Variant report

Variant	nsv1057217
Chromosome Location	chr19:52283498-52617132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5621)
CpG islands
(count:7516)
Chromatin interactive
region (count:253)
LncRNA
region (count:102)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5621 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52407414-52407541	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:52288166-52289145	K562	blood:	n/a	n/a
3	ARID3A	chr19:52603068-52603334	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:52313557-52313692	K562	blood:	n/a	n/a
5	ARID3A	chr19:52310240-52311002	K562	blood:	n/a	n/a
6	ARID3A	chr19:52489958-52490423	HepG2	liver:	n/a	n/a
7	ARID3A	chr19:52531625-52531875	K562	blood:	n/a	n/a
8	ARID3A	chr19:52299117-52300997	K562	blood:	n/a	n/a
9	ARID3A	chr19:52511381-52511632	HepG2	liver:	n/a	n/a
10	ARID3A	chr19:52307809-52308459	K562	blood:	n/a	n/a
11	ARID3A	chr19:52286712-52286989	K562	blood:	n/a	n/a
12	ARID3A	chr19:52311894-52312194	K562	blood:	n/a	n/a
13	ARID3A	chr19:52306606-52307609	K562	blood:	n/a	n/a
14	ARID3A	chr19:52313645-52313812	HepG2	liver:	n/a	n/a
15	ARID3A	chr19:52551838-52552062	K562	blood:	n/a	n/a
16	ARID3A	chr19:52598763-52599031	HepG2	liver:	n/a	n/a
17	ARID3A	chr19:52531399-52531960	HepG2	liver:	n/a	n/a
18	ARID3A	chr19:52298176-52298372	K562	blood:	n/a	n/a
19	ARID3A	chr19:52308170-52308456	HepG2	liver:	n/a	n/a
20	ARID3A	chr19:52407793-52408814	HepG2	liver:	n/a	n/a
21	ARID3A	chr19:52555017-52555116	HepG2	liver:	n/a	n/a
22	ARID3A	chr19:52552024-52552805	HepG2	liver:	n/a	n/a
23	ARID3A	chr19:52303443-52304384	K562	blood:	n/a	n/a
24	ARID3A	chr19:52302554-52302890	K562	blood:	n/a	n/a
25	ARID3A	chr19:52408187-52408572	K562	blood:	n/a	n/a
26	ARID3A	chr19:52333617-52333822	K562	blood:	n/a	n/a
27	ATF1	chr19:52308082-52308473	K562	blood:	n/a	n/a
28	ATF1	chr19:52303528-52304254	K562	blood:	n/a	n/a
29	ATF1	chr19:52290370-52290609	K562	blood:	n/a	n/a
30	ATF1	chr19:52286699-52286989	K562	blood:	n/a	n/a
31	ATF1	chr19:52288144-52288776	K562	blood:	n/a	n/a
32	ATF1	chr19:52594171-52594249	K562	blood:	n/a	n/a
33	ATF1	chr19:52325702-52325884	K562	blood:	n/a	n/a
34	ATF1	chr19:52302531-52302910	K562	blood:	n/a	n/a
35	ATF1	chr19:52310327-52310825	K562	blood:	n/a	n/a
36	ATF1	chr19:52313567-52313801	K562	blood:	n/a	n/a
37	ATF1	chr19:52551777-52552810	K562	blood:	n/a	n/a
38	ATF1	chr19:52299358-52299816	K562	blood:	n/a	n/a
39	ATF1	chr19:52531294-52532287	K562	blood:	n/a	n/a
40	ATF1	chr19:52480697-52480890	K562	blood:	n/a	n/a
41	ATF1	chr19:52463795-52464169	K562	blood:	n/a	n/a
42	ATF1	chr19:52430091-52430806	K562	blood:	n/a	n/a
43	ATF2	chr19:52551876-52552336	GM12878	blood:	n/a	n/a
44	ATF2	chr19:52531260-52531946	GM12878	blood:	n/a	n/a
45	ATF2	chr19:52430063-52430883	GM12878	blood:	n/a	n/a
46	ATF2	chr19:52394261-52394851	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr19:52390724-52391648	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF2	chr19:52531375-52531869	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr19:52531615-52532011	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr19:52489820-52490382	GM12878	blood:	n/a	n/a

(count:7516 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52327441-52327491	HCM	heart:	n/a
2	chr19:52489783-52489833	HPAEpiC	pulmonary alveolar:	n/a
3	chr19:52552126-52552176	SK-N-SH	brain:	n/a
4	chr19:52391304-52391354	HCT-116	colon:	n/a
5	chr19:52507354-52507404	RPTEC	kidney:	n/a
6	chr19:52391605-52391655	HCT-116	colon:	n/a
7	chr19:52490101-52490151	NHBE	bronchial:	n/a
8	chr19:52490173-52490223	MCF10A-Er-Src	breast:	n/a
9	chr19:52531777-52531827	PANC-1	pancreas:	n/a
10	chr19:52529860-52529910	SKMC	muscle:	n/a
11	chr19:52495464-52495514	SK-N-SH_RA	brain:	n/a
12	chr19:52452094-52452144	SAEC	small airway:	n/a
13	chr19:52430492-52430542	HL-60	blood:	n/a
14	chr19:52327441-52327491	HCM	heart:	n/a
15	chr19:52489783-52489833	HPAEpiC	pulmonary alveolar:	n/a
16	chr19:52552126-52552176	SK-N-SH	brain:	n/a
17	chr19:52391304-52391354	HCT-116	colon:	n/a
18	chr19:52507354-52507404	RPTEC	kidney:	n/a
19	chr19:52391605-52391655	HCT-116	colon:	n/a
20	chr19:52490101-52490151	NHBE	bronchial:	n/a
21	chr19:52490173-52490223	MCF10A-Er-Src	breast:	n/a
22	chr19:52531777-52531827	PANC-1	pancreas:	n/a
23	chr19:52529860-52529910	SKMC	muscle:	n/a
24	chr19:52495464-52495514	SK-N-SH_RA	brain:	n/a
25	chr19:52452094-52452144	SAEC	small airway:	n/a
26	chr19:52430492-52430542	HL-60	blood:	n/a
27	chr19:52456033-52456083	A549	lung:	n/a
28	chr19:52452094-52452144	HUVEC	blood vessel:	n/a
29	chr19:52391250-52391300	AoSMC	blood vessel:	n/a
30	chr19:52490120-52490170	HCM	heart:	n/a
31	chr19:52511510-52511560	RPTEC	kidney:	n/a
32	chr19:52452317-52452367	AG04449	skin:	fetal
33	chr19:52408350-52408400	AG10803	skin:	n/a
34	chr19:52511571-52511621	HUVEC	blood vessel:	n/a
35	chr19:52391411-52391461	PANC-1	pancreas:	n/a
36	chr19:52430378-52430428	MCF-7	breast:	n/a
37	chr19:52391078-52391128	ovcar-3	ovarian:	n/a
38	chr19:52531952-52532002	NHBE	bronchial:	n/a
39	chr19:52430630-52430680	NB4	blood:	n/a
40	chr19:52552443-52552493	AG10803	skin:	n/a
41	chr19:52395190-52395240	HCPEpiC	choroid plexus:	n/a
42	chr19:52514445-52514495	LNCaP	prostate:	n/a
43	chr19:52452094-52452144	HEK293	kidney:	embryo
44	chr19:52511504-52511554	AG10803	skin:	n/a
45	chr19:52297519-52297569	Hepatocyte	liver:	n/a
46	chr19:52448902-52448952	Jurkat	blood:	n/a
47	chr19:52393606-52393656	HAEpiC	amniotic membrane:	n/a
48	chr19:52531438-52531488	NHDF-neo	bronchial:	n/a
49	chr19:52452094-52452144	SK-N-MC	brain:	n/a
50	chr19:52598983-52599033	NHDF-neo	bronchial:	n/a

(count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr19:52530218..52533559-chr19:52550553..52554398,9	K562	blood:
2	chr19:52522708..52525154-chr19:52535307..52537297,2	MCF-7	breast:
3	chr19:52405347..52407239-chr19:52596697..52599121,2	K562	blood:
4	chr19:52484541..52487648-chr19:52488743..52491418,3	MCF-7	breast:
5	chr19:52216085..52216905-chr19:52311568..52312097,3	MCF-7	breast:
6	chr19:52529836..52533944-chr19:52534588..52538987,9	K562	blood:
7	chr19:52277252..52280164-chr19:52282818..52285281,2	K562	blood:
8	chr19:52484947..52487239-chr19:52487378..52490220,3	K562	blood:
9	chr19:52397856..52399876-chr19:52550582..52552472,2	K562	blood:
10	chr19:52543896..52546052-chr19:52546665..52549791,3	K562	blood:
11	chr17:41464206..41466137-chr19:52468139..52469658,2	MCF-7	breast:
12	chr19:52406779..52409160-chr19:52420026..52422872,2	K562	blood:
13	chr19:52588475..52590807-chr19:52591326..52593496,3	K562	blood:
14	chr19:52327504..52330084-chr19:52332158..52334716,2	K562	blood:
15	chr19:52599336..52601507-chr19:52614635..52617112,2	MCF-7	breast:
16	chr19:52499367..52502789-chr19:52503476..52507276,3	K562	blood:
17	chr19:52551202..52553746-chr19:52596231..52599092,3	K562	blood:
18	chr19:52577623..52579187-chr19:52581297..52583798,2	K562	blood:
19	chr19:52590181..52592950-chr19:52598268..52601252,2	MCF-7	breast:
20	chr19:52299823..52301344-chr19:52301707..52303402,2	K562	blood:
21	chr19:52287685..52291319-chr19:52309738..52312774,4	MCF-7	breast:
22	chr19:52226072..52228761-chr19:52312561..52315584,3	MCF-7	breast:
23	chr19:52599336..52601507-chr19:52614635..52617112,2	MCF-7	breast:
24	chr19:52530082..52531869-chr19:52549630..52551940,2	MCF-7	breast:
25	chr19:52551479..52554501-chr19:52561457..52565135,4	K562	blood:
26	chr19:52357027..52358748-chr19:52365567..52367479,2	K562	blood:
27	chr19:52495447..52499053-chr19:52500627..52503921,5	K562	blood:
28	chr19:52286503..52287282-chr19:52313444..52314004,2	MCF-7	breast:
29	chr19:52505792..52508721-chr19:52508745..52510536,2	K562	blood:
30	chr19:52383956..52386639-chr19:52386730..52388242,2	K562	blood:
31	chr10:70883640..70884566-chr19:52429893..52430585,2	HCT-116	colon:
32	chr19:52164333..52164883-chr19:52286275..52287235,2	K562	blood:
33	chr19:52325388..52327096-chr19:52332762..52335331,2	K562	blood:
34	chr1:147806539..147807198-chr19:52551536..52552465,2	Hela-S3	cervix:
35	chr19:52530143..52532908-chr19:52641672..52644028,3	K562	blood:
36	chr17:41463656..41466304-chr19:52468139..52469659,2	K562	blood:
37	chr19:52191055..52194888-chr19:52301421..52305190,4	MCF-7	breast:
38	chr19:52350825..52353378-chr19:52353698..52357895,4	K562	blood:
39	chr19:52211595..52213921-chr19:52286963..52288731,2	MCF-7	breast:
40	chr19:52388375..52390016-chr19:52406809..52409493,2	K562	blood:
41	chr19:52510456..52516006-chr19:52524444..52533479,8	K562	blood:
42	chr17:41380112..41381892-chr19:52468139..52469639,2	MCF-7	breast:
43	chr19:52539717..52542637-chr19:52551136..52553234,2	K562	blood:
44	chr19:52516083..52518649-chr19:52545291..52547420,2	K562	blood:
45	chr19:52543896..52546052-chr19:52546665..52549791,3	K562	blood:
46	chr19:52598726..52600984-chr19:52691577..52693709,2	MCF-7	breast:
47	chr19:52317917..52321992-chr19:52406046..52408700,3	K562	blood:
48	chr19:52588475..52590807-chr19:52591326..52593496,3	K562	blood:
49	chr19:52421901..52424826-chr19:52448937..52450771,2	K562	blood:
50	chr19:52276673..52280164-chr19:52282818..52285281,3	K562	blood:

(count:102 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF649-3	chr19:52380535-52380630	NR_024181
2	lnc-ZNF613-1	chr19:52474349-52474419	NONHSAT067499
3	lnc-ZNF616-1	chr19:52613571-52613979	NONHSAT067514
4	lnc-ZNF649-3	chr19:52381642-52381768	NR_024181
5	lnc-ZNF841-2	chr19:52598828-52598991	NONHSAT067511
6	lnc-ZNF613-1	chr19:52452415-52452488	NONHSAT067499
7	lnc-ZNF614-1	chr19:52507102-52507153	NONHSAT067507
8	lnc-ZNF649-3	chr19:52364157-52364231	NONHSAT067486
9	lnc-ZNF613-4	chr19:52403376-52403716	ENSG00000268095.1
10	lnc-ZNF615-1	chr19:52490023-52490058	NONHSAT067502
11	lnc-ZNF614-1	chr19:52510546-52510583	NONHSAT067507
12	lnc-ZNF613-1	chr19:52484180-52484620	NR_103847
13	lnc-ZNF613-1	chr19:52484180-52484613	ENSG00000246125
14	lnc-ZNF614-1	chr19:52510546-52510583	NONHSAT067506
15	lnc-ZNF613-1	chr19:52479644-52480118	ENSG00000269235.1
16	lnc-ZNF432-1	chr19:52579297-52579642	NONHSAT067513
17	lnc-ZNF577-2	chr19:52346442-52346577	ENSG00000269483.1
18	lnc-ZNF649-3	chr19:52383932-52384130	NR_024181
19	lnc-ZNF577-2	chr19:52343024-52343132	ENSG00000268316.1
20	lnc-ZNF577-1	chr19:52399363-52399820	NONHSAT067493
21	lnc-ZNF649-3	chr19:52391085-52391189	NR_024181
22	lnc-ZNF649-3	chr19:52383576-52383654	NR_024181
23	lnc-ZNF577-2	chr19:52346074-52346166	ENSG00000269483.1
24	lnc-ZNF613-1	chr19:52452390-52452488	NONHSAT067498
25	lnc-ZNF841-1	chr19:52566900-52566956	ENSG00000249246
26	lnc-ZNF649-3	chr19:52359063-52359220	NONHSAT067488
27	lnc-ZNF841-2	chr19:52552063-52552760	NONHSAT067511
28	lnc-ZNF649-3	chr19:52391085-52391189	NONHSAT067485
29	lnc-ZNF613-1	chr19:52479414-52479826	NONHSAT067503
30	lnc-ZNF649-3	chr19:52359056-52359220	NONHSAT067485
31	lnc-ZNF614-1	chr19:52511394-52511470	NONHSAT067506
32	lnc-FPR1-1	chr19:52284430-52284578	XLOC_013388
33	lnc-ZNF613-3	chr19:52439281-52439378	NONHSAT067495
34	lnc-ZNF649-3	chr19:52390841-52391144	NONHSAT067491
35	lnc-ZNF613-1	chr19:52479226-52479321	NONHSAT067499
36	lnc-ZNF613-3	chr19:52432985-52433077	NONHSAT067495
37	lnc-ZNF614-1	chr19:52507670-52507976	NONHSAT067506
38	lnc-ZNF613-1	chr19:52484180-52484603	NONHSAT067501
39	lnc-ZNF649-3	chr19:52383971-52384130	NONHSAT067491
40	lnc-ZNF613-2	chr19:52567017-52567356	ENSG00000245697
41	lnc-ZNF577-1	chr19:52400105-52400472	NONHSAT067493
42	lnc-ZNF577-2	chr19:52346074-52346168	NONHSAT067481
43	lnc-ZNF649-2	chr19:52425261-52425529	expReg_chr19_7235_-
44	lnc-ZNF577-2	chr19:52343756-52344198	ENSG00000268316.1
45	lnc-ZNF613-1	chr19:52484180-52484620	ENSG00000269235.1
46	lnc-ZNF577-2	chr19:52343146-52343370	NONHSAT067481
47	lnc-ZNF613-1	chr19:52452387-52452488	NR_103847
48	lnc-ZNF614-1	chr19:52507035-52507153	NONHSAT067506
49	lnc-ZNF613-2	chr19:52569769-52570821	ENSG00000245697
50	lnc-FPR1-1	chr19:52286673-52286772	NONHSAT067476

No data

Variant related genes	Relation type
ZNF649	TF binding region
ZNF841	TF binding region
ZNF614	TF binding region
ZNF577	TF binding region
HCCAT3	TF binding region
ENSG00000260160	TF binding region
ENSG00000268316	TF binding region
FPR1	TF binding region
ZNF613	TF binding region
ZNF350	TF binding region
ZNF615	TF binding region
ENSG00000269483	TF binding region
ENSG00000270248	TF binding region
FPR3	TF binding region
ENSG00000268095	TF binding region
ZNF432	TF binding region
ZNF649	CpG island
ZNF841	CpG island
ZNF614	CpG island
ZNF577	CpG island
HCCAT3	CpG island
ENSG00000260160	CpG island
ENSG00000268316	CpG island
FPR1	CpG island
ZNF613	CpG island
ZNF350	CpG island
ZNF615	CpG island
ENSG00000269483	CpG island
ENSG00000270248	CpG island
FPR3	CpG island
ENSG00000268095	CpG island
ZNF432	CpG island
ENSG00000268458	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000187474	chromatin interactions
ENSG00000142556	chromatin interactions
ENSG00000104343	chromatin interactions
ENSG00000122958	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000243680	chromatin interactions
ENSG00000268095	chromatin interactions
ENSG00000176024	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000171051	chromatin interactions
ENSG00000197619	chromatin interactions
ENSG00000269235	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000259669	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000161551	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000269483	chromatin interactions
ENSG00000197608	chromatin interactions
ENSG00000238486	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000256683	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000105568	chromatin interactions
MRPL10	miRNA target sites
NCBP2	miRNA target sites
YTHDC2	miRNA target sites
OSBPL11	miRNA target sites
EIF2AK1	miRNA target sites
SUSD1	miRNA target sites
CAMTA1	miRNA target sites
IGSF1	miRNA target sites
HIF1A	miRNA target sites
PIGT	miRNA target sites
TWF1	miRNA target sites

Extended variants
information (count: 13057 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:13057 , 50 per page) page: 1 2 3 4 5 6 7 ... 262

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192147946	chr19:52283519-52283520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577239545	chr19:52283539-52283540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557321552	chr19:52283540-52283541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569089706	chr19:52283563-52283564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56320359	chr19:52283599-52283600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554809394	chr19:52283602-52283603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55898246	chr19:52283612-52283613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35242942	chr19:52283647-52283648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539798294	chr19:52283676-52283677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375317115	chr19:52283810-52283811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562506611	chr19:52283867-52283868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs185004924	chr19:52283892-52283893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12975583	chr19:52283950-52283951	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150934589	chr19:52283975-52283976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140688154	chr19:52283993-52283994	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529898326	chr19:52283994-52283995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542158725	chr19:52284000-52284001	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548076921	chr19:52284016-52284017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560458233	chr19:52284088-52284089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150173796	chr19:52284179-52284180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189334914	chr19:52284207-52284208	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571615740	chr19:52284231-52284232	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371618650	chr19:52284321-52284322	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6509571	chr19:52284323-52284324	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs145615953	chr19:52284324-52284325	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569124797	chr19:52284373-52284374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192468559	chr19:52284387-52284388	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7247415	chr19:52284517-52284518	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7248347	chr19:52284523-52284524	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555855578	chr19:52284524-52284525	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs558316327	chr19:52284529-52284530	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs570133904	chr19:52284532-52284533	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs576750205	chr19:52284550-52284551	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs146985221	chr19:52284565-52284566	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs112961452	chr19:52284629-52284630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs574706126	chr19:52284633-52284634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7248495	chr19:52284671-52284672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs549856942	chr19:52284740-52284741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560467400	chr19:52284754-52284755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527636728	chr19:52284756-52284757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73934606	chr19:52284763-52284764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372469881	chr19:52284793-52284794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111621572	chr19:52284805-52284806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375495381	chr19:52284806-52284807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376518923	chr19:52284814-52284815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73058840	chr19:52284849-52284850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567204302	chr19:52284854-52284855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550684695	chr19:52284866-52284867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115180263	chr19:52284878-52284879	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10410944	chr19:52284908-52284909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Autism	20531469	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9435 , 50 per page) page: 1 2 3 4 5 6 7 ... 189

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52280800-52294000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52281600-52283800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:52281600-52286200	Enhancers	K562	blood
4	chr19:52281600-52287800	Weak transcription	Placenta	Placenta
5	chr19:52281800-52287000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:52281800-52287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:52283600-52284000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr19:52283800-52284400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:52283800-52287000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:52284400-52285200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:52285200-52286000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:52286000-52286800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr19:52286200-52286600	Weak transcription	K562	blood
14	chr19:52286600-52289000	Enhancers	K562	blood
15	chr19:52286800-52287200	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:52286800-52287200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr19:52286800-52287400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr19:52286800-52289000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:52286800-52289200	Enhancers	NHEK	skin
20	chr19:52287000-52287400	Enhancers	HMEC	breast
21	chr19:52287000-52287800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:52287200-52287400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:52287200-52288400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:52287400-52287800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:52287400-52288600	Weak transcription	HMEC	breast
26	chr19:52287400-52288600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:52287600-52287800	Enhancers	Osteobl	bone
28	chr19:52287600-52288400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:52287800-52288000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:52287800-52288000	Flanking Active TSS	Osteobl	bone
31	chr19:52287800-52288400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:52287800-52288800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:52287800-52289000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:52287800-52289000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr19:52287800-52292600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:52287800-52293400	Enhancers	Placenta	Placenta
37	chr19:52288000-52288400	Enhancers	Osteobl	bone
38	chr19:52288000-52288600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:52288400-52288600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:52288400-52288600	Enhancers	Right Atrium	heart
41	chr19:52288400-52288800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:52288400-52288800	Enhancers	Fetal Heart	heart
43	chr19:52288400-52289000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr19:52288400-52289000	Flanking Active TSS	Osteobl	bone
45	chr19:52288600-52288800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr19:52288600-52289000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:52288600-52289000	Enhancers	HMEC	breast
48	chr19:52288600-52289000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:52288600-52289000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr19:52288600-52292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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