Variant report

Variant	nsv1034383
Chromosome Location	chr8:6880050-7011075
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	chr8:6923929-6924081	HepG2	liver:	n/a	n/a
2	BACH1	chr8:6917770-6917960	K562	blood:	n/a	n/a
3	BACH1	chr8:6949393-6949420	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr8:6917803-6918002	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:6976187-6976452	GM12878	blood:	n/a	n/a
6	BATF	chr8:6938472-6938796	GM12878	blood:	n/a	n/a
7	BATF	chr8:6938414-6938789	GM12878	blood:	n/a	n/a
8	BATF	chr8:6929911-6930147	GM12878	blood:	n/a	n/a
9	BATF	chr8:6998432-6998646	GM12878	blood:	n/a	n/a
10	BATF	chr8:6976169-6976555	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:6963184-6963444	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:6975956-6976114	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:6938475-6938727	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:6963128-6963505	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:6884319-6884505	K562	blood:	n/a	n/a
16	BHLHE40	chr8:6893391-6893497	K562	blood:	n/a	n/a
17	CBX3	chr8:7009532-7009840	K562	blood:	n/a	n/a
18	CCNT2	chr8:6920354-6920525	K562	blood:	n/a	n/a
19	CEBPB	chr8:6891441-6891641	HepG2	liver:	n/a	chr8:6891509-6891520
20	CEBPB	chr8:6990758-6990880	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr8:6948092-6948185	HepG2	liver:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
22	CEBPB	chr8:7005819-7006426	K562	blood:	n/a	n/a
23	CEBPB	chr8:6921103-6921303	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr8:6882761-6882780	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr8:6948106-6948176	K562	blood:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
26	CEBPB	chr8:7003837-7004114	K562	blood:	n/a	n/a
27	CEBPB	chr8:6882109-6882181	A549	lung:	n/a	n/a
28	CEBPB	chr8:7005971-7006346	K562	blood:	n/a	n/a
29	CEBPB	chr8:6891492-6891609	Hela-S3	cervix:	n/a	chr8:6891509-6891520
30	CEBPB	chr8:7003781-7004139	K562	blood:	n/a	n/a
31	CEBPB	chr8:6948119-6948147	H1-hESC	embryonic stem cell:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
32	CEBPB	chr8:6990754-6990963	K562	blood:	n/a	n/a
33	CEBPB	chr8:6990652-6990853	K562	blood:	n/a	n/a
34	CEBPD	chr8:7005807-7006267	K562	blood:	n/a	n/a
35	CTCF	chr8:6884287-6884596	GM19239	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
36	CTCF	chr8:6921140-6921290	GM12867	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
37	CTCF	chr8:6893322-6893574	Spleen_OC	spleen:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
38	CTCF	chr8:6884360-6884510	K562	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
39	CTCF	chr8:6893249-6893613	T-47D	breast:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
40	CTCF	chr8:6949580-6949585	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr8:6884297-6884604	GM19238	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
42	CTCF	chr8:6893360-6893510	AG09319	gingival:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
43	CTCF	chr8:6921120-6921270	K562	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
44	CTCF	chr8:6949400-6949550	Hela-S3	cervix:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
45	CTCF	chr8:6929100-6929250	GM12869	blood:	n/a	n/a
46	CTCF	chr8:6893320-6893470	WI-38	lung:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
47	CTCF	chr8:6949380-6949530	HMEC	breast:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
48	CTCF	chr8:6921077-6921313	LNCaP	prostate:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
49	CTCF	chr8:6949260-6949410	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr8:6949111-6949220	Spleen_OC	spleen:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6915107-6915157	HIPEpiC	eye:	n/a
2	chr8:7004738-7004788	NB4	blood:	n/a
3	chr8:7004819-7004869	HCPEpiC	choroid plexus:	n/a
4	chr8:6940624-6940674	GM12892	blood:	n/a
5	chr8:6932644-6932694	AG04449	skin:	fetal
6	chr8:6915107-6915157	HIPEpiC	eye:	n/a
7	chr8:7004738-7004788	NB4	blood:	n/a
8	chr8:7004819-7004869	HCPEpiC	choroid plexus:	n/a
9	chr8:6940624-6940674	GM12892	blood:	n/a
10	chr8:6932644-6932694	AG04449	skin:	fetal
11	chr8:6949415-6949465	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:6924535-6924585	Hela-S3	cervix:	n/a
13	chr8:6946366-6946416	HCF	heart:	n/a
14	chr8:6924737-6924787	HMEC	breast:	n/a
15	chr8:6923300-6923350	HIPEpiC	eye:	n/a
16	chr8:6940624-6940674	SK-N-SH_RA	brain:	n/a
17	chr8:6923300-6923350	HRPEpiC	eye:	n/a
18	chr8:6930612-6930662	ovcar-3	ovarian:	n/a
19	chr8:6924535-6924585	HEEpiC	esophagus:	n/a
20	chr8:6915107-6915157	PrEC	prostate:	n/a
21	chr8:6913441-6913491	HAEpiC	amniotic membrane:	n/a
22	chr8:6949404-6949454	AoSMC	blood vessel:	n/a
23	chr8:7005011-7005061	ovcar-3	ovarian:	n/a
24	chr8:6931180-6931230	HCT-116	colon:	n/a
25	chr8:6953040-6953090	AG04450	lung:	fetal
26	chr8:6946366-6946416	NT2-D1	testis:	n/a
27	chr8:6922925-6922975	BJ	skin:	n/a
28	chr8:6949404-6949454	HEK293	kidney:	embryo
29	chr8:6932793-6932843	ProgFib	skin:	n/a
30	chr8:6949321-6949371	HIPEpiC	eye:	n/a
31	chr8:6953040-6953090	A549	lung:	n/a
32	chr8:7005011-7005061	AG04449	skin:	fetal
33	chr8:6922705-6922755	BE2_C	brain:	n/a
34	chr8:6914549-6914599	HCPEpiC	choroid plexus:	n/a
35	chr8:6922512-6922562	HCPEpiC	choroid plexus:	n/a
36	chr8:7009699-7009749	SK-N-SH	brain:	n/a
37	chr8:6931195-6931245	PANC-1	pancreas:	n/a
38	chr8:6932644-6932694	GM12891	blood:	n/a
39	chr8:7005562-7005612	Hela-S3	cervix:	n/a
40	chr8:6940624-6940674	RPTEC	kidney:	n/a
41	chr8:6924737-6924787	PANC-1	pancreas:	n/a
42	chr8:7004944-7004994	MCF10A-Er-Src	breast:	n/a
43	chr8:6940702-6940752	GM12891	blood:	n/a
44	chr8:7004738-7004788	HNPCEpiC	eye:	n/a
45	chr8:6914549-6914599	NHDF-neo	bronchial:	n/a
46	chr8:6950038-6950088	AG04449	skin:	fetal
47	chr8:7005678-7005728	BE2_C	brain:	n/a
48	chr8:6949404-6949454	LNCaP	prostate:	n/a
49	chr8:6914420-6914470	SK-N-SH_RA	brain:	n/a
50	chr8:7009699-7009749	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6909298..6911285-chr8:6912423..6915127,2	MCF-7	breast:
2	chr8:6786179..6786989-chr8:6884046..6884889,4	MCF-7	breast:
3	chr8:6899597..6901934-chr8:6903996..6906474,2	K562	blood:
4	chr8:6876740..6878297-chr8:6880024..6881649,2	K562	blood:
5	chr7:105516677..105517395-chr8:6930845..6931347,2	Hela-S3	cervix:
6	chr8:6899597..6901934-chr8:6903996..6906474,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA5-1	chr8:6896790-6896961	NONHSAT124809
2	lnc-DEFA3-2	chr8:6886123-6886250	NONHSAT124808
3	lnc-DEFA5-1	chr8:6896093-6896205	NONHSAT124809
4	lnc-DEFA3-2	chr8:6886839-6887011	NONHSAT124808
5	lnc-DEFA5-2	chr8:7001154-7001363	NONHSAT124813
6	lnc-DEFB105B-4	chr8:7010239-7010328	NONHSAT124814

Variant related genes	Relation type
ENSG00000234120	TF binding region
DEFA11P	TF binding region
DEFA3	TF binding region
DEFA1B	TF binding region
ENSG00000254683	TF binding region
DEFA5	TF binding region
ENSG00000216206	TF binding region
ENSG00000255273	TF binding region
RPS3AP30	TF binding region
DEFA7P	TF binding region
ENSG00000234120	CpG island
DEFA11P	CpG island
DEFA3	CpG island
DEFA1B	CpG island
ENSG00000254683	CpG island
DEFA5	CpG island
ENSG00000216206	CpG island
ENSG00000255273	CpG island
RPS3AP30	CpG island
DEFA7P	CpG island
ENSG00000146776	chromatin interactions
ENSG00000128536	chromatin interactions
ENSG00000164816	chromatin interactions

Extended variants
information (count: 5757 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:5757 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545958276	chr8:6880055-6880056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200478862	chr8:6880057-6880058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190976109	chr8:6880058-6880059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62487514	chr8:6880094-6880095	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542147283	chr8:6880103-6880104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182451929	chr8:6880115-6880116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547791329	chr8:6880119-6880120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564206400	chr8:6880126-6880127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78582717	chr8:6880145-6880146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149015900	chr8:6880152-6880153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568702644	chr8:6880170-6880171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373297731	chr8:6880181-6880182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186789091	chr8:6880194-6880195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548139079	chr8:6880195-6880196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566818931	chr8:6880215-6880216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568367801	chr8:6880227-6880228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533523123	chr8:6880258-6880259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539861991	chr8:6880263-6880264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190261747	chr8:6880270-6880271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183129775	chr8:6880271-6880272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6983783	chr8:6880282-6880283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556332672	chr8:6880283-6880284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576667864	chr8:6880313-6880314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188458046	chr8:6880316-6880317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145530452	chr8:6880326-6880327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572712979	chr8:6880334-6880335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541395060	chr8:6880336-6880337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544409401	chr8:6880347-6880348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60839016	chr8:6880366-6880367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79541928	chr8:6880385-6880386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543471098	chr8:6880408-6880409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563446701	chr8:6880428-6880429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193182453	chr8:6880466-6880467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548381814	chr8:6880469-6880470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568199580	chr8:6880489-6880490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147731272	chr8:6880508-6880509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547764214	chr8:6880516-6880517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17382102	chr8:6880521-6880522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539447375	chr8:6880522-6880523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142422290	chr8:6880526-6880527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554654742	chr8:6880565-6880566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4300027	chr8:6880575-6880576	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554821403	chr8:6880578-6880579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4512398	chr8:6880594-6880595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56866449	chr8:6880601-6880602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185104459	chr8:6880606-6880607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368882662	chr8:6880622-6880623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558040031	chr8:6880623-6880624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373081855	chr8:6880655-6880656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577569177	chr8:6880675-6880676	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:145)

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
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	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
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD
Incontinentia Pigmenti	22033527	CNVD
early-passage human iPS cells	21368824	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6873400-6884600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:6879800-6881200	Enhancers	Dnd41	blood
3	chr8:6881200-6881400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
4	chr8:6882000-6882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6882200-6882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:6883200-6883400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:6883800-6884000	Bivalent Enhancer	Fetal Intestine Large	intestine
8	chr8:6884200-6884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:6884400-6884600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:6884600-6885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:6884600-6885000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr8:6884600-6885000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:6886800-6887000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:6892800-6901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:6896200-6900400	Enhancers	Dnd41	blood
16	chr8:6898400-6901600	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr8:6899000-6900000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:6899200-6900600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
19	chr8:6899200-6900800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:6899600-6900400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
21	chr8:6899600-6900600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr8:6899600-6901000	Enhancers	Spleen	Spleen
23	chr8:6900000-6900400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:6900400-6901000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:6901000-6901200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:6901600-6903600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:6903600-6905200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:6905000-6905200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:6905200-6905400	Bivalent Enhancer	Esophagus	oesophagus
30	chr8:6907200-6908800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:6929200-6929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr8:6930200-6930600	Enhancers	Placenta	Placenta
33	chr8:6930200-6930800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:6937000-6940000	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:6937200-6940000	Enhancers	Primary B cells from cord blood	blood
36	chr8:6938400-6939400	Enhancers	GM12878-XiMat	blood
37	chr8:6940600-6940800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:6940600-6940800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:6940600-6940800	Enhancers	Spleen	Spleen
40	chr8:6944800-6945000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:6945200-6945400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:6945200-6947000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:6945400-6945600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:6945400-6946400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:6945600-6945800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr8:6945600-6946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:6946000-6947200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:6946200-6946400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr8:6946400-6946800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:6946400-6948000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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