Variant report

Variant	nsv534946
Chromosome Location	chr1:46335186-46949309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15435)
CpG islands
(count:11421)
Chromatin interactive
region (count:915)
LncRNA
region (count:62)
Mature miRNA
region (count: 0)
miRNA target
sites (count:7)

(count:15435 , 50 per page) page: 1 2 3 4 5 6 7 ... 309

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:46943131-46943340	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:46712292-46712976	K562	blood:	n/a	n/a
3	ARID3A	chr1:46768856-46769512	K562	blood:	n/a	n/a
4	ARID3A	chr1:46770352-46770701	K562	blood:	n/a	n/a
5	ARID3A	chr1:46358025-46358337	HepG2	liver:	n/a	n/a
6	ARID3A	chr1:46768886-46769505	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:46648727-46649253	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:46350498-46350690	HepG2	liver:	n/a	n/a
9	ARID3A	chr1:46336921-46338303	HepG2	liver:	n/a	n/a
10	ARID3A	chr1:46713822-46714096	K562	blood:	n/a	n/a
11	ARID3A	chr1:46597478-46597577	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:46903455-46903655	K562	blood:	n/a	n/a
13	ARID3A	chr1:46350455-46350607	K562	blood:	n/a	n/a
14	ARID3A	chr1:46753122-46753123	K562	blood:	n/a	n/a
15	ARID3A	chr1:46712864-46713001	HepG2	liver:	n/a	n/a
16	ARID3A	chr1:46598134-46598932	K562	blood:	n/a	chr1:46598845-46598860
17	ARID3A	chr1:46710484-46710920	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:46799245-46799546	HepG2	liver:	n/a	n/a
19	ARID3A	chr1:46595937-46597134	K562	blood:	n/a	n/a
20	ARID3A	chr1:46519550-46519606	K562	blood:	n/a	n/a
21	ARID3A	chr1:46624083-46624650	K562	blood:	n/a	n/a
22	ARID3A	chr1:46770422-46770666	HepG2	liver:	n/a	n/a
23	ARID3A	chr1:46887444-46887670	K562	blood:	n/a	n/a
24	ARID3A	chr1:46806278-46806853	HepG2	liver:	n/a	n/a
25	ARID3A	chr1:46347288-46347573	HepG2	liver:	n/a	n/a
26	ARID3A	chr1:46872150-46872248	K562	blood:	n/a	n/a
27	ARID3A	chr1:46713214-46714073	HepG2	liver:	n/a	n/a
28	ARID3A	chr1:46622047-46622777	K562	blood:	n/a	n/a
29	ARID3A	chr1:46668763-46668963	K562	blood:	n/a	n/a
30	ARID3A	chr1:46859846-46860062	HepG2	liver:	n/a	n/a
31	ARID3A	chr1:46379137-46379290	K562	blood:	n/a	n/a
32	ARID3A	chr1:46710576-46710952	K562	blood:	n/a	n/a
33	ARID3A	chr1:46689258-46689523	K562	blood:	n/a	n/a
34	ARID3A	chr1:46664922-46665108	K562	blood:	n/a	n/a
35	ARID3A	chr1:46813856-46814094	HepG2	liver:	n/a	n/a
36	ARID3A	chr1:46908083-46908716	K562	blood:	n/a	n/a
37	ARID3A	chr1:46689221-46689446	HepG2	liver:	n/a	n/a
38	ARID3A	chr1:46813299-46813403	K562	blood:	n/a	n/a
39	ARID3A	chr1:46806142-46806760	K562	blood:	n/a	n/a
40	ARID3A	chr1:46835473-46835640	K562	blood:	n/a	n/a
41	ARID3A	chr1:46713212-46713507	K562	blood:	n/a	n/a
42	ARID3A	chr1:46799247-46799591	K562	blood:	n/a	n/a
43	ARID3A	chr1:46396414-46396789	K562	blood:	n/a	n/a
44	ARID3A	chr1:46420318-46420492	K562	blood:	n/a	n/a
45	ARID3A	chr1:46912670-46912849	K562	blood:	n/a	n/a
46	ARID3A	chr1:46625369-46625406	K562	blood:	n/a	n/a
47	ARID3A	chr1:46440638-46440907	HepG2	liver:	n/a	n/a
48	ARID3A	chr1:46805702-46805703	K562	blood:	n/a	n/a
49	ARID3A	chr1:46444549-46445261	HepG2	liver:	n/a	n/a
50	ARID3A	chr1:46597452-46597858	K562	blood:	n/a	n/a

(count:11421 , 50 per page) page: 1 2 3 4 5 6 7 ... 229

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46769302-46769352	T-47D	breast:	n/a
2	chr1:46639632-46639682	PANC-1	pancreas:	n/a
3	chr1:46598456-46598506	SAEC	small airway:	n/a
4	chr1:46769230-46769280	NT2-D1	testis:	n/a
5	chr1:46702567-46702617	HL-60	blood:	n/a
6	chr1:46765664-46765714	HRCEpiC	kidney:	n/a
7	chr1:46595677-46595727	BJ	skin:	n/a
8	chr1:46633153-46633203	ECC-1	luminal epithelium:	n/a
9	chr1:46598393-46598443	AG04449	skin:	fetal
10	chr1:46485352-46485402	Hepatocyte	liver:	n/a
11	chr1:46599002-46599052	HRE	kidney:	n/a
12	chr1:46769564-46769614	HRPEpiC	eye:	n/a
13	chr1:46633153-46633203	K562	blood:	n/a
14	chr1:46814106-46814156	PrEC	prostate:	n/a
15	chr1:46769302-46769352	T-47D	breast:	n/a
16	chr1:46639632-46639682	PANC-1	pancreas:	n/a
17	chr1:46598456-46598506	SAEC	small airway:	n/a
18	chr1:46769230-46769280	NT2-D1	testis:	n/a
19	chr1:46702567-46702617	HL-60	blood:	n/a
20	chr1:46765664-46765714	HRCEpiC	kidney:	n/a
21	chr1:46595677-46595727	BJ	skin:	n/a
22	chr1:46633153-46633203	ECC-1	luminal epithelium:	n/a
23	chr1:46598393-46598443	AG04449	skin:	fetal
24	chr1:46485352-46485402	Hepatocyte	liver:	n/a
25	chr1:46599002-46599052	HRE	kidney:	n/a
26	chr1:46769564-46769614	HRPEpiC	eye:	n/a
27	chr1:46633153-46633203	K562	blood:	n/a
28	chr1:46814106-46814156	PrEC	prostate:	n/a
29	chr1:46664340-46664390	Hepatocyte	liver:	n/a
30	chr1:46597359-46597409	SK-N-MC	brain:	n/a
31	chr1:46860260-46860310	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:46769564-46769614	ProgFib	skin:	n/a
33	chr1:46654770-46654820	SK-N-MC	brain:	n/a
34	chr1:46668882-46668932	AG09309	skin:	n/a
35	chr1:46806340-46806390	LNCaP	prostate:	n/a
36	chr1:46940516-46940566	HepG2	liver:	n/a
37	chr1:46769300-46769350	GM12891	blood:	n/a
38	chr1:46806340-46806390	MCF-7	breast:	n/a
39	chr1:46809349-46809399	HRPEpiC	eye:	n/a
40	chr1:46879360-46879410	Caco-2	colon:	n/a
41	chr1:46663971-46664021	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:46664256-46664306	NT2-D1	testis:	n/a
43	chr1:46768592-46768642	GM06990	blood:	n/a
44	chr1:46632871-46632921	NT2-D1	testis:	n/a
45	chr1:46646158-46646208	HRCEpiC	kidney:	n/a
46	chr1:46664937-46664987	CMK	blood:	n/a
47	chr1:46599006-46599056	AG09319	gingival:	n/a
48	chr1:46913787-46913837	NB4	blood:	n/a
49	chr1:46937902-46937952	NHBE	bronchial:	n/a
50	chr1:46814106-46814156	HRCEpiC	kidney:	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Distal block	Cell Line	Cell type
1	chr1:46840664..46843156-chr1:46846498..46848790,3	K562	blood:
2	chr1:45972293..45974739-chr1:46350771..46352345,2	K562	blood:
3	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
4	chr1:46465466..46467155-chr1:46470978..46473043,2	K562	blood:
5	chr1:46663620..46666134-chr1:46670331..46672069,2	MCF-7	breast:
6	chr1:46945138..46947370-chr1:46988064..46989764,2	K562	blood:
7	chr1:46766331..46769180-chr1:46830469..46832651,2	K562	blood:
8	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
9	chr1:46531892..46533650-chr1:46593425..46595448,2	MCF-7	breast:
10	chr1:46738584..46740909-chr1:46761753..46763998,2	K562	blood:
11	chr1:46341326..46343341-chr1:46347257..46349612,2	K562	blood:
12	chr1:46501987..46504531-chr1:46644237..46646306,43	K562	blood:
13	chr1:46806448..46808319-chr1:46834215..46835811,2	K562	blood:
14	chr1:46152211..46153942-chr1:46345305..46348053,3	K562	blood:
15	chr1:46763061..46775715-chr1:46803221..46815018,50	K562	blood:
16	chr1:46822510..46824678-chr1:46824855..46826568,3	K562	blood:
17	chr1:46576565..46579105-chr1:46579628..46581630,2	K562	blood:
18	chr1:46645952..46646536-chr1:46688903..46689405,2	MCF-7	breast:
19	chr1:46370026..46372652-chr1:46374945..46376718,2	K562	blood:
20	chr1:46908155..46911848-chr1:46987375..46989961,4	K562	blood:
21	chr1:46892489..46894612-chr1:46897130..46898844,2	K562	blood:
22	chr1:46715931..46717499-chr1:46724081..46726099,2	K562	blood:
23	chr1:46596539..46599415-chr1:46667478..46670320,3	K562	blood:
24	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:
25	chr1:46648153..46649948-chr1:46767534..46769281,2	MCF-7	breast:
26	chr1:46328886..46331555-chr1:46334023..46336229,2	K562	blood:
27	chr1:46712480..46713199-chr12:1799863..1800503,2	Hela-S3	cervix:
28	chr1:46582397..46588207-chr1:46594983..46600705,8	MCF-7	breast:
29	chr1:46753268..46755813-chr1:46767246..46769063,2	MCF-7	breast:
30	chr1:46152030..46155728-chr1:46349059..46353962,4	K562	blood:
31	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
32	chr1:46393550..46396046-chr1:46401838..46403820,2	K562	blood:
33	chr1:46654141..46655065-chr1:46686530..46687520,2	K562	blood:
34	chr1:46873304..46875119-chr1:46884031..46886700,3	K562	blood:
35	chr1:46912642..46915291-chr1:46916388..46919723,5	K562	blood:
36	chr1:46529779..46532070-chr1:46597161..46598743,2	MCF-7	breast:
37	chr1:46822510..46824113-chr1:46824855..46826568,2	K562	blood:
38	chr1:46729171..46732885-chr1:46767263..46770347,4	K562	blood:
39	chr1:46488776..46491318-chr1:46492009..46494441,2	K562	blood:
40	chr1:46907900..46908616-chr1:47010620..47011226,2	K562	blood:
41	chr1:46663074..46665643-chr1:46680215..46682539,2	K562	blood:
42	chr1:46612783..46615493-chr1:46622624..46624340,2	K562	blood:
43	chr1:46710299..46711235-chr1:106941582..106942441,2	MCF-7	breast:
44	chr1:46334716..46337442-chr1:46355883..46358850,3	K562	blood:
45	chr1:46675947..46678280-chr1:46679542..46682486,2	K562	blood:
46	chr1:46806324..46807165-chr9:139440209..139440818,2	Hela-S3	cervix:
47	chr1:46818189..46820117-chr1:46885005..46887548,2	K562	blood:
48	chr1:46663960..46666474-chr1:46711639..46713994,2	K562	blood:
49	chr1:46270679..46272758-chr1:46394759..46396446,2	K562	blood:
50	chr1:46509116..46511141-chr1:46622794..46625574,2	K562	blood:

(count:62 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAAH-1	chr1:46898696-46898771	NONHSAT003013
2	lnc-DMBX1-1	chr1:46921495-46921582	XLOC_000170
3	lnc-NSUN4-2	chr1:46875724-46876169	NONHSAT003012
4	lnc-FAAH-1	chr1:46901796-46901920	NR_045483
5	lnc-POMGNT1-1	chr1:46641900-46642150	ENSG00000250719.1
6	lnc-FAAH-1	chr1:46899410-46899623	NONHSAT003013
7	lnc-TSPAN1-1	chr1:46604539-46604753	ENSG00000227857.1
8	lnc-KNCN-1	chr1:46913124-46913561	XLOC_000818
9	lnc-UQCRH-2	chr1:46806995-46807267	NONHSAT003008
10	lnc-TSPAN1-1	chr1:46600203-46600326	ENSG00000227857.1
11	lnc-FAAH-1	chr1:46904339-46904354	NONHSAT003013
12	lnc-KNCN-1	chr1:46912345-46912817	XLOC_000818
13	lnc-NSUN4-1	chr1:46836258-46836627	NONHSAT003011
14	lnc-TSPAN1-1	chr1:46600203-46600326	ENSG00000227857.2
15	lnc-FAAH-1	chr1:46898162-46898282	NONHSAT003013
16	lnc-TSPAN1-1	chr1:46599043-46599062	ENSG00000227857.1
17	lnc-MAST2-1	chr1:46512490-46512847	ENSG00000226957.1
18	lnc-UQCRH-2	chr1:46806501-46806591	NONHSAT003008
19	lnc-RAD54L-4	chr1:46720469-46720734	NONHSAT002995
20	lnc-MAST2-1	chr1:46513750-46514040	ENSG00000226957.1
21	lnc-RAD54L-4	chr1:46694082-46694169	NONHSAT002995
22	lnc-FAAH-1	chr1:46903052-46903163	NONHSAT003013
23	lnc-POMGNT1-3	chr1:46637779-46637988	NONHSAT002987
24	lnc-FAAH-1	chr1:46906338-46906377	NR_045483
25	lnc-FAAH-1	chr1:46897801-46897914	NONHSAT003013
26	lnc-LRRC41-1	chr1:46711907-46712269	NONHSAT002997
27	lnc-FAAH-1	chr1:46900879-46900920	NR_045483
28	lnc-POMGNT1-5	chr1:46538644-46539209	expReg_chr1_7434_-
29	lnc-FAAH-1	chr1:46906766-46906874	NR_045483
30	lnc-RAD54L-3	chr1:46711976-46712268	NONHSAT002998
31	lnc-FAAH-1	chr1:46906334-46906373	NONHSAT003013
32	lnc-FAAH-1	chr1:46908564-46908709	NR_045483
33	lnc-TSPAN1-1	chr1:46604539-46604753	ENSG00000227857.2
34	lnc-POMGNT1-7	chr1:46515722-46516517	predAs_engstrom06_CA430007_1
35	lnc-PIK3R3-5	chr1:46413745-46413888	NONHSAT002972
36	lnc-NSUN4-2	chr1:46876486-46876526	NONHSAT003012
37	lnc-FAAH-1	chr1:46910888-46910993	NONHSAT003013
38	lnc-FAAH-1	chr1:46899499-46899619	NR_045483
39	lnc-DMBX1-1	chr1:46947882-46948147	XLOC_000170
40	lnc-PIK3R3-5	chr1:46414487-46414737	NONHSAT002972
41	lnc-POMGNT1-1	chr1:46641158-46641301	ENSG00000250719.1
42	lnc-MAST2-5	chr1:46570622-46570847	NONHSAT002985
43	lnc-PIK3R3-1	chr1:46396865-46397420	ENSG00000248250
44	lnc-POMGNT1-6	chr1:46536976-46537439	expReg_chr1_7431_-
45	lnc-FAAH-1	chr1:46908572-46908692	NONHSAT003013
46	lnc-FAAH-1	chr1:46905195-46905249	NR_045483
47	lnc-RAD54L-3	chr1:46712913-46713033	NONHSAT002998
48	lnc-FAAH-1	chr1:46903937-46904018	NONHSAT003013
49	lnc-LRRC41-2	chr1:46801536-46801822	NONHSAT003007
50	lnc-RAD54L-1	chr1:46705450-46705490	XLOC_000169

No data

(count:7 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	PIK3R3	hsa-miR-346	chr1:46507155-46507148
2	LRRC41	hsa-let-7e-5p	chr1:46744521-46744536
3	POMGNT1	hsa-miR-103a-3p	chr1:46656605-46656628
4	LRRC41	hsa-miR-18a-5p	chr1:46744425-46744447
5	LRRC41	hsa-let-7b-5p	chr1:46744521-46744536
6	POMGNT1	hsa-miR-330-5p	chr1:46656879-46656900
7	POMGNT1	hsa-miR-103a-3p	chr1:46654553-46654575

Variant related genes	Relation type
MAST2	TF binding region
PIK3R3	TF binding region
LURAP1	TF binding region
ENSG00000225779	TF binding region
ENSG00000226957	TF binding region
NSUN4	TF binding region
FAAH	TF binding region
TSPAN1	TF binding region
ENSG00000233114	TF binding region
LRRC41	TF binding region
LINC00505	TF binding region
ENSG00000227857	TF binding region
POMGNT1	TF binding region
ENSG00000250719	TF binding region
ENSG00000232022	TF binding region
ENSG00000224863	TF binding region
UQCRH	TF binding region
RAD54L	TF binding region
MAST2	CpG island
PIK3R3	CpG island
LURAP1	CpG island
ENSG00000225779	CpG island
ENSG00000226957	CpG island
NSUN4	CpG island
FAAH	CpG island
TSPAN1	CpG island
ENSG00000233114	CpG island
LRRC41	CpG island
LINC00505	CpG island
ENSG00000227857	CpG island
POMGNT1	CpG island
ENSG00000250719	CpG island
ENSG00000232022	CpG island
ENSG00000224863	CpG island
UQCRH	CpG island
RAD54L	CpG island
ENSG00000227857	chromatin interactions
ENSG00000168906	chromatin interactions
ENSG00000172059	chromatin interactions
ENSG00000171357	chromatin interactions
ENSG00000110321	chromatin interactions
ENSG00000271270	chromatin interactions
ENSG00000131931	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184445	chromatin interactions
ENSG00000204439	chromatin interactions
ENSG00000225667	chromatin interactions
ENSG00000172765	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000132128	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000181467	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000100815	chromatin interactions
ENSG00000165732	chromatin interactions
ENSG00000117472	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000151353	chromatin interactions
ENSG00000148400	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000226957	chromatin interactions
ENSG00000237886	chromatin interactions
ENSG00000181885	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000085999	chromatin interactions
ENSG00000233296	chromatin interactions
ENSG00000006831	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000263721	chromatin interactions
ENSG00000232467	chromatin interactions
ENSG00000265181	chromatin interactions
ENSG00000225779	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000250719	chromatin interactions
ENSG00000117481	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000137200	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000092439	chromatin interactions
ENSG00000117480	chromatin interactions
ENSG00000085998	chromatin interactions
ENSG00000145022	chromatin interactions
ENSG00000103091	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000224863	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000111011	chromatin interactions
ENSG00000086015	chromatin interactions
ENSG00000229337	chromatin interactions
ENSG00000203875	chromatin interactions
ENSG00000170144	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000134686	chromatin interactions
ENSG00000120686	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000232022	chromatin interactions
ENSG00000067560	chromatin interactions
ENSG00000117448	chromatin interactions
ENSG00000162456	chromatin interactions
ENSG00000173660	chromatin interactions
ENSG00000059804	chromatin interactions
ENSG00000159658	chromatin interactions
ENSG00000197771	chromatin interactions
ENSG00000065457	chromatin interactions

Extended variants
information (count: 22760 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:22760 , 50 per page) page: 1 2 3 4 5 6 7 ... 456

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559395121	chr1:46335210-46335211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79330906	chr1:46335248-46335249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535305872	chr1:46335266-46335267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547675213	chr1:46335293-46335294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61783220	chr1:46335312-46335313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs539842134	chr1:46335319-46335320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373812435	chr1:46335336-46335337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558225718	chr1:46335339-46335340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373553422	chr1:46335417-46335418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186151345	chr1:46335432-46335433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537522908	chr1:46335493-46335494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555593033	chr1:46335494-46335495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564835795	chr1:46335530-46335531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574134933	chr1:46335555-46335556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140012262	chr1:46335583-46335584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370322850	chr1:46335584-46335585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58270514	chr1:46335610-46335611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541266291	chr1:46335636-46335637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369689084	chr1:46335650-46335651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11211209	chr1:46335652-46335653	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs535109605	chr1:46335681-46335682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577957927	chr1:46335728-46335729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569873292	chr1:46335753-46335754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11211210	chr1:46335771-46335772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563766662	chr1:46335773-46335774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531230698	chr1:46335786-46335787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189349299	chr1:46335860-46335861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115976328	chr1:46335951-46335952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181931843	chr1:46336043-46336044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529038637	chr1:46336051-46336052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555599609	chr1:46336071-46336072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547662607	chr1:46336085-46336086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200907480	chr1:46336124-46336125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149034005	chr1:46336127-46336128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202149597	chr1:46336186-46336187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72001420	chr1:46336187-46336188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372043599	chr1:46336188-46336189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35057731	chr1:46336203-46336204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201022330	chr1:46336204-46336205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562941797	chr1:46336231-46336232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144637090	chr1:46336385-46336386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539780572	chr1:46336429-46336430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs572352828	chr1:46336433-46336434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534942204	chr1:46336448-46336449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537056586	chr1:46336467-46336468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs542299976	chr1:46336476-46336477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146700243	chr1:46336478-46336479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs376844111	chr1:46336533-46336534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs534879805	chr1:46336565-46336566	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10890359	chr1:46336635-46336636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:108)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Barrett''s syndrome	19417022	CNVD
Neuroblastoma	21899760	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Rett syndrome	21593744	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:16483 , 50 per page) page: 1 2 3 4 5 6 7 ... 330

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46322000-46337600	Weak transcription	Hela-S3	cervix
2	chr1:46330200-46337800	Weak transcription	NHEK	skin
3	chr1:46330200-46353200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46330200-46357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:46330800-46336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:46330800-46337000	Weak transcription	Brain Substantia Nigra	brain
7	chr1:46330800-46337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:46330800-46337400	Weak transcription	HSMM	muscle
9	chr1:46330800-46341600	Weak transcription	K562	blood
10	chr1:46330800-46342400	Weak transcription	Psoas Muscle	Psoas
11	chr1:46331000-46337000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:46331200-46337000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:46331400-46337000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:46332200-46357400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:46332400-46342400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:46333000-46337000	Enhancers	A549	lung
17	chr1:46333400-46348200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:46333800-46336400	Enhancers	HepG2	liver
19	chr1:46333800-46337600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:46333800-46357400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:46334000-46336400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:46334000-46337000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:46334000-46337800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:46334200-46336400	Weak transcription	Liver	Liver
25	chr1:46334400-46336400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:46334800-46335200	Enhancers	Fetal Heart	heart
27	chr1:46334800-46336800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:46335000-46335200	Active TSS	Fetal Brain Female	brain
29	chr1:46335000-46337000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:46335000-46337200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:46335200-46335600	Enhancers	Fetal Brain Female	brain
32	chr1:46335800-46336000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:46335800-46337000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:46336200-46338000	Enhancers	Osteobl	bone
35	chr1:46336400-46336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:46336400-46336600	Enhancers	Fetal Brain Male	brain
37	chr1:46336400-46336600	Enhancers	Small Intestine	intestine
38	chr1:46336400-46337000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:46336400-46338200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:46336400-46338400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:46336400-46338400	Enhancers	Liver	Liver
42	chr1:46336400-46338400	Flanking Active TSS	HepG2	liver
43	chr1:46336600-46345400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:46336600-46356800	Weak transcription	Small Intestine	intestine
45	chr1:46336600-46357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:46336800-46337000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:46337000-46337200	Weak transcription	NHLF	lung
48	chr1:46337000-46337400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr1:46337000-46337600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:46337000-46337600	Enhancers	Brain Angular Gyrus	brain

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