Variant report

Variant	nsv539054
Chromosome Location	chr7:108786402-109013227
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	chr7:108791252-108791262	K562	blood:	n/a	n/a
2	ATF2	chr7:108871620-108872037	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:108895203-108895218	K562	blood:	n/a	n/a
4	BACH1	chr7:108794812-108795142	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr7:108910412-108910678	HepG2	liver:	n/a	chr7:108910539-108910550
6	CEBPB	chr7:108870683-108870951	IMR90	lung:	n/a	chr7:108870795-108870806 chr7:108870795-108870808 chr7:108870795-108870808 chr7:108870797-108870806 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870795-108870808 chr7:108870797-108870806
7	CEBPB	chr7:108931312-108931584	HepG2	liver:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
8	CEBPB	chr7:108983843-108984061	A549	lung:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
9	CEBPB	chr7:108870685-108870955	K562	blood:	n/a	chr7:108870795-108870806 chr7:108870795-108870808 chr7:108870795-108870808 chr7:108870797-108870806 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870795-108870808 chr7:108870797-108870806
10	CEBPB	chr7:108813798-108814024	MCF-7	breast:	n/a	chr7:108813879-108813890
11	CEBPB	chr7:108910394-108910624	K562	blood:	n/a	chr7:108910539-108910550
12	CEBPB	chr7:108874096-108874294	A549	lung:	n/a	n/a
13	CEBPB	chr7:108870647-108870922	HepG2	liver:	n/a	chr7:108870795-108870806 chr7:108870795-108870808 chr7:108870795-108870808 chr7:108870797-108870806 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870795-108870808 chr7:108870797-108870806
14	CEBPB	chr7:108892778-108892882	HepG2	liver:	n/a	n/a
15	CEBPB	chr7:108819697-108819855	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:108931321-108931616	K562	blood:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
17	CEBPB	chr7:108910445-108910657	IMR90	lung:	n/a	chr7:108910539-108910550
18	CEBPB	chr7:108813805-108814010	A549	lung:	n/a	chr7:108813879-108813890
19	CEBPB	chr7:108910428-108910645	A549	lung:	n/a	chr7:108910539-108910550
20	CEBPB	chr7:108983779-108984138	Hela-S3	cervix:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
21	CEBPB	chr7:108983779-108984104	HepG2	liver:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
22	CEBPB	chr7:108879312-108879556	A549	lung:	n/a	chr7:108879422-108879433
23	CEBPB	chr7:108870692-108870981	A549	lung:	n/a	chr7:108870795-108870806 chr7:108870795-108870808 chr7:108870795-108870808 chr7:108870797-108870806 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870797-108870806 chr7:108870797-108870808 chr7:108870795-108870808 chr7:108870797-108870806
24	CEBPB	chr7:108931360-108931601	A549	lung:	n/a	chr7:108931471-108931480 chr7:108931471-108931480 chr7:108931469-108931480 chr7:108931471-108931480 chr7:108931469-108931482 chr7:108931471-108931480 chr7:108931471-108931482
25	CEBPB	chr7:108983855-108984082	MCF-7	breast:	n/a	chr7:108983955-108983968 chr7:108983956-108983967 chr7:108983955-108983968 chr7:108983955-108983966 chr7:108983955-108983966
26	CEBPB	chr7:108879342-108879561	IMR90	lung:	n/a	chr7:108879422-108879433
27	CEBPB	chr7:108911956-108912156	HepG2	liver:	n/a	chr7:108912038-108912049
28	CEBPB	chr7:108873792-108874278	HepG2	liver:	n/a	n/a
29	CEBPB	chr7:108892779-108892938	A549	lung:	n/a	chr7:108892880-108892891
30	CEBPB	chr7:108879270-108879566	HepG2	liver:	n/a	chr7:108879422-108879433
31	CEBPB	chr7:108813772-108814018	HepG2	liver:	n/a	chr7:108813879-108813890
32	CTCF	chr7:108843480-108843630	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:108846340-108846490	HepG2	liver:	n/a	n/a
34	CTCF	chr7:108963174-108963213	Medullo	brain:	n/a	n/a
35	CTCF	chr7:108797140-108797290	MCF-7	breast:	n/a	chr7:108797165-108797181
36	CTCF	chr7:108846460-108846610	SAEC	small airway:	n/a	n/a
37	CTCF	chr7:108985420-108985570	WERI-Rb-1	eye:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
38	CTCF	chr7:108985464-108985544	HepG2	liver:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
39	CTCF	chr7:108846360-108846510	GM12864	blood:	n/a	n/a
40	CTCF	chr7:108985470-108985516	LNCaP	prostate:	n/a	chr7:108985478-108985499 chr7:108985483-108985501
41	CTCF	chr7:108846340-108846490	HMEC	breast:	n/a	n/a
42	CTCF	chr7:108846440-108846590	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr7:108846380-108846530	GM12865	blood:	n/a	n/a
44	CTCF	chr7:108799460-108799610	GM12865	blood:	n/a	n/a
45	CTCF	chr7:108792564-108792641	K562	blood:	n/a	n/a
46	CTCF	chr7:108846320-108846470	GM06990	blood:	n/a	n/a
47	CTCF	chr7:108846400-108846550	GM12871	blood:	n/a	n/a
48	CTCF	chr7:108797100-108797250	HRPEpiC	eye:	n/a	chr7:108797165-108797181
49	CTCF	chr7:108846400-108846550	A549	lung:	n/a	n/a
50	CTCF	chr7:108846400-108846550	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108845010-108845060	AG10803	skin:	n/a
2	chr7:108845010-108845060	GM12892	blood:	n/a
3	chr7:108899319-108899369	AG04449	skin:	fetal
4	chr7:108845010-108845060	Hepatocyte	liver:	n/a
5	chr7:108899319-108899369	NT2-D1	testis:	n/a
6	chr7:108899319-108899369	Jurkat	blood:	n/a
7	chr7:108899319-108899369	AG04450	lung:	fetal
8	chr7:108899319-108899369	GM12891	blood:	n/a
9	chr7:108845010-108845060	H1-hESC	embryonic stem cell:	embryo
10	chr7:108899319-108899369	HAEpiC	amniotic membrane:	n/a
11	chr7:108899319-108899369	SAEC	small airway:	n/a
12	chr7:108845010-108845060	U87	brain:	n/a
13	chr7:108899319-108899369	ProgFib	skin:	n/a
14	chr7:108899319-108899369	SKMC	muscle:	n/a
15	chr7:108845010-108845060	K562	blood:	n/a
16	chr7:108845010-108845060	NH-A	brain:	n/a
17	chr7:108899319-108899369	HCPEpiC	choroid plexus:	n/a
18	chr7:108899319-108899369	ovcar-3	ovarian:	n/a
19	chr7:108845010-108845060	Hela-S3	cervix:	n/a
20	chr7:108845010-108845060	IMR90	lung:	fetal
21	chr7:108845010-108845060	LNCaP	prostate:	n/a
22	chr7:108845010-108845060	Jurkat	blood:	n/a
23	chr7:108899319-108899369	GM12892	blood:	n/a
24	chr7:108845010-108845060	Caco-2	colon:	n/a
25	chr7:108845010-108845060	GM12891	blood:	n/a
26	chr7:108899319-108899369	NH-A	brain:	n/a
27	chr7:108845010-108845060	HRCEpiC	kidney:	n/a
28	chr7:108899319-108899369	PANC-1	pancreas:	n/a
29	chr7:108899319-108899369	CMK	blood:	n/a
30	chr7:108899319-108899369	HRCEpiC	kidney:	n/a
31	chr7:108845010-108845060	HNPCEpiC	eye:	n/a
32	chr7:108845010-108845060	MCF10A-Er-Src	breast:	n/a
33	chr7:108899319-108899369	RPTEC	kidney:	n/a
34	chr7:108899319-108899369	Hela-S3	cervix:	n/a
35	chr7:108899319-108899369	HNPCEpiC	eye:	n/a
36	chr7:108845010-108845060	SK-N-MC	brain:	n/a
37	chr7:108845010-108845060	ovcar-3	ovarian:	n/a
38	chr7:108899319-108899369	LNCaP	prostate:	n/a
39	chr7:108845010-108845060	AG04450	lung:	fetal
40	chr7:108845010-108845060	HCM	heart:	n/a
41	chr7:108845010-108845060	GM19239	blood:	n/a
42	chr7:108899319-108899369	T-47D	breast:	n/a
43	chr7:108845010-108845060	ProgFib	skin:	n/a
44	chr7:108845010-108845060	PrEC	prostate:	n/a
45	chr7:108845010-108845060	T-47D	breast:	n/a
46	chr7:108845010-108845060	AG04449	skin:	fetal
47	chr7:108845010-108845060	HIPEpiC	eye:	n/a
48	chr7:108899319-108899369	HCT-116	colon:	n/a
49	chr7:108899319-108899369	HEEpiC	esophagus:	n/a
50	chr7:108899319-108899369	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
2	chr7:108926418..108928901-chr7:108931710..108934777,3	K562	blood:
3	chr7:108860832..108863154-chr7:108863395..108865934,2	K562	blood:
4	chr6:101816226..101817017-chr7:108978282..108979156,2	MCF-7	breast:
5	chr7:108835627..108837336-chr7:108841998..108844540,2	K562	blood:
6	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
7	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
8	chr7:108800063..108802230-chr7:108802806..108804951,2	K562	blood:
9	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:
10	chr6:125963245..125963978-chr7:108992120..108992898,2	MCF-7	breast:
11	chr15:85523640..85524561-chr7:108854830..108855472,2	MCF-7	breast:
12	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
13	chr7:108800063..108802230-chr7:108802806..108804951,2	K562	blood:
14	chr7:108829756..108831722-chr9:116036249..116037826,2	MCF-7	breast:
15	chr7:109007974..109010890-chr7:109012511..109014699,2	K562	blood:
16	chr7:108840265..108842020-chr7:108843538..108846052,2	K562	blood:
17	chr7:108864624..108866381-chr7:108866624..108869588,2	MCF-7	breast:
18	chr7:108972641..108975247-chr7:108976692..108978678,2	K562	blood:
19	chr7:108930299..108932601-chr7:108936912..108938938,2	K562	blood:
20	chr7:108864624..108866381-chr7:108866624..108869588,2	MCF-7	breast:
21	chr7:108840265..108842020-chr7:108843538..108846052,2	K562	blood:
22	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
23	chr7:108890203..108893066-chr7:108896329..108898326,2	K562	blood:
24	chr7:109003272..109005677-chr7:109013003..109015248,2	MCF-7	breast:
25	chr7:108860832..108863154-chr7:108863395..108865934,2	K562	blood:
26	chr7:108926418..108928901-chr7:108931710..108934777,3	K562	blood:
27	chr7:108900168..108902978-chr7:108903344..108906087,2	MCF-7	breast:
28	chr7:109004368..109006710-chr7:109007454..109009368,2	MCF-7	breast:
29	chr7:108835627..108837336-chr7:108841998..108844540,2	K562	blood:
30	chr7:108832801..108835363-chr7:108836904..108839577,2	K562	blood:
31	chr7:108832801..108835363-chr7:108836904..108839577,2	K562	blood:
32	chr7:108783473..108786187-chr7:108837145..108838988,2	K562	blood:
33	chr7:108987373..108988897-chr7:109004557..109006154,2	K562	blood:
34	chr7:108890203..108893066-chr7:108896329..108898326,2	K562	blood:
35	chr7:108930299..108932601-chr7:108936912..108938938,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf66-1	chr7:108962377-108962670	XLOC_006559
2	lnc-C7orf66-1	chr7:108966269-108966372	XLOC_006559

Variant related genes	Relation type
ENSG00000230941	TF binding region
ENSG00000230941	CpG island
ENSG00000136875	chromatin interactions
ENSG00000073417	chromatin interactions
PLAG1	miRNA target sites

Extended variants
information (count: 1836 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1836 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114508898	chr7:108797820-108797821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572831650	chr7:108797827-108797828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57512876	chr7:108797854-108797855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545688083	chr7:108797914-108797915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561660975	chr7:108797933-108797934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77449796	chr7:108797981-108797982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544228667	chr7:108798002-108798003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117698966	chr7:108798032-108798033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373900889	chr7:108798055-108798056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184623487	chr7:108798065-108798066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566686423	chr7:108798066-108798067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528560849	chr7:108798076-108798077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58352249	chr7:108798105-108798106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549885562	chr7:108798110-108798111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56704317	chr7:108798149-108798150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375905532	chr7:108798167-108798168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115508369	chr7:108798232-108798233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550968748	chr7:108798256-108798257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571041459	chr7:108798305-108798306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540157009	chr7:108798330-108798331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145910615	chr7:108798355-108798356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60043058	chr7:108798381-108798382	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536067965	chr7:108798430-108798431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138478464	chr7:108798456-108798457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117006455	chr7:108798459-108798460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1525036	chr7:108798498-108798499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs76496640	chr7:108798512-108798513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1525035	chr7:108798551-108798552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs375295944	chr7:108798553-108798554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577837768	chr7:108798592-108798593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568620805	chr7:108798599-108798600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186958115	chr7:108798608-108798609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567188115	chr7:108798649-108798650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534363831	chr7:108798661-108798662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13227281	chr7:108798708-108798709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76245395	chr7:108798709-108798710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28676334	chr7:108798722-108798723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs569319975	chr7:108798743-108798744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548788466	chr7:108798746-108798747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561813464	chr7:108798772-108798773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141860774	chr7:108798788-108798789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530946059	chr7:108798800-108798801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73426596	chr7:108798811-108798812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570874704	chr7:108798830-108798831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539737736	chr7:108798834-108798835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10231177	chr7:108798860-108798861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567171764	chr7:108798906-108798907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571073468	chr7:108798915-108798916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76583430	chr7:108798921-108798922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117834575	chr7:108798951-108798952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute myeloid leukemia	16864856	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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108797800-108798200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:108797800-108798400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:108798200-108802200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:108798400-108800600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:108800600-108803800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:108802200-108804200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:108802400-108803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:108802800-108803600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:108803000-108803200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:108805800-108806200	Enhancers	Fetal Brain Male	brain
11	chr7:108811600-108812200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:108818200-108818600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:108850800-108853200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:108852800-108853200	Enhancers	Fetal Muscle Leg	muscle
15	chr7:108852800-108853800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:108853600-108853800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:108854200-108855200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:108855200-108855800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:108855800-108856200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:108864200-108864600	Enhancers	Dnd41	blood
21	chr7:108864200-108864800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:108864600-108865200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:108869800-108870200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:108869800-108870200	Enhancers	Liver	Liver
25	chr7:108870800-108871000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:108871200-108871400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:108871400-108872000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr7:108871400-108872000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:108871800-108872200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:108871800-108873000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:108872000-108872400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:108872000-108872800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:108872000-108873000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:108872200-108873000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr7:108872600-108873000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:108886200-108886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:108886200-108887400	Enhancers	NHEK	skin
38	chr7:108886400-108886800	Enhancers	Fetal Muscle Leg	muscle
39	chr7:108886400-108887000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:108886400-108887200	Enhancers	Hela-S3	cervix
41	chr7:108886400-108887200	Enhancers	NH-A	brain
42	chr7:108886400-108887400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:108886400-108887400	Enhancers	HMEC	breast
44	chr7:108886400-108887800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:108886400-108888200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:108886600-108887000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:108886600-108887000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:108886800-108887400	Enhancers	Gastric	stomach
49	chr7:108887000-108887200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:108887000-108887400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links