Variant report

Variant	nsv889094
Chromosome Location	chr7:117981820-118186543
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	chr7:118012833-118013033	K562	blood:	n/a	n/a
2	ARID3A	chr7:118003789-118004112	HepG2	liver:	n/a	n/a
3	ATF1	chr7:117993047-117993169	K562	blood:	n/a	n/a
4	ATF1	chr7:118012742-118013071	K562	blood:	n/a	n/a
5	BACH1	chr7:117986800-117987119	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr7:117994314-117994318	GM12878	blood:	n/a	n/a
7	BHLHE40	chr7:118006662-118006668	K562	blood:	n/a	n/a
8	BHLHE40	chr7:118010227-118010298	K562	blood:	n/a	n/a
9	BHLHE40	chr7:118003724-118004056	HepG2	liver:	n/a	n/a
10	CBX3	chr7:118121291-118121673	K562	blood:	n/a	n/a
11	CCNT2	chr7:118031384-118031548	K562	blood:	n/a	n/a
12	CEBPB	chr7:118051023-118051220	A549	lung:	n/a	chr7:118051207-118051220
13	CEBPB	chr7:117992858-117993449	HCT-116	colon:	n/a	chr7:117993322-117993335
14	CEBPB	chr7:118118707-118118968	HepG2	liver:	n/a	chr7:118118794-118118805
15	CEBPB	chr7:118015270-118015535	K562	blood:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
16	CEBPB	chr7:118164057-118164303	IMR90	lung:	n/a	n/a
17	CEBPB	chr7:118157869-118158117	K562	blood:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
18	CEBPB	chr7:118015257-118015542	A549	lung:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
19	CEBPB	chr7:118015285-118015597	HepG2	liver:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
20	CEBPB	chr7:118048250-118048491	A549	lung:	n/a	n/a
21	CEBPB	chr7:118053690-118053894	IMR90	lung:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
22	CEBPB	chr7:118118740-118118930	H1-hESC	embryonic stem cell:	n/a	chr7:118118794-118118805
23	CEBPB	chr7:118009042-118009326	HepG2	liver:	n/a	chr7:118009179-118009190
24	CEBPB	chr7:118009030-118009409	A549	lung:	n/a	chr7:118009179-118009190
25	CEBPB	chr7:118118721-118118929	K562	blood:	n/a	chr7:118118794-118118805
26	CEBPB	chr7:118019508-118019872	HepG2	liver:	n/a	chr7:118019682-118019693
27	CEBPB	chr7:118102908-118103052	K562	blood:	n/a	chr7:118102943-118102954
28	CEBPB	chr7:118019517-118019842	A549	lung:	n/a	chr7:118019682-118019693
29	CEBPB	chr7:118102849-118103117	HepG2	liver:	n/a	chr7:118102943-118102954
30	CEBPB	chr7:117993002-117993319	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr7:118053667-118053871	HepG2	liver:	n/a	chr7:118053800-118053817 chr7:118053805-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053816 chr7:118053803-118053814
32	CEBPB	chr7:118019603-118019854	K562	blood:	n/a	chr7:118019682-118019693
33	CEBPB	chr7:118015255-118015604	IMR90	lung:	n/a	chr7:118015417-118015426 chr7:118015415-118015426 chr7:118015417-118015428 chr7:118015412-118015429
34	CEBPB	chr7:118157947-118158188	HepG2	liver:	n/a	chr7:118158039-118158050 chr7:118158037-118158050 chr7:118158037-118158048
35	CEBPB	chr7:118118651-118118956	IMR90	lung:	n/a	chr7:118118794-118118805
36	CEBPB	chr7:118019539-118019852	IMR90	lung:	n/a	chr7:118019682-118019693
37	CTCF	chr7:118147060-118147210	HMEC	breast:	n/a	n/a
38	CTCF	chr7:117992964-117993260	SK-N-SH_RA	brain:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
39	CTCF	chr7:118147120-118147270	HEK293	kidney:	n/a	n/a
40	CTCF	chr7:118147150-118147228	GM12878	blood:	n/a	n/a
41	CTCF	chr7:117992980-117993130	NHEK	skin:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
42	CTCF	chr7:117993028-117993173	HepG2	liver:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
43	CTCF	chr7:117993020-117993170	HVMF	connective:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
44	CTCF	chr7:117992971-117993188	A549	lung:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
45	CTCF	chr7:117993040-117993190	SK-N-SH_RA	brain:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
46	CTCF	chr7:117992986-117993207	H1-hESC	embryonic stem cell:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
47	CTCF	chr7:117993040-117993190	HA-sp	spinal cord:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
48	CTCF	chr7:117993020-117993170	SAEC	small airway:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
49	CTCF	chr7:117993040-117993190	HEEpiC	esophagus:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113
50	CTCF	chr7:117993039-117993135	GM13977	blood:	n/a	chr7:117993090-117993108 chr7:117993093-117993106 chr7:117993091-117993107 chr7:117993092-117993113

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:118004330-118004380	HL-60	blood:	n/a
2	chr7:118004330-118004380	CMK	blood:	n/a
3	chr7:118004330-118004380	GM12878	blood:	n/a
4	chr7:118004330-118004380	HRE	kidney:	n/a
5	chr7:118004330-118004380	HPAEpiC	pulmonary alveolar:	n/a
6	chr7:118004330-118004380	HIPEpiC	eye:	n/a
7	chr7:118004330-118004380	HCF	heart:	n/a
8	chr7:118004330-118004380	GM19239	blood:	n/a
9	chr7:118004330-118004380	GM12891	blood:	n/a
10	chr7:118004330-118004380	PANC-1	pancreas:	n/a
11	chr7:118004330-118004380	MCF10A-Er-Src	breast:	n/a
12	chr7:118004330-118004380	ECC-1	luminal epithelium:	n/a
13	chr7:118004330-118004380	SAEC	small airway:	n/a
14	chr7:118004330-118004380	HAEpiC	amniotic membrane:	n/a
15	chr7:118004330-118004380	HNPCEpiC	eye:	n/a
16	chr7:118004330-118004380	NH-A	brain:	n/a
17	chr7:118004330-118004380	HEEpiC	esophagus:	n/a
18	chr7:118004330-118004380	HRCEpiC	kidney:	n/a
19	chr7:118004330-118004380	LNCaP	prostate:	n/a
20	chr7:118004330-118004380	HepG2	liver:	n/a
21	chr7:118004330-118004380	MCF-7	breast:	n/a
22	chr7:118004330-118004380	T-47D	breast:	n/a
23	chr7:118004330-118004380	NHBE	bronchial:	n/a
24	chr7:118004330-118004380	U87	brain:	n/a
25	chr7:118004330-118004380	Jurkat	blood:	n/a
26	chr7:118004330-118004380	AG04449	skin:	fetal
27	chr7:118004330-118004380	AG09309	skin:	n/a
28	chr7:118004330-118004380	HCPEpiC	choroid plexus:	n/a
29	chr7:118004330-118004380	HRPEpiC	eye:	n/a
30	chr7:118004330-118004380	PFSK-1	brain:	n/a
31	chr7:118004330-118004380	Caco-2	colon:	n/a
32	chr7:118004330-118004380	HMEC	breast:	n/a
33	chr7:118004330-118004380	H1-hESC	embryonic stem cell:	embryo
34	chr7:118004330-118004380	PrEC	prostate:	n/a
35	chr7:118004330-118004380	ovcar-3	ovarian:	n/a
36	chr7:118004330-118004380	SKMC	muscle:	n/a
37	chr7:118004330-118004380	AG04450	lung:	fetal
38	chr7:118004330-118004380	BJ	skin:	n/a
39	chr7:118004330-118004380	GM12892	blood:	n/a
40	chr7:118004330-118004380	HCM	heart:	n/a
41	chr7:118004330-118004380	Hepatocyte	liver:	n/a
42	chr7:118004330-118004380	NT2-D1	testis:	n/a
43	chr7:118004330-118004380	A549	lung:	n/a
44	chr7:118004330-118004380	AG09319	gingival:	n/a
45	chr7:118004330-118004380	AoSMC	blood vessel:	n/a
46	chr7:118004330-118004380	IMR90	lung:	fetal
47	chr7:118004330-118004380	SK-N-MC	brain:	n/a
48	chr7:118004330-118004380	SK-N-SH	brain:	n/a
49	chr7:118004330-118004380	K562	blood:	n/a
50	chr7:118004330-118004380	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
2	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
3	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
4	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:
5	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:
6	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
7	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
8	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
9	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
10	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
11	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
12	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
13	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
14	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
15	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
16	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
17	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
18	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
19	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
20	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
21	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
22	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:
23	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
24	chr7:118093376..118094985-chr7:118098864..118100577,2	K562	blood:
25	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
26	chr7:118094852..118097400-chr7:118111770..118114661,2	K562	blood:
27	chr1:217680158..217680969-chr7:117992533..117993276,2	MCF-7	breast:
28	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
29	chr7:118140754..118143733-chr7:118144595..118146815,2	K562	blood:
30	chr7:118088557..118090123-chr7:118090834..118093671,2	K562	blood:
31	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
32	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
33	chr7:118055217..118057718-chr7:118101905..118103511,2	K562	blood:
34	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
35	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
36	chr7:118093376..118097334-chr7:118098069..118100577,4	K562	blood:
37	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
38	chr7:118134734..118137695-chr7:118137994..118140423,2	K562	blood:
39	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
40	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
41	chr7:118098838..118101158-chr7:118104567..118106399,2	K562	blood:
42	chr7:118103032..118104832-chr7:118107193..118108816,2	K562	blood:

Variant related genes	Relation type
ENSG00000222226	TF binding region
ENSG00000222226	CpG island
ENSG00000222226	chromatin interactions

Extended variants
information (count: 1500 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1500 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs42376	chr7:117981820-117981821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76781411	chr7:117981827-117981828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75050989	chr7:117981828-117981829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80254491	chr7:117981830-117981831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76603499	chr7:117981831-117981832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201737365	chr7:117981866-117981867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553858390	chr7:117981867-117981868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371274387	chr7:117981868-117981869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71150657	chr7:117981880-117981881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28433365	chr7:117981889-117981890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28578109	chr7:117981890-117981891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13236353	chr7:117981898-117981899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs28418975	chr7:117981899-117981900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28511272	chr7:117981905-117981906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28485343	chr7:117981906-117981907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143883589	chr7:117981914-117981915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71150658	chr7:117981933-117981934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61101958	chr7:117981939-117981940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538080928	chr7:117982031-117982032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574205767	chr7:117982045-117982046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111335918	chr7:117982076-117982077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574837231	chr7:117982114-117982115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200556741	chr7:117982146-117982147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201052484	chr7:117982170-117982171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541914497	chr7:117982183-117982184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199704487	chr7:117982194-117982195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200283453	chr7:117982230-117982231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553788202	chr7:117982233-117982234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs41971	chr7:117982390-117982391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs41972	chr7:117982407-117982408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572091881	chr7:117982430-117982431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545719248	chr7:117982495-117982496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564245068	chr7:117982606-117982607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531598919	chr7:117982611-117982612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543261993	chr7:117982668-117982669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561874660	chr7:117982669-117982670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529027530	chr7:117982731-117982732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547506437	chr7:117982781-117982782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs41973	chr7:117982791-117982792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62468227	chr7:117982851-117982852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532937648	chr7:117982865-117982866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551371328	chr7:117982887-117982888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571076969	chr7:117982888-117982889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538482033	chr7:117982894-117982895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556523142	chr7:117982909-117982910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6415352	chr7:117982983-117982984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6415353	chr7:117982999-117983000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6415354	chr7:117983003-117983004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6415355	chr7:117983025-117983026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6415356	chr7:117983073-117983074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117964400-117986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:117984200-117984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:117984600-117986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:117986800-117987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:117987000-117987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:117987200-117988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:117987800-117993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:117988000-117988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:117988200-117990000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:117989400-117992000	Enhancers	Dnd41	blood
16	chr7:117992000-117993200	Weak transcription	Dnd41	blood
17	chr7:117993200-117993400	Enhancers	Dnd41	blood
18	chr7:117993400-117994200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:117994400-117994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:118003600-118003800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:118003600-118004600	Enhancers	HepG2	liver
22	chr7:118003600-118004600	Active TSS	K562	blood
23	chr7:118003800-118004000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:118003800-118004200	Active TSS	A549	lung
25	chr7:118004000-118006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr7:118004600-118005600	Weak transcription	K562	blood
27	chr7:118005600-118006200	Active TSS	K562	blood
28	chr7:118006400-118007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:118008600-118009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:118011600-118013800	Enhancers	Dnd41	blood
31	chr7:118012400-118012800	Enhancers	Fetal Lung	lung
32	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells	blood
33	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:118012600-118013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:118012600-118013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:118018400-118018800	Enhancers	Fetal Stomach	stomach
38	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr7:118043000-118043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:118043000-118043200	Enhancers	Pancreas	Pancrea
46	chr7:118043000-118043200	Enhancers	Right Ventricle	heart
47	chr7:118072800-118073000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr7:118072800-118073000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr7:118072800-118073400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:118073000-118073400	Weak transcription	H1 Cell Line	embryonic stem cell

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