CTCF	chr8:6807147-6807362	MCF-7	breast:	n/a	chr8:6807254-6807270 chr8:6807258-6807268 chr8:6807253-6807271 chr8:6807255-6807276
41	CTCF	chr8:6807160-6807310	GM12866	blood:	n/a	chr8:6807254-6807270 chr8:6807258-6807268 chr8:6807253-6807271 chr8:6807255-6807276
42	CTCF	chr8:6807100-6807250	A549	lung:	n/a	n/a
43	CTCF	chr8:6815595-6815989	GM12878	blood:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
44	CTCF	chr8:6807140-6807290	HCT-116	colon:	n/a	chr8:6807254-6807270 chr8:6807258-6807268 chr8:6807253-6807271 chr8:6807255-6807276
45	CTCF	chr8:6811180-6811330	HepG2	liver:	n/a	n/a
46	CTCF	chr8:6815660-6815810	HepG2	liver:	n/a	chr8:6815785-6815798
47	CTCF	chr8:6815720-6815870	BJ	skin:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
48	CTCF	chr8:6815634-6815947	MCF-7	breast:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
49	CTCF	chr8:6815680-6815898	A549	lung:	n/a	chr8:6815799-6815820 chr8:6815800-6815813 chr8:6815802-6815812 chr8:6815785-6815798 chr8:6815797-6815815 chr8:6815798-6815814
50	CTCF	chr8:6815660-6815810	MCF-7	breast:	n/a	chr8:6815785-6815798

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6838024-6838074	CMK	blood:	n/a
2	chr8:6826392-6826442	HCM	heart:	n/a
3	chr8:6838024-6838074	CMK	blood:	n/a
4	chr8:6826392-6826442	HCM	heart:	n/a
5	chr8:6876155-6876205	NHBE	bronchial:	n/a
6	chr8:6838024-6838074	SK-N-SH_RA	brain:	n/a
7	chr8:6827814-6827864	GM12891	blood:	n/a
8	chr8:6873754-6873804	AG04450	lung:	fetal
9	chr8:6875661-6875711	HCPEpiC	choroid plexus:	n/a
10	chr8:6876155-6876205	HEK293	kidney:	embryo
11	chr8:6837932-6837982	HCF	heart:	n/a
12	chr8:6828103-6828153	MCF10A-Er-Src	breast:	n/a
13	chr8:6876155-6876205	ProgFib	skin:	n/a
14	chr8:6876781-6876831	BJ	skin:	n/a
15	chr8:6876155-6876205	HAEpiC	amniotic membrane:	n/a
16	chr8:6827800-6827850	HNPCEpiC	eye:	n/a
17	chr8:6875661-6875711	NHDF-neo	bronchial:	n/a
18	chr8:6827814-6827864	RPTEC	kidney:	n/a
19	chr8:6876781-6876831	LNCaP	prostate:	n/a
20	chr8:6826392-6826442	GM06990	blood:	n/a
21	chr8:6838024-6838074	AG09319	gingival:	n/a
22	chr8:6828103-6828153	HEK293	kidney:	embryo
23	chr8:6876695-6876745	SAEC	small airway:	n/a
24	chr8:6875661-6875711	SK-N-SH	brain:	n/a
25	chr8:6875661-6875711	SAEC	small airway:	n/a
26	chr8:6873754-6873804	NT2-D1	testis:	n/a
27	chr8:6876781-6876831	H1-hESC	embryonic stem cell:	embryo
28	chr8:6838024-6838074	SAEC	small airway:	n/a
29	chr8:6837932-6837982	HCPEpiC	choroid plexus:	n/a
30	chr8:6826392-6826442	Caco-2	colon:	n/a
31	chr8:6826392-6826442	IMR90	lung:	fetal
32	chr8:6827800-6827850	MCF-7	breast:	n/a
33	chr8:6837932-6837982	NHBE	bronchial:	n/a
34	chr8:6838024-6838074	U87	brain:	n/a
35	chr8:6827814-6827864	HNPCEpiC	eye:	n/a
36	chr8:6838024-6838074	HCPEpiC	choroid plexus:	n/a
37	chr8:6876155-6876205	HCF	heart:	n/a
38	chr8:6876695-6876745	HRCEpiC	kidney:	n/a
39	chr8:6873754-6873804	NHBE	bronchial:	n/a
40	chr8:6828103-6828153	HRE	kidney:	n/a
41	chr8:6827814-6827864	HRCEpiC	kidney:	n/a
42	chr8:6826392-6826442	Hela-S3	cervix:	n/a
43	chr8:6838024-6838074	NB4	blood:	n/a
44	chr8:6875661-6875711	RPTEC	kidney:	n/a
45	chr8:6828103-6828153	HUVEC	blood vessel:	n/a
46	chr8:6837932-6837982	GM12878	blood:	n/a
47	chr8:6828103-6828153	ovcar-3	ovarian:	n/a
48	chr8:6828103-6828153	BE2_C	brain:	n/a
49	chr8:6827800-6827850	HRE	kidney:	n/a
50	chr8:6876781-6876831	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6698096..6698895-chr8:6806928..6807708,2	K562	blood:
2	chr8:6813895..6816114-chr8:6818168..6820677,2	MCF-7	breast:
3	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:
4	chr8:6813895..6816114-chr8:6818168..6820677,2	MCF-7	breast:
5	chr8:6810171..6811870-chr8:6814020..6816721,2	K562	blood:
6	chr8:6810171..6811870-chr8:6814020..6816721,2	K562	blood:
7	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:
8	chr8:6796114..6798602-chr8:6803030..6805863,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA4-1	chr8:6808950-6809121	NONHSAT124800
2	lnc-DEFA1-1	chr8:6826452-6826635	NONHSAT124802
3	lnc-DEFA1-2	chr8:6816811-6816923	NONHSAT124801
4	lnc-DEFA1-2	chr8:6817512-6817683	NONHSAT124801
5	lnc-DEFA1B-1	chr8:6847181-6847243	NONHSAT124804
6	lnc-DEFA1B-1	chr8:6844700-6844945	NONHSAT124804
7	lnc-DEFA4-1	chr8:6808248-6808360	NONHSAT124800
8	lnc-DEFA1-1	chr8:6826461-6826635	NONHSAT124803
9	lnc-DEFA1B-1	chr8:6845622-6845808	NONHSAT124804
10	lnc-DEFA1-1	chr8:6825663-6825775	NONHSAT124803
11	lnc-DEFA1-1	chr8:6825663-6825769	NONHSAT124802

Variant related genes	Relation type
DEFA9P	TF binding region
DEFA8P	TF binding region
DEFA3	TF binding region
DEFT1P	TF binding region
DEFA1B	TF binding region
DEFT1P2	TF binding region
DEFA10P	TF binding region
DEFA1	TF binding region
DEFA9P	CpG island
DEFA8P	CpG island
DEFA3	CpG island
DEFT1P	CpG island
DEFA1B	CpG island
DEFT1P2	CpG island
DEFA10P	CpG island
DEFA1	CpG island

Extended variants
information (count: 2901 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:2901 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542325436	chr8:6802562-6802563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188723615	chr8:6802611-6802612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573429832	chr8:6802612-6802613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62488513	chr8:6802627-6802628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12056400	chr8:6802629-6802630	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531227051	chr8:6802639-6802640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544917972	chr8:6802660-6802661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561109931	chr8:6802686-6802687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12056552	chr8:6802711-6802712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191972801	chr8:6802776-6802777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2702880	chr8:6802784-6802785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184263874	chr8:6802809-6802810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563213364	chr8:6802815-6802816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551160122	chr8:6802829-6802830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117508797	chr8:6802839-6802840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536933092	chr8:6802841-6802842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151104019	chr8:6802854-6802855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567124078	chr8:6802881-6802882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536248928	chr8:6802892-6802893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372675785	chr8:6802895-6802896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553063125	chr8:6802900-6802901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572966288	chr8:6802903-6802904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538784283	chr8:6802928-6802929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189463578	chr8:6802943-6802944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573307368	chr8:6802952-6802953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575827159	chr8:6802989-6802990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375045454	chr8:6803006-6803007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544543478	chr8:6803030-6803031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111977655	chr8:6803034-6803035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562332541	chr8:6803038-6803039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150243483	chr8:6803085-6803086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192460792	chr8:6803115-6803116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369344165	chr8:6803119-6803120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377043487	chr8:6803133-6803134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533662260	chr8:6803138-6803139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552288456	chr8:6803151-6803152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138917582	chr8:6803184-6803185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184677999	chr8:6803214-6803215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28467176	chr8:6803223-6803224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143088005	chr8:6803224-6803225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536194896	chr8:6803226-6803227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546617436	chr8:6803251-6803252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566500355	chr8:6803269-6803270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147052873	chr8:6803279-6803280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558701595	chr8:6803307-6803308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575720964	chr8:6803316-6803317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538433645	chr8:6803363-6803364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554920939	chr8:6803429-6803430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575066052	chr8:6803485-6803486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138408590	chr8:6803494-6803495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Autism	21865298	CNVD
Pancreatic cancer	17952125	CNVD
Behcet''s disease	22219625	CNVD
Crohn''s disease	21701837	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6794600-6829200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:6799600-6802800	Enhancers	Dnd41	blood
3	chr8:6800200-6803200	Enhancers	Fetal Thymus	thymus
4	chr8:6800200-6804000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:6800800-6802800	Enhancers	Thymus	Thymus
6	chr8:6801600-6808800	Weak transcription	Spleen	Spleen
7	chr8:6802800-6805000	Weak transcription	Dnd41	blood
8	chr8:6802800-6806400	Weak transcription	Thymus	Thymus
9	chr8:6803200-6806400	Weak transcription	Fetal Thymus	thymus
10	chr8:6804000-6804400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:6804400-6812400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:6805000-6805200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
13	chr8:6805000-6810200	Enhancers	Dnd41	blood
14	chr8:6806200-6806400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr8:6806400-6807600	Enhancers	Thymus	Thymus
16	chr8:6806400-6813000	Enhancers	Fetal Thymus	thymus
17	chr8:6806600-6806800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
18	chr8:6807600-6808800	Weak transcription	Thymus	Thymus
19	chr8:6808800-6812200	Enhancers	Thymus	Thymus
20	chr8:6809200-6809400	Enhancers	Spleen	Spleen
21	chr8:6810200-6811000	Flanking Active TSS	Dnd41	blood
22	chr8:6810800-6811800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr8:6811000-6818000	Enhancers	Dnd41	blood
24	chr8:6811200-6811800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr8:6812200-6813000	Weak transcription	Thymus	Thymus
26	chr8:6812400-6814400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:6813000-6813800	Enhancers	Thymus	Thymus
28	chr8:6813000-6814000	Weak transcription	Fetal Thymus	thymus
29	chr8:6813800-6815000	Weak transcription	Thymus	Thymus
30	chr8:6814000-6814200	Enhancers	Fetal Thymus	thymus
31	chr8:6814200-6814600	Weak transcription	Fetal Thymus	thymus
32	chr8:6814400-6816200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:6814600-6817000	Enhancers	Fetal Thymus	thymus
34	chr8:6815000-6815800	Enhancers	Thymus	Thymus
35	chr8:6816200-6817400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:6817000-6817600	Weak transcription	Fetal Thymus	thymus
37	chr8:6817400-6818800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:6817600-6817800	Enhancers	Fetal Thymus	thymus
39	chr8:6817600-6817800	Flanking Active TSS	Lung	lung
40	chr8:6817800-6820600	Weak transcription	Fetal Thymus	thymus
41	chr8:6818000-6820400	Weak transcription	Dnd41	blood
42	chr8:6818800-6822800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:6820400-6821800	Enhancers	Dnd41	blood
44	chr8:6820600-6821600	Enhancers	Fetal Thymus	thymus
45	chr8:6821400-6821800	Enhancers	Thymus	Thymus
46	chr8:6822800-6830000	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:6824000-6824800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr8:6824200-6824600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:6824400-6824800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
50	chr8:6824600-6824800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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