Variant report

Variant	nsv464659
Chromosome Location	chr7:100968363-101127455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2146)
CpG islands
(count:1587)
Chromatin interactive
region (count:78)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2146 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:101029701-101030402	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:101041212-101041406	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:100995557-100996013	K562	blood:	n/a	n/a
4	ARID3A	chr7:101054542-101054748	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:100995510-100995986	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:101034275-101034431	HepG2	liver:	n/a	n/a
7	ATF1	chr7:100995667-100996035	K562	blood:	n/a	n/a
8	ATF2	chr7:101007153-101007579	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr7:101054507-101054909	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:101034206-101034498	GM12878	blood:	n/a	n/a
11	ATF2	chr7:101045113-101045819	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr7:101045260-101045884	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:101005691-101006042	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:101034154-101034562	GM12878	blood:	n/a	n/a
15	ATF3	chr7:101083791-101083930	K562	blood:	n/a	n/a
16	ATF3	chr7:100995608-100996147	K562	blood:	n/a	n/a
17	BACH1	chr7:101045151-101045712	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr7:101083766-101083964	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr7:101054392-101054843	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr7:101006064-101006399	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:101042008-101042270	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:100978932-100978958	K562	blood:	n/a	n/a
23	BACH1	chr7:101080560-101080609	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr7:101006969-101007517	H1-hESC	embryonic stem cell:	n/a	n/a
25	BCL11A	chr7:101045447-101045692	H1-hESC	embryonic stem cell:	n/a	chr7:101045565-101045572 chr7:101045573-101045582
26	BCL11A	chr7:101034127-101034558	GM12878	blood:	n/a	n/a
27	BCL3	chr7:101006990-101007617	A549	lung:	n/a	chr7:101007240-101007249 chr7:101007424-101007437
28	BCL3	chr7:101045065-101045790	A549	lung:	n/a	chr7:101045565-101045572 chr7:101045573-101045582 chr7:101045420-101045433
29	BCL3	chr7:101071768-101072139	GM12878	blood:	n/a	n/a
30	BCL3	chr7:101071831-101072136	GM12878	blood:	n/a	n/a
31	BCL3	chr7:101045252-101045835	A549	lung:	n/a	chr7:101045565-101045572 chr7:101045573-101045582 chr7:101045420-101045433
32	BCL3	chr7:101085919-101086314	GM12878	blood:	n/a	n/a
33	BCL3	chr7:101085899-101086361	GM12878	blood:	n/a	n/a
34	BCL3	chr7:100995424-100996093	A549	lung:	n/a	chr7:100995867-100995874
35	BCL3	chr7:100995430-100996053	A549	lung:	n/a	chr7:100995867-100995874
36	BCL3	chr7:101034235-101034520	GM12878	blood:	n/a	n/a
37	BHLHE40	chr7:101007069-101007443	K562	blood:	n/a	n/a
38	BHLHE40	chr7:100995649-100996149	K562	blood:	n/a	n/a
39	BHLHE40	chr7:101085990-101086330	K562	blood:	n/a	n/a
40	BHLHE40	chr7:100995806-100995888	HepG2	liver:	n/a	n/a
41	BHLHE40	chr7:101083725-101083894	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:101007335-101007606	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:101054571-101054732	K562	blood:	n/a	n/a
44	BHLHE40	chr7:101006937-101007505	HepG2	liver:	n/a	n/a
45	BHLHE40	chr7:101034158-101034493	GM12878	blood:	n/a	n/a
46	BRCA1	chr7:101034269-101034281	HepG2	liver:	n/a	n/a
47	BRCA1	chr7:100996299-100996395	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr7:101034222-101034342	GM12878	blood:	n/a	n/a
49	BRCA1	chr7:101030201-101030430	HepG2	liver:	n/a	n/a
50	CBX3	chr7:101053258-101053574	K562	blood:	n/a	n/a

(count:1587 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:101005910-101005960	NHBE	bronchial:	n/a
2	chr7:101005910-101005960	NHBE	bronchial:	n/a
3	chr7:101006035-101006085	LNCaP	prostate:	n/a
4	chr7:101007072-101007122	SK-N-MC	brain:	n/a
5	chr7:101006089-101006139	HCPEpiC	choroid plexus:	n/a
6	chr7:101005832-101005882	AoSMC	blood vessel:	n/a
7	chr7:101005910-101005960	ECC-1	luminal epithelium:	n/a
8	chr7:101006573-101006623	LNCaP	prostate:	n/a
9	chr7:101006089-101006139	HEK293	kidney:	embryo
10	chr7:101006573-101006623	NB4	blood:	n/a
11	chr7:101006089-101006139	K562	blood:	n/a
12	chr7:101017354-101017404	GM12891	blood:	n/a
13	chr7:101007072-101007122	HAEpiC	amniotic membrane:	n/a
14	chr7:101079617-101079667	SK-N-SH_RA	brain:	n/a
15	chr7:101006019-101006069	AG09319	gingival:	n/a
16	chr7:101006089-101006139	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:101006363-101006413	AG10803	skin:	n/a
18	chr7:101006052-101006102	Hela-S3	cervix:	n/a
19	chr7:100968383-100968433	AG09309	skin:	n/a
20	chr7:101006363-101006413	NHBE	bronchial:	n/a
21	chr7:101049372-101049422	H1-hESC	embryonic stem cell:	embryo
22	chr7:101006573-101006623	HCF	heart:	n/a
23	chr7:101079617-101079667	AG04450	lung:	fetal
24	chr7:101006058-101006108	PFSK-1	brain:	n/a
25	chr7:101063331-101063381	AG09319	gingival:	n/a
26	chr7:100968383-100968433	HL-60	blood:	n/a
27	chr7:101006058-101006108	HCT-116	colon:	n/a
28	chr7:101007072-101007122	SAEC	small airway:	n/a
29	chr7:101007442-101007492	HCPEpiC	choroid plexus:	n/a
30	chr7:101007603-101007653	HIPEpiC	eye:	n/a
31	chr7:101006063-101006113	PrEC	prostate:	n/a
32	chr7:101006363-101006413	HIPEpiC	eye:	n/a
33	chr7:101049372-101049422	PrEC	prostate:	n/a
34	chr7:100968383-100968433	MCF-7	breast:	n/a
35	chr7:101055912-101055962	GM06990	blood:	n/a
36	chr7:101006363-101006413	Hepatocyte	liver:	n/a
37	chr7:101006573-101006623	GM19239	blood:	n/a
38	chr7:101006019-101006069	K562	blood:	n/a
39	chr7:101006573-101006623	HAEpiC	amniotic membrane:	n/a
40	chr7:100993034-100993084	HAEpiC	amniotic membrane:	n/a
41	chr7:101007603-101007653	HCF	heart:	n/a
42	chr7:101007442-101007492	PANC-1	pancreas:	n/a
43	chr7:101006573-101006623	GM12878	blood:	n/a
44	chr7:101006308-101006358	PANC-1	pancreas:	n/a
45	chr7:101007190-101007240	SAEC	small airway:	n/a
46	chr7:101005846-101005896	HRCEpiC	kidney:	n/a
47	chr7:101006058-101006108	HCPEpiC	choroid plexus:	n/a
48	chr7:101049372-101049422	ovcar-3	ovarian:	n/a
49	chr7:101005910-101005960	Hepatocyte	liver:	n/a
50	chr7:101055912-101055962	Caco-2	colon:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:101112161..101112969-chr7:101150803..101151689,2	MCF-7	breast:
2	chr7:101006932..101008338-chr7:101181516..101182765,6	K562	blood:
3	chr7:101006530..101007875-chr7:101054200..101055148,9	MCF-7	breast:
4	chr7:101032377..101034733-chr7:101037402..101040388,2	MCF-7	breast:
5	chr7:101023195..101026718-chr7:101028403..101030293,3	K562	blood:
6	chr7:101006939..101007476-chr7:101083770..101084337,2	K562	blood:
7	chr7:101041365..101043542-chr7:101048323..101050814,2	MCF-7	breast:
8	chr7:100967257..100969650-chr7:100972376..100975221,2	K562	blood:
9	chr7:101006966..101007850-chr7:101054283..101055103,3	MCF-7	breast:
10	chr7:101022613..101024114-chr7:101025793..101027679,2	MCF-7	breast:
11	chr7:101115888..101118705-chr7:101119430..101120969,2	MCF-7	breast:
12	chr7:100989055..100991707-chr7:100994198..100995736,2	MCF-7	breast:
13	chr7:101039985..101042024-chr7:101043789..101046579,2	MCF-7	breast:
14	chr7:101006838..101009123-chr7:101009732..101012047,2	K562	blood:
15	chr7:101031371..101033701-chr7:101034998..101036873,2	K562	blood:
16	chr7:100989055..100991707-chr7:100994198..100995736,2	MCF-7	breast:
17	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
18	chr7:101007762..101011060-chr7:101013667..101017793,3	K562	blood:
19	chr7:101012941..101015108-chr7:101017148..101018749,2	K562	blood:
20	chr7:101022613..101024114-chr7:101025793..101027679,2	MCF-7	breast:
21	chr7:101006966..101007850-chr7:101054283..101055103,3	MCF-7	breast:
22	chr7:101067571..101069515-chr7:101079650..101082212,2	MCF-7	breast:
23	chr7:101005587..101007184-chr7:101013675..101015580,2	MCF-7	breast:
24	chr7:101041365..101043542-chr7:101048323..101050814,2	MCF-7	breast:
25	chr7:101015968..101018340-chr7:101024306..101026455,2	MCF-7	breast:
26	chr7:101083863..101087245-chr7:101089520..101092470,3	K562	blood:
27	chr7:101006510..101007838-chr7:101150604..101151700,15	MCF-7	breast:
28	chr12:132413848..132415692-chr7:101084473..101086964,2	MCF-7	breast:
29	chr7:101110378..101112867-chr7:101115903..101117438,2	K562	blood:
30	chr7:101006811..101007905-chr7:101150693..101151800,11	K562	blood:
31	chr7:101012360..101015108-chr7:101017249..101019175,2	K562	blood:
32	chr7:101084569..101086934-chr7:101141583..101143364,2	MCF-7	breast:
33	chr7:101037193..101039012-chr7:101045881..101047459,2	MCF-7	breast:
34	chr7:101023195..101026718-chr7:101028403..101030293,3	K562	blood:
35	chr7:101012941..101015108-chr7:101017148..101018749,2	K562	blood:
36	chr7:100964942..100967208-chr7:101081876..101083958,2	MCF-7	breast:
37	chr7:100964752..100967137-chr7:100978107..100980737,2	MCF-7	breast:
38	chr7:101068095..101068916-chr7:101150848..101151469,2	MCF-7	breast:
39	chr7:101006995..101008302-chr7:101082934..101084354,6	MCF-7	breast:
40	chr7:101054544..101055233-chr7:101150595..101151343,2	K562	blood:
41	chr7:100967257..100969650-chr7:100972376..100975221,2	K562	blood:
42	chr7:101006838..101009123-chr7:101009732..101012047,2	K562	blood:
43	chr7:100949900..100952097-chr7:100994165..100995851,2	MCF-7	breast:
44	chr7:101006995..101008302-chr7:101082934..101084354,6	MCF-7	breast:
45	chr7:101006908..101008057-chr7:101150804..101151679,7	MCF-7	breast:
46	chr7:101100597..101102046-chr7:101150673..101151702,7	MCF-7	breast:
47	chr7:101023195..101025977-chr7:101028738..101030293,2	K562	blood:
48	chr7:101083863..101087245-chr7:101089520..101092470,3	K562	blood:
49	chr7:101006746..101007872-chr7:101054217..101055171,4	K562	blood:
50	chr7:101032377..101034733-chr7:101037402..101040388,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABL5-1	chr7:100998850-100999006	ucscGeneNc_uc003uyp_2
2	lnc-RABL5-2	chr7:101032149-101032361	NONHSAT122467
3	lnc-RABL5-1	chr7:100995310-100996633	ucscGeneNc_uc003uyp_2

No data

Variant related genes	Relation type
RABL5	TF binding region
ENSG00000233683	TF binding region
COL26A1	TF binding region
RABL5	CpG island
ENSG00000233683	CpG island
COL26A1	CpG island
ENSG00000233683	chromatin interactions
ENSG00000255992	chromatin interactions
ENSG00000232445	chromatin interactions
ENSG00000160963	chromatin interactions
ENSG00000128581	chromatin interactions
ENSG00000177192	chromatin interactions

Extended variants
information (count: 6930 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6930 , 50 per page) page: 1 2 3 4 5 6 7 ... 139

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7799285	chr7:100968363-100968364	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560135184	chr7:100968384-100968385	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148843392	chr7:100968424-100968425	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569452549	chr7:100968449-100968450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115101288	chr7:100968501-100968502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566803688	chr7:100968508-100968509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568087609	chr7:100968513-100968514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13236755	chr7:100968533-100968534	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs550597739	chr7:100968571-100968572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531152841	chr7:100968585-100968586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569314835	chr7:100968586-100968587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397943774	chr7:100968598-100968599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199866930	chr7:100968599-100968600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34404167	chr7:100968624-100968625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72196566	chr7:100968626-100968627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367773710	chr7:100968685-100968686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190040705	chr7:100968726-100968727	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566959334	chr7:100968788-100968789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372158494	chr7:100968792-100968793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143506886	chr7:100968878-100968879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114749279	chr7:100968898-100968899	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544210291	chr7:100968899-100968900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs556222726	chr7:100968916-100968917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs193184770	chr7:100968917-100968918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs36060097	chr7:100968924-100968925	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs530941059	chr7:100968928-100968929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527516471	chr7:100968988-100968989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs369562061	chr7:100968989-100968990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542479830	chr7:100969002-100969003	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs13225720	chr7:100969097-100969098	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs185165021	chr7:100969159-100969160	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374902029	chr7:100969204-100969205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535395352	chr7:100969218-100969219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539333163	chr7:100969222-100969223	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs550560890	chr7:100969234-100969235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs199889288	chr7:100969235-100969236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs202226907	chr7:100969238-100969239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13225652	chr7:100969244-100969245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566576345	chr7:100969258-100969259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs80282652	chr7:100969271-100969272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369326490	chr7:100969322-100969323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190809659	chr7:100969325-100969326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs181760194	chr7:100969330-100969331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535158484	chr7:100969355-100969356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567023668	chr7:100969366-100969367	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs67502950	chr7:100969386-100969387	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs542321626	chr7:100969392-100969393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183633476	chr7:100969414-100969415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542180883	chr7:100969418-100969419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs368023477	chr7:100969419-100969420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100965800-100973200	Weak transcription	Right Atrium	heart
2	chr7:100966200-100969800	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:100967600-100969000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100969000-100969200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:100969200-100969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:100970000-100970200	Enhancers	Fetal Muscle Leg	muscle
7	chr7:100973200-100973600	Enhancers	Right Atrium	heart
8	chr7:100973400-100973600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:100973400-100973600	Bivalent Enhancer	Adipose Nuclei	Adipose
10	chr7:100973400-100973600	Flanking Active TSS	Lung	lung
11	chr7:100973400-100973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:100973400-100973800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:100973400-100973800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:100973400-100973800	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:100973400-100973800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr7:100973400-100974000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:100973600-100973800	Enhancers	NHEK	skin
18	chr7:100973600-100980600	Weak transcription	Right Atrium	heart
19	chr7:100973800-100975400	Weak transcription	Lung	lung
20	chr7:100973800-100976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:100973800-100976200	Weak transcription	NHEK	skin
22	chr7:100973800-100977400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:100974000-100976000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:100975600-100976400	Enhancers	HepG2	liver
25	chr7:100976000-100976400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:100976000-100976600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:100976000-100976800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:100976200-100976600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:100976200-100976600	Enhancers	Fetal Kidney	kidney
30	chr7:100976200-100976800	Enhancers	NHEK	skin
31	chr7:100976400-100977400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:100977400-100977600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:100977400-100978200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:100982400-100983800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:100983800-100984000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:100984000-100990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:100990800-100991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:100990800-100991400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:100991000-101006000	Weak transcription	Right Atrium	heart
40	chr7:100991200-100991400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:100991400-100992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:100991400-100993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:100992800-100993000	Enhancers	Stomach Mucosa	stomach
44	chr7:100992800-100993200	Enhancers	K562	blood
45	chr7:100992800-100993400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:100992800-100993400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr7:100993000-100993200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:100993000-100994000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:100993200-100993400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:100993200-100993400	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links