Variant report

Variant	nsv1020749
Chromosome Location	chr8:6882393-6999220
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	chr8:6949393-6949420	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:6917770-6917960	K562	blood:	n/a	n/a
4	BACH1	chr8:6917803-6918002	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr8:6976169-6976555	GM12878	blood:	n/a	n/a
6	BATF	chr8:6938472-6938796	GM12878	blood:	n/a	n/a
7	BATF	chr8:6976187-6976452	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	chr8:6938414-6938789	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:6938475-6938727	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:6975956-6976114	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:6963128-6963505	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:6963184-6963444	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:6893391-6893497	K562	blood:	n/a	n/a
16	BHLHE40	chr8:6884319-6884505	K562	blood:	n/a	n/a
17	CCNT2	chr8:6920354-6920525	K562	blood:	n/a	n/a
18	CEBPB	chr8:6948106-6948176	K562	blood:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
19	CEBPB	chr8:6990758-6990880	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr8:6948119-6948147	H1-hESC	embryonic stem cell:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
21	CEBPB	chr8:6891441-6891641	HepG2	liver:	n/a	chr8:6891509-6891520
22	CEBPB	chr8:6882761-6882780	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr8:6891492-6891609	Hela-S3	cervix:	n/a	chr8:6891509-6891520
24	CEBPB	chr8:6948092-6948185	HepG2	liver:	n/a	chr8:6948133-6948142 chr8:6948131-6948144 chr8:6948132-6948143
25	CEBPB	chr8:6921103-6921303	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr8:6990754-6990963	K562	blood:	n/a	n/a
27	CEBPB	chr8:6990652-6990853	K562	blood:	n/a	n/a
28	CTCF	chr8:6921140-6921290	SK-N-SH_RA	brain:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
29	CTCF	chr8:6949360-6949510	GM12873	blood:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
30	CTCF	chr8:6948940-6949090	GM12866	blood:	n/a	n/a
31	CTCF	chr8:6884340-6884490	HCM	heart:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
32	CTCF	chr8:6921077-6921313	LNCaP	prostate:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
33	CTCF	chr8:6884360-6884510	GM12865	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
34	CTCF	chr8:6949128-6949248	GM10248	blood:	n/a	n/a
35	CTCF	chr8:6966320-6966470	GM12873	blood:	n/a	n/a
36	CTCF	chr8:6921140-6921290	HUVEC	blood vessel:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
37	CTCF	chr8:6921120-6921270	BJ	skin:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
38	CTCF	chr8:6949283-6949566	NHEK	skin:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
39	CTCF	chr8:6893360-6893510	NHEK	skin:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
40	CTCF	chr8:6893320-6893470	NB4	blood:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
41	CTCF	chr8:6949275-6949577	GM12891	blood:	n/a	chr8:6949447-6949468 chr8:6949445-6949463 chr8:6949448-6949461 chr8:6949448-6949461 chr8:6949446-6949462
42	CTCF	chr8:6948580-6948730	GM12865	blood:	n/a	n/a
43	CTCF	chr8:6949140-6949290	GM12875	blood:	n/a	n/a
44	CTCF	chr8:6921076-6921336	K562	blood:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
45	CTCF	chr8:6884340-6884490	HMF	breast:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
46	CTCF	chr8:6884303-6884595	Gliobla	brain:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
47	CTCF	chr8:6921080-6921230	RPTEC	kidney:	n/a	chr8:6921200-6921213 chr8:6921197-6921215 chr8:6921203-6921216 chr8:6921200-6921209
48	CTCF	chr8:6884299-6884607	GM12892	blood:	n/a	chr8:6884448-6884469 chr8:6884451-6884461 chr8:6884446-6884464 chr8:6884447-6884463
49	CTCF	chr8:6893380-6893530	NHDF-neo	bronchial:	n/a	chr8:6893450-6893463 chr8:6893447-6893465 chr8:6893448-6893464
50	CTCF	chr8:6983700-6983850	HEK293	kidney:	n/a	chr8:6983718-6983731

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:6923300-6923350	HEEpiC	esophagus:	n/a
2	chr8:6940624-6940674	SK-N-SH_RA	brain:	n/a
3	chr8:6914838-6914888	HepG2	liver:	n/a
4	chr8:6923300-6923350	HEEpiC	esophagus:	n/a
5	chr8:6940624-6940674	SK-N-SH_RA	brain:	n/a
6	chr8:6914838-6914888	HepG2	liver:	n/a
7	chr8:6914420-6914470	AG10803	skin:	n/a
8	chr8:6940591-6940641	Jurkat	blood:	n/a
9	chr8:6914838-6914888	CMK	blood:	n/a
10	chr8:6950038-6950088	GM12878	blood:	n/a
11	chr8:6950038-6950088	HRE	kidney:	n/a
12	chr8:6932742-6932792	NH-A	brain:	n/a
13	chr8:6924535-6924585	LNCaP	prostate:	n/a
14	chr8:6923300-6923350	RPTEC	kidney:	n/a
15	chr8:6922925-6922975	SAEC	small airway:	n/a
16	chr8:6914420-6914470	HCT-116	colon:	n/a
17	chr8:6922512-6922562	RPTEC	kidney:	n/a
18	chr8:6953040-6953090	AoSMC	blood vessel:	n/a
19	chr8:6922512-6922562	HMEC	breast:	n/a
20	chr8:6940702-6940752	NT2-D1	testis:	n/a
21	chr8:6953040-6953090	HRE	kidney:	n/a
22	chr8:6924535-6924585	HRE	kidney:	n/a
23	chr8:6949321-6949371	HepG2	liver:	n/a
24	chr8:6932644-6932694	NT2-D1	testis:	n/a
25	chr8:6931180-6931230	HCT-116	colon:	n/a
26	chr8:6924637-6924687	NT2-D1	testis:	n/a
27	chr8:6940702-6940752	HCT-116	colon:	n/a
28	chr8:6940624-6940674	PANC-1	pancreas:	n/a
29	chr8:6940702-6940752	PFSK-1	brain:	n/a
30	chr8:6924637-6924687	AG10803	skin:	n/a
31	chr8:6949415-6949465	Jurkat	blood:	n/a
32	chr8:6923300-6923350	AG10803	skin:	n/a
33	chr8:6914420-6914470	HEK293	kidney:	embryo
34	chr8:6924535-6924585	HRCEpiC	kidney:	n/a
35	chr8:6940624-6940674	MCF-7	breast:	n/a
36	chr8:6932644-6932694	HEK293	kidney:	embryo
37	chr8:6924535-6924585	Hela-S3	cervix:	n/a
38	chr8:6923399-6923449	BE2_C	brain:	n/a
39	chr8:6946366-6946416	HRCEpiC	kidney:	n/a
40	chr8:6914420-6914470	HCPEpiC	choroid plexus:	n/a
41	chr8:6949321-6949371	HUVEC	blood vessel:	n/a
42	chr8:6914838-6914888	SK-N-SH_RA	brain:	n/a
43	chr8:6949415-6949465	SKMC	muscle:	n/a
44	chr8:6930612-6930662	H1-hESC	embryonic stem cell:	embryo
45	chr8:6913441-6913491	HCM	heart:	n/a
46	chr8:6931180-6931230	GM06990	blood:	n/a
47	chr8:6931195-6931245	ECC-1	luminal epithelium:	n/a
48	chr8:6914420-6914470	T-47D	breast:	n/a
49	chr8:6914549-6914599	GM12892	blood:	n/a
50	chr8:6932644-6932694	NB4	blood:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFA3-2	chr8:6886839-6887011	NONHSAT124808
2	lnc-DEFA5-1	chr8:6896790-6896961	NONHSAT124809
3	lnc-DEFA3-2	chr8:6886123-6886250	NONHSAT124808
4	lnc-DEFA5-1	chr8:6896093-6896205	NONHSAT124809

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

Extended variants
information (count: 4472 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:4472 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs883182	chr8:6882393-6882394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186738003	chr8:6882402-6882403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77787266	chr8:6882451-6882452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569863821	chr8:6882465-6882466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4481622	chr8:6882477-6882478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537851947	chr8:6882482-6882483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554340825	chr8:6882495-6882496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192777481	chr8:6882504-6882505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533486306	chr8:6882543-6882544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540357213	chr8:6882558-6882559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560663999	chr8:6882567-6882568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546739325	chr8:6882606-6882607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577551313	chr8:6882617-6882618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184294901	chr8:6882618-6882619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148963239	chr8:6882619-6882620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553846748	chr8:6882682-6882683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190008393	chr8:6882690-6882691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11783110	chr8:6882691-6882692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561976800	chr8:6882726-6882727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181268637	chr8:6882755-6882756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4314670	chr8:6882766-6882767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184552903	chr8:6882782-6882783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532186840	chr8:6882807-6882808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4332158	chr8:6882810-6882811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188915658	chr8:6882830-6882831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568388941	chr8:6882836-6882837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4332159	chr8:6882849-6882850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs372679363	chr8:6882852-6882853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557133789	chr8:6882855-6882856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553911802	chr8:6882857-6882858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577464811	chr8:6882862-6882863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77223552	chr8:6882865-6882866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556543193	chr8:6882897-6882898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576660625	chr8:6882903-6882904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181984332	chr8:6882910-6882911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141228479	chr8:6882914-6882915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527722415	chr8:6882918-6882919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116232502	chr8:6882930-6882931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375952590	chr8:6882939-6882940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144835169	chr8:6882946-6882947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539522303	chr8:6882971-6882972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186522806	chr8:6883010-6883011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116853737	chr8:6883017-6883018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370841065	chr8:6883024-6883025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531630680	chr8:6883026-6883027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548226557	chr8:6883028-6883029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568016532	chr8:6883048-6883049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533772029	chr8:6883059-6883060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561042317	chr8:6883070-6883071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28572307	chr8:6883090-6883091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:276 , 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	chr8:6882000-6882400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:6882200-6882400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:6883200-6883400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:6883800-6884000	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr8:6884200-6884800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:6884400-6884600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:6884600-6885000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:6884600-6885000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr8:6884600-6885000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:6886800-6887000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:6892800-6901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:6896200-6900400	Enhancers	Dnd41	blood
14	chr8:6898400-6901600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:6899000-6900000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:6899200-6900600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
17	chr8:6899200-6900800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:6899600-6900400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
19	chr8:6899600-6900600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr8:6899600-6901000	Enhancers	Spleen	Spleen
21	chr8:6900000-6900400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:6900400-6901000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:6901000-6901200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:6901600-6903600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:6903600-6905200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:6905000-6905200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:6905200-6905400	Bivalent Enhancer	Esophagus	oesophagus
28	chr8:6907200-6908800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:6929200-6929600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:6930200-6930600	Enhancers	Placenta	Placenta
31	chr8:6930200-6930800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:6937000-6940000	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:6937200-6940000	Enhancers	Primary B cells from cord blood	blood
34	chr8:6938400-6939400	Enhancers	GM12878-XiMat	blood
35	chr8:6940600-6940800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:6940600-6940800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:6940600-6940800	Enhancers	Spleen	Spleen
38	chr8:6944800-6945000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:6945200-6945400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:6945200-6947000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr8:6945400-6945600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr8:6945400-6946400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:6945600-6945800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr8:6945600-6946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:6946000-6947200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:6946200-6946400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:6946400-6946800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:6946400-6948000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr8:6946400-6948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:6946600-6947200	Enhancers	HUES6 Cell Line	embryonic stem cell

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