Variant report

Variant	nsv1064732
Chromosome Location	chr19:52273257-52617390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5980)
CpG islands
(count:7516)
Chromatin interactive
region (count:270)
LncRNA
region (count:104)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5980 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:52333617-52333822	K562	blood:	n/a	n/a
2	ARID3A	chr19:52489958-52490423	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:52407793-52408814	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:52299117-52300997	K562	blood:	n/a	n/a
5	ARID3A	chr19:52298176-52298372	K562	blood:	n/a	n/a
6	ARID3A	chr19:52303443-52304384	K562	blood:	n/a	n/a
7	ARID3A	chr19:52311894-52312194	K562	blood:	n/a	n/a
8	ARID3A	chr19:52288166-52289145	K562	blood:	n/a	n/a
9	ARID3A	chr19:52286712-52286989	K562	blood:	n/a	n/a
10	ARID3A	chr19:52555017-52555116	HepG2	liver:	n/a	n/a
11	ARID3A	chr19:52308170-52308456	HepG2	liver:	n/a	n/a
12	ARID3A	chr19:52302554-52302890	K562	blood:	n/a	n/a
13	ARID3A	chr19:52274862-52275001	K562	blood:	n/a	n/a
14	ARID3A	chr19:52307809-52308459	K562	blood:	n/a	n/a
15	ARID3A	chr19:52281095-52281512	K562	blood:	n/a	n/a
16	ARID3A	chr19:52511381-52511632	HepG2	liver:	n/a	n/a
17	ARID3A	chr19:52603068-52603334	HepG2	liver:	n/a	n/a
18	ARID3A	chr19:52598763-52599031	HepG2	liver:	n/a	n/a
19	ARID3A	chr19:52310240-52311002	K562	blood:	n/a	n/a
20	ARID3A	chr19:52313645-52313812	HepG2	liver:	n/a	n/a
21	ARID3A	chr19:52407414-52407541	HepG2	liver:	n/a	n/a
22	ARID3A	chr19:52551838-52552062	K562	blood:	n/a	n/a
23	ARID3A	chr19:52552024-52552805	HepG2	liver:	n/a	n/a
24	ARID3A	chr19:52313557-52313692	K562	blood:	n/a	n/a
25	ARID3A	chr19:52306606-52307609	K562	blood:	n/a	n/a
26	ARID3A	chr19:52531625-52531875	K562	blood:	n/a	n/a
27	ARID3A	chr19:52408187-52408572	K562	blood:	n/a	n/a
28	ARID3A	chr19:52531399-52531960	HepG2	liver:	n/a	n/a
29	ATF1	chr19:52430091-52430806	K562	blood:	n/a	n/a
30	ATF1	chr19:52282997-52283290	K562	blood:	n/a	n/a
31	ATF1	chr19:52594171-52594249	K562	blood:	n/a	n/a
32	ATF1	chr19:52463795-52464169	K562	blood:	n/a	n/a
33	ATF1	chr19:52531294-52532287	K562	blood:	n/a	n/a
34	ATF1	chr19:52303528-52304254	K562	blood:	n/a	n/a
35	ATF1	chr19:52286699-52286989	K562	blood:	n/a	n/a
36	ATF1	chr19:52313567-52313801	K562	blood:	n/a	n/a
37	ATF1	chr19:52290370-52290609	K562	blood:	n/a	n/a
38	ATF1	chr19:52310327-52310825	K562	blood:	n/a	n/a
39	ATF1	chr19:52480697-52480890	K562	blood:	n/a	n/a
40	ATF1	chr19:52299358-52299816	K562	blood:	n/a	n/a
41	ATF1	chr19:52551777-52552810	K562	blood:	n/a	n/a
42	ATF1	chr19:52288144-52288776	K562	blood:	n/a	n/a
43	ATF1	chr19:52302531-52302910	K562	blood:	n/a	n/a
44	ATF1	chr19:52325702-52325884	K562	blood:	n/a	n/a
45	ATF1	chr19:52308082-52308473	K562	blood:	n/a	n/a
46	ATF2	chr19:52394264-52394760	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr19:52430063-52430883	GM12878	blood:	n/a	n/a
48	ATF2	chr19:52430232-52430844	GM12878	blood:	n/a	n/a
49	ATF2	chr19:52531446-52531834	GM12878	blood:	n/a	n/a
50	ATF2	chr19:52429861-52430848	H1-hESC	embryonic stem cell:	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	chr19:52408336-52408386	HIPEpiC	eye:	n/a
2	chr19:52408259-52408309	U87	brain:	n/a
3	chr19:52490211-52490261	ProgFib	skin:	n/a
4	chr19:52452808-52452858	AG09309	skin:	n/a
5	chr19:52531956-52532006	MCF-7	breast:	n/a
6	chr19:52489783-52489833	HIPEpiC	eye:	n/a
7	chr19:52430334-52430384	GM12878	blood:	n/a
8	chr19:52391234-52391284	NHBE	bronchial:	n/a
9	chr19:52490127-52490177	NH-A	brain:	n/a
10	chr19:52452094-52452144	AG04450	lung:	fetal
11	chr19:52490058-52490108	ovcar-3	ovarian:	n/a
12	chr19:52408322-52408372	ovcar-3	ovarian:	n/a
13	chr19:52511513-52511563	AG04449	skin:	fetal
14	chr19:52408336-52408386	HIPEpiC	eye:	n/a
15	chr19:52408259-52408309	U87	brain:	n/a
16	chr19:52490211-52490261	ProgFib	skin:	n/a
17	chr19:52452808-52452858	AG09309	skin:	n/a
18	chr19:52531956-52532006	MCF-7	breast:	n/a
19	chr19:52489783-52489833	HIPEpiC	eye:	n/a
20	chr19:52430334-52430384	GM12878	blood:	n/a
21	chr19:52391234-52391284	NHBE	bronchial:	n/a
22	chr19:52490127-52490177	NH-A	brain:	n/a
23	chr19:52452094-52452144	AG04450	lung:	fetal
24	chr19:52490058-52490108	ovcar-3	ovarian:	n/a
25	chr19:52408322-52408372	ovcar-3	ovarian:	n/a
26	chr19:52511513-52511563	AG04449	skin:	fetal
27	chr19:52511510-52511560	SK-N-MC	brain:	n/a
28	chr19:52552213-52552263	HNPCEpiC	eye:	n/a
29	chr19:52452808-52452858	PANC-1	pancreas:	n/a
30	chr19:52391257-52391307	PANC-1	pancreas:	n/a
31	chr19:52409580-52409630	HMEC	breast:	n/a
32	chr19:52511370-52511420	GM06990	blood:	n/a
33	chr19:52490069-52490119	Caco-2	colon:	n/a
34	chr19:52395190-52395240	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:52391250-52391300	AG09309	skin:	n/a
36	chr19:52511778-52511828	HRPEpiC	eye:	n/a
37	chr19:52489829-52489879	A549	lung:	n/a
38	chr19:52511370-52511420	AG04449	skin:	fetal
39	chr19:52452094-52452144	A549	lung:	n/a
40	chr19:52517812-52517862	CMK	blood:	n/a
41	chr19:52598983-52599033	HIPEpiC	eye:	n/a
42	chr19:52490223-52490273	HepG2	liver:	n/a
43	chr19:52408350-52408400	AoSMC	blood vessel:	n/a
44	chr19:52531438-52531488	HIPEpiC	eye:	n/a
45	chr19:52489829-52489879	NB4	blood:	n/a
46	chr19:52430334-52430384	PrEC	prostate:	n/a
47	chr19:52551618-52551668	AG10803	skin:	n/a
48	chr19:52490173-52490223	CMK	blood:	n/a
49	chr19:52511504-52511554	GM12878	blood:	n/a
50	chr19:52531703-52531753	H1-hESC	embryonic stem cell:	embryo

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr19:52429682..52431408-chr19:52488412..52490236,2	MCF-7	breast:
2	chr19:52587609..52589157-chr19:52597921..52600004,2	MCF-7	breast:
3	chr19:52397025..52399496-chr19:52401258..52403810,3	K562	blood:
4	chr19:52399759..52403972-chr19:52406809..52409528,3	K562	blood:
5	chr19:52237851..52239794-chr19:52278357..52281103,2	K562	blood:
6	chr13:113950696..113951506-chr19:52392138..52393042,2	Hela-S3	cervix:
7	chr19:52568955..52571795-chr19:52572107..52574961,2	MCF-7	breast:
8	chr19:52339899..52342041-chr19:52352045..52353775,2	K562	blood:
9	chr19:52536419..52538277-chr19:52545256..52546905,2	MCF-7	breast:
10	chr19:52286760..52288347-chr19:52288825..52290368,2	MCF-7	breast:
11	chr19:52583726..52585349-chr19:53074729..53076869,2	K562	blood:
12	chr19:52551202..52553746-chr19:52596231..52599092,3	K562	blood:
13	chr19:52429274..52431583-chr19:52530838..52533041,2	MCF-7	breast:
14	chr19:52523062..52525368-chr19:52526068..52528537,2	MCF-7	breast:
15	chr19:52388375..52390016-chr19:52406809..52409493,2	K562	blood:
16	chr19:52588475..52590807-chr19:52591326..52593496,3	K562	blood:
17	chr17:41463656..41466304-chr19:52468139..52469659,2	K562	blood:
18	chr19:52431477..52433733-chr19:52438060..52439742,2	K562	blood:
19	chr19:52285688..52288417-chr19:52288540..52290240,2	K562	blood:
20	chr19:52525865..52528681-chr19:52539108..52541347,2	MCF-7	breast:
21	chr19:52373914..52379231-chr19:52379768..52383355,4	K562	blood:
22	chr19:52279990..52282801-chr19:52283361..52284878,2	MCF-7	breast:
23	chr19:52495447..52499053-chr19:52500627..52503921,5	K562	blood:
24	chr19:52407275..52408270-chr8:74790610..74791354,2	NB4	blood:
25	chr19:52317917..52321992-chr19:52406046..52408700,3	K562	blood:
26	chr19:52286760..52288347-chr19:52288825..52290368,2	MCF-7	breast:
27	chr19:52547824..52550182-chr19:52693105..52694870,2	K562	blood:
28	chr19:52528365..52531189-chr19:52598052..52600435,2	K562	blood:
29	chr19:52388696..52390299-chr19:52393363..52395267,2	K562	blood:
30	chr19:52505792..52508721-chr19:52508745..52510536,2	K562	blood:
31	chr19:52279714..52282274-chr19:52309726..52312482,2	MCF-7	breast:
32	chr19:52266346..52268006-chr19:52288638..52290358,2	K562	blood:
33	chr19:52395803..52397740-chr19:52406948..52409418,2	K562	blood:
34	chr19:52388696..52390299-chr19:52393363..52395267,2	K562	blood:
35	chr19:52504954..52508127-chr19:52509036..52512769,6	K562	blood:
36	chr19:52306935..52308670-chr19:52309140..52312015,2	K562	blood:
37	chr19:52327504..52330084-chr19:52332158..52334716,2	K562	blood:
38	chr19:52286428..52287255-chr19:52311675..52312485,2	K562	blood:
39	chr19:52536419..52538277-chr19:52545256..52546905,2	MCF-7	breast:
40	chr19:52288793..52290684-chr19:52309015..52310845,2	MCF-7	breast:
41	chr19:52368961..52371944-chr19:52488370..52489991,2	K562	blood:
42	chr19:52204118..52207726-chr19:52271324..52274498,3	K562	blood:
43	chr19:52302303..52304352-chr19:52308836..52310824,2	K562	blood:
44	chr19:52351131..52353824-chr19:52364470..52367070,2	K562	blood:
45	chr19:52388375..52390016-chr19:52406809..52409493,2	K562	blood:
46	chr19:52590181..52592950-chr19:52598268..52601252,2	MCF-7	breast:
47	chr19:52463061..52465031-chr19:52467660..52469161,2	K562	blood:
48	chr19:52489566..52491908-chr19:52529966..52531753,2	MCF-7	breast:
49	chr19:52339899..52342041-chr19:52352045..52353775,2	K562	blood:
50	chr19:52473716..52475696-chr19:52475835..52477882,2	MCF-7	breast:

(count:104 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF613-4	chr19:52403376-52403716	ENSG00000268095.1
2	lnc-ZNF615-1	chr19:52476220-52477784	NONHSAT067502
3	lnc-ZNF613-2	chr19:52567017-52567356	ENSG00000245697
4	lnc-ZNF649-3	chr19:52359056-52359220	NR_024181
5	lnc-FPR1-1	chr19:52286673-52286772	NONHSAT067476
6	lnc-ZNF613-1	chr19:52452387-52452488	ENSG00000269235.1
7	lnc-ZNF649-3	chr19:52381642-52381768	NR_024181
8	lnc-ZNF649-3	chr19:52383932-52384130	NONHSAT067489
9	lnc-FPR1-1	chr19:52282890-52283234	XLOC_013388
10	lnc-ZNF577-2	chr19:52346074-52346166	ENSG00000269483.1
11	lnc-ZNF577-2	chr19:52342867-52343370	NONHSAT067482
12	lnc-ZNF649-2	chr19:52425261-52425529	expReg_chr19_7235_-
13	lnc-ZNF613-1	chr19:52479644-52479826	ENSG00000269235.1
14	lnc-ZNF577-2	chr19:52343756-52344198	ENSG00000268316.1
15	lnc-ZNF649-3	chr19:52383951-52384130	NONHSAT067490
16	lnc-ZNF613-3	chr19:52430400-52430793	NONHSAT067495
17	lnc-ZNF613-1	chr19:52484180-52484603	NONHSAT067501
18	lnc-ZNF649-3	chr19:52390074-52390165	NONHSAT067491
19	lnc-ZNF649-3	chr19:52359057-52359220	NONHSAT067486
20	lnc-ZNF613-1	chr19:52474396-52474419	NONHSAT067501
21	lnc-ZNF613-3	chr19:52432985-52433077	NONHSAT067495
22	lnc-ZNF577-3	chr19:52307980-52308507	NONHSAT067477
23	lnc-ZNF613-1	chr19:52452415-52452488	NONHSAT067499
24	lnc-ZNF577-2	chr19:52343177-52343370	ENSG00000269483.1
25	lnc-ZNF613-1	chr19:52479644-52479826	NONHSAT067500
26	lnc-ZNF649-3	chr19:52390074-52390165	NR_024181
27	lnc-ZNF577-2	chr19:52343024-52343132	ENSG00000268316.1
28	lnc-ZNF614-1	chr19:52507102-52507153	NONHSAT067507
29	lnc-ZNF613-1	chr19:52484180-52484620	ENSG00000269235.1
30	lnc-ZNF613-1	chr19:52484180-52484613	ENSG00000246125
31	lnc-ZNF613-1	chr19:52452415-52452488	ENSG00000246125
32	lnc-ZNF613-1	chr19:52484180-52484598	NONHSAT067503
33	lnc-ZNF649-3	chr19:52383932-52384130	NR_024181
34	lnc-ZNF613-3	chr19:52439281-52439378	NONHSAT067495
35	lnc-ZNF613-2	chr19:52567872-52568844	ENSG00000245697
36	lnc-ZNF613-6	chr19:52518894-52519892	NONHSAT067509
37	lnc-ZNF577-2	chr19:52346442-52346577	ENSG00000269483.1
38	lnc-ZNF841-1	chr19:52561744-52562360	ENSG00000249246
39	lnc-ZNF841-1	chr19:52561743-52562360	ENSG00000260160.1
40	lnc-ZNF577-3	chr19:52314710-52314992	NONHSAT067478
41	lnc-ZNF613-1	chr19:52479644-52479826	ENSG00000246125
42	lnc-ZNF613-1	chr19:52479644-52479826	NONHSAT067498
43	lnc-ZNF577-2	chr19:52346074-52346186	NONHSAT067482
44	lnc-ZNF577-3	chr19:52307980-52308424	NONHSAT067478
45	lnc-ZNF649-3	chr19:52364157-52364332	NONHSAT067488
46	lnc-ZNF577-1	chr19:52400105-52400472	NONHSAT067493
47	lnc-FPR1-1	chr19:52284430-52284578	XLOC_013388
48	lnc-ZNF577-2	chr19:52346074-52346168	NONHSAT067481
49	lnc-ZNF613-7	chr19:52551253-52553075	NONHSAT067510
50	lnc-ZNF613-1	chr19:52484180-52484615	NONHSAT067500

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
ENSG00000269483	TF binding region
ENSG00000268316	TF binding region
FPR1	TF binding region
ENSG00000270248	TF binding region
ZNF613	TF binding region
ZNF350	TF binding region
FPR3	TF binding region
ENSG00000268095	TF binding region
ZNF615	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
ENSG00000269483	CpG island
ENSG00000268316	CpG island
FPR1	CpG island
ENSG00000270248	CpG island
ZNF613	CpG island
ZNF350	CpG island
FPR3	CpG island
ENSG00000268095	CpG island
ZNF615	CpG island
ZNF432	CpG island
ENSG00000182310	chromatin interactions
ENSG00000187474	chromatin interactions
ENSG00000197619	chromatin interactions
ENSG00000196214	chromatin interactions
ENSG00000160318	chromatin interactions
ENSG00000256087	chromatin interactions
ENSG00000142556	chromatin interactions
ENSG00000269235	chromatin interactions
ENSG00000269403	chromatin interactions
ENSG00000197608	chromatin interactions
ENSG00000269483	chromatin interactions
ENSG00000176024	chromatin interactions
ENSG00000105509	chromatin interactions
ENSG00000256683	chromatin interactions
ENSG00000161551	chromatin interactions
ENSG00000268458	chromatin interactions
ENSG00000104343	chromatin interactions
ENSG00000243680	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000238486	chromatin interactions
ENSG00000171049	chromatin interactions
ENSG00000204611	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000198093	chromatin interactions
ENSG00000122958	chromatin interactions
ENSG00000171051	chromatin interactions
ENSG00000259669	chromatin interactions
ENSG00000105568	chromatin interactions
ENSG00000268095	chromatin interactions
GIGYF1	miRNA target sites
PIGT	miRNA target sites
EIF2AK1	miRNA target sites
IGSF1	miRNA target sites
HIF1A	miRNA target sites
CAMTA1	miRNA target sites
SUSD1	miRNA target sites
YTHDC2	miRNA target sites
TWF1	miRNA target sites
OSBPL11	miRNA target sites
MRPL10	miRNA target sites
NCBP2	miRNA target sites

Extended variants
information (count: 13423 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:13423 , 50 per page) page: 1 2 3 4 5 6 7 ... 269

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17695064	chr19:52273257-52273258	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548129447	chr19:52273258-52273259	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376141356	chr19:52273302-52273303	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566342250	chr19:52273352-52273353	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539451252	chr19:52273360-52273361	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551349167	chr19:52273397-52273398	Enhancers Genic enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs551393264	chr19:52273404-52273405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569631281	chr19:52273459-52273460	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569975765	chr19:52273505-52273506	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs536788032	chr19:52273508-52273509	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147462239	chr19:52273584-52273585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187291482	chr19:52273613-52273614	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534484136	chr19:52273657-52273658	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs55794581	chr19:52273658-52273659	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535988451	chr19:52273667-52273668	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375159239	chr19:52273684-52273685	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145694009	chr19:52273689-52273690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544900620	chr19:52273747-52273748	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35340049	chr19:52273840-52273841	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs564361859	chr19:52273858-52273859	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576367620	chr19:52273861-52273862	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs112769191	chr19:52273868-52273869	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs7257041	chr19:52273875-52273876	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147745296	chr19:52273891-52273892	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183945849	chr19:52273924-52273925	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs76928013	chr19:52273945-52273946	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188181024	chr19:52273948-52273949	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs141066763	chr19:52273952-52273953	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs180672635	chr19:52273963-52273964	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537031163	chr19:52273966-52273967	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560292500	chr19:52274014-52274015	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149828197	chr19:52274059-52274060	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191144521	chr19:52274147-52274148	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs367562639	chr19:52274150-52274151	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552793500	chr19:52274156-52274157	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs185626280	chr19:52274272-52274273	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs35155020	chr19:52274287-52274288	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78249532	chr19:52274298-52274299	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs79700752	chr19:52274299-52274300	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538578350	chr19:52274315-52274316	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190784069	chr19:52274387-52274388	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145789569	chr19:52274410-52274411	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149065456	chr19:52274436-52274437	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs149737464	chr19:52274451-52274452	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs562050105	chr19:52274488-52274489	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs144640150	chr19:52274496-52274497	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs202202328	chr19:52274516-52274517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556887458	chr19:52274539-52274540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs182016145	chr19:52274557-52274558	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560030429	chr19:52274787-52274788	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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:9564 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52268600-52274400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:52269000-52274400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:52270000-52274800	Weak transcription	Ovary	ovary
4	chr19:52272000-52274800	Weak transcription	K562	blood
5	chr19:52272600-52281000	Weak transcription	Placenta	Placenta
6	chr19:52273000-52274400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:52273000-52274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:52273000-52276000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:52273200-52273400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr19:52273200-52273400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr19:52273200-52276600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:52273400-52273600	Enhancers	Primary B cells from cord blood	blood
13	chr19:52273400-52273800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:52273600-52274200	Weak transcription	Primary B cells from cord blood	blood
15	chr19:52273800-52274400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:52274200-52274600	Enhancers	Primary B cells from cord blood	blood
17	chr19:52274400-52274600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr19:52274400-52274600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:52274400-52275000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr19:52274400-52275000	Enhancers	Primary hematopoietic stem cells	blood
21	chr19:52274400-52275400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:52274600-52274800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:52274600-52275400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:52274800-52275000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:52274800-52275200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr19:52274800-52275200	Active TSS	Ovary	ovary
27	chr19:52274800-52275400	Enhancers	K562	blood
28	chr19:52275000-52275200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:52275000-52275600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr19:52275000-52276600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr19:52275200-52275400	Bivalent Enhancer	Primary B cells from cord blood	blood
32	chr19:52275200-52275400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr19:52275200-52275400	Enhancers	Osteobl	bone
34	chr19:52275200-52275600	Bivalent Enhancer	Ovary	ovary
35	chr19:52275200-52275800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr19:52275400-52275800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr19:52275400-52280600	Weak transcription	K562	blood
38	chr19:52275600-52275800	Active TSS	Primary hematopoietic stem cells	blood
39	chr19:52276000-52276400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:52276400-52276800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr19:52276600-52280800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr19:52276800-52277600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr19:52277600-52279000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:52279000-52279200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:52279000-52279400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr19:52279000-52281000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr19:52279200-52281000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr19:52279400-52280800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr19:52280400-52281000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:52280400-52281000	Weak transcription	Osteobl	bone

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