Variant report

Variant	nsv428128
Chromosome Location	chr5:145503978-145682880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2705)
CpG islands
(count:1222)
Chromatin interactive
region (count:143)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:2705 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:145582474-145583196	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:145572277-145572484	K562	blood:	n/a	n/a
3	ARID3A	chr5:145561689-145562556	K562	blood:	n/a	n/a
4	ARID3A	chr5:145593038-145593693	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:145516863-145516977	K562	blood:	n/a	n/a
6	ARID3A	chr5:145517540-145518017	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:145670992-145671314	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:145561812-145562714	HepG2	liver:	n/a	n/a
9	ARID3A	chr5:145570492-145570635	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:145592962-145593348	K562	blood:	n/a	n/a
11	ARID3A	chr5:145548626-145549020	HepG2	liver:	n/a	n/a
12	ARID3A	chr5:145582257-145583366	K562	blood:	n/a	n/a
13	ATF1	chr5:145551256-145551280	K562	blood:	n/a	n/a
14	ATF1	chr5:145572359-145572575	K562	blood:	n/a	n/a
15	ATF1	chr5:145582723-145583251	K562	blood:	n/a	n/a
16	ATF1	chr5:145510077-145510250	K562	blood:	n/a	n/a
17	ATF1	chr5:145561969-145562643	K562	blood:	n/a	n/a
18	ATF2	chr5:145582523-145583339	GM12878	blood:	n/a	n/a
19	ATF2	chr5:145585728-145586264	GM12878	blood:	n/a	n/a
20	ATF2	chr5:145561795-145562742	H1-hESC	embryonic stem cell:	n/a	chr5:145562365-145562376
21	ATF2	chr5:145561804-145562616	GM12878	blood:	n/a	chr5:145562365-145562376
22	ATF2	chr5:145561863-145562720	GM12878	blood:	n/a	chr5:145562365-145562376
23	ATF2	chr5:145582497-145583292	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF2	chr5:145561959-145562657	H1-hESC	embryonic stem cell:	n/a	chr5:145562365-145562376
25	ATF2	chr5:145553057-145553609	GM12878	blood:	n/a	n/a
26	ATF3	chr5:145561978-145562457	H1-hESC	embryonic stem cell:	n/a	chr5:145562364-145562375 chr5:145562363-145562376 chr5:145562366-145562377 chr5:145562367-145562377 chr5:145562367-145562374 chr5:145562365-145562378 chr5:145562366-145562374 chr5:145562363-145562378 chr5:145562364-145562374 chr5:145562367-145562375 chr5:145562355-145562375
27	ATF3	chr5:145581363-145581609	K562	blood:	n/a	n/a
28	ATF3	chr5:145517501-145517708	HepG2	liver:	n/a	n/a
29	ATF3	chr5:145572119-145572521	K562	blood:	n/a	n/a
30	ATF3	chr5:145582548-145583298	A549	lung:	n/a	chr5:145582838-145582846
31	ATF3	chr5:145562029-145562500	K562	blood:	n/a	chr5:145562364-145562375 chr5:145562363-145562376 chr5:145562366-145562377 chr5:145562367-145562377 chr5:145562367-145562374 chr5:145562365-145562378 chr5:145562366-145562374 chr5:145562363-145562378 chr5:145562364-145562374 chr5:145562367-145562375 chr5:145562355-145562375
32	ATF3	chr5:145572846-145573233	K562	blood:	n/a	n/a
33	ATF3	chr5:145561794-145562750	A549	lung:	n/a	chr5:145562364-145562375 chr5:145562363-145562376 chr5:145562366-145562377 chr5:145562367-145562377 chr5:145562367-145562374 chr5:145562365-145562378 chr5:145562366-145562374 chr5:145562363-145562378 chr5:145562364-145562374 chr5:145562367-145562375 chr5:145562355-145562375
34	ATF3	chr5:145561913-145562552	K562	blood:	n/a	chr5:145562364-145562375 chr5:145562363-145562376 chr5:145562366-145562377 chr5:145562367-145562377 chr5:145562367-145562374 chr5:145562365-145562378 chr5:145562366-145562374 chr5:145562363-145562378 chr5:145562364-145562374 chr5:145562367-145562375 chr5:145562355-145562375
35	ATF3	chr5:145561998-145562564	A549	lung:	n/a	chr5:145562364-145562375 chr5:145562363-145562376 chr5:145562366-145562377 chr5:145562367-145562377 chr5:145562367-145562374 chr5:145562365-145562378 chr5:145562366-145562374 chr5:145562363-145562378 chr5:145562364-145562374 chr5:145562367-145562375 chr5:145562355-145562375
36	BACH1	chr5:145620815-145620864	K562	blood:	n/a	n/a
37	BACH1	chr5:145561812-145562672	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr5:145582529-145582857	K562	blood:	n/a	n/a
39	BACH1	chr5:145582680-145583388	H1-hESC	embryonic stem cell:	n/a	n/a
40	BATF	chr5:145562035-145562498	GM12878	blood:	n/a	n/a
41	BATF	chr5:145618600-145618803	GM12878	blood:	n/a	chr5:145618713-145618724
42	BATF	chr5:145562738-145563155	GM12878	blood:	n/a	n/a
43	BATF	chr5:145562820-145563124	GM12878	blood:	n/a	n/a
44	BATF	chr5:145582607-145582889	GM12878	blood:	n/a	chr5:145582770-145582780
45	BATF	chr5:145582596-145583207	GM12878	blood:	n/a	chr5:145582770-145582780
46	BCL11A	chr5:145553130-145553474	GM12878	blood:	n/a	n/a
47	BCL3	chr5:145582511-145582937	GM12878	blood:	n/a	chr5:145582769-145582778 chr5:145582882-145582895 chr5:145582885-145582898
48	BCL3	chr5:145561846-145562716	A549	lung:	n/a	n/a
49	BCL3	chr5:145561680-145562656	A549	lung:	n/a	n/a
50	BCLAF1	chr5:145553066-145553628	GM12878	blood:	n/a	n/a

(count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:145562530-145562580	HEEpiC	esophagus:	n/a
2	chr5:145583408-145583458	HepG2	liver:	n/a
3	chr5:145562530-145562580	HEEpiC	esophagus:	n/a
4	chr5:145583408-145583458	HepG2	liver:	n/a
5	chr5:145562699-145562749	GM12878	blood:	n/a
6	chr5:145562428-145562478	HEK293	kidney:	embryo
7	chr5:145587156-145587206	GM12892	blood:	n/a
8	chr5:145562268-145562318	ProgFib	skin:	n/a
9	chr5:145562699-145562749	NT2-D1	testis:	n/a
10	chr5:145579573-145579623	PANC-1	pancreas:	n/a
11	chr5:145562478-145562528	BJ	skin:	n/a
12	chr5:145562530-145562580	SK-N-MC	brain:	n/a
13	chr5:145583510-145583560	GM19239	blood:	n/a
14	chr5:145582897-145582947	PFSK-1	brain:	n/a
15	chr5:145583220-145583270	AG10803	skin:	n/a
16	chr5:145562530-145562580	SAEC	small airway:	n/a
17	chr5:145562478-145562528	HEEpiC	esophagus:	n/a
18	chr5:145583510-145583560	ECC-1	luminal epithelium:	n/a
19	chr5:145583510-145583560	SK-N-MC	brain:	n/a
20	chr5:145579573-145579623	SAEC	small airway:	n/a
21	chr5:145562370-145562420	HRCEpiC	kidney:	n/a
22	chr5:145562530-145562580	HEK293	kidney:	embryo
23	chr5:145583122-145583172	T-47D	breast:	n/a
24	chr5:145562699-145562749	H1-hESC	embryonic stem cell:	embryo
25	chr5:145583510-145583560	HCF	heart:	n/a
26	chr5:145562498-145562548	GM06990	blood:	n/a
27	chr5:145562434-145562484	ProgFib	skin:	n/a
28	chr5:145587156-145587206	HEK293	kidney:	embryo
29	chr5:145583122-145583172	CMK	blood:	n/a
30	chr5:145562434-145562484	PrEC	prostate:	n/a
31	chr5:145583510-145583560	GM12878	blood:	n/a
32	chr5:145583408-145583458	Caco-2	colon:	n/a
33	chr5:145562010-145562060	RPTEC	kidney:	n/a
34	chr5:145562498-145562548	NB4	blood:	n/a
35	chr5:145562010-145562060	LNCaP	prostate:	n/a
36	chr5:145583510-145583560	BJ	skin:	n/a
37	chr5:145562370-145562420	AG09319	gingival:	n/a
38	chr5:145579573-145579623	PrEC	prostate:	n/a
39	chr5:145583671-145583721	GM19239	blood:	n/a
40	chr5:145562268-145562318	A549	lung:	n/a
41	chr5:145579573-145579623	Hepatocyte	liver:	n/a
42	chr5:145562478-145562528	HPAEpiC	pulmonary alveolar:	n/a
43	chr5:145579573-145579623	AG09309	skin:	n/a
44	chr5:145562426-145562476	GM12878	blood:	n/a
45	chr5:145562699-145562749	K562	blood:	n/a
46	chr5:145562530-145562580	ProgFib	skin:	n/a
47	chr5:145562478-145562528	CMK	blood:	n/a
48	chr5:145562498-145562548	GM12892	blood:	n/a
49	chr5:145562268-145562318	ovcar-3	ovarian:	n/a
50	chr5:145583671-145583721	HNPCEpiC	eye:	n/a

(count:143 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:21566818..21567426-chr5:145582956..145583681,2	Hela-S3	cervix:
2	chr5:145625869..145628007-chr5:145631607..145633546,2	K562	blood:
3	chr5:145559594..145562426-chr5:145581996..145584629,4	MCF-7	breast:
4	chr5:145540004..145542261-chr5:145544154..145547069,3	K562	blood:
5	chr5:145567639..145569805-chr5:145575511..145577560,2	K562	blood:
6	chr5:145560893..145564215-chr5:145581108..145584712,3	MCF-7	breast:
7	chr5:145559635..145562318-chr5:145826820..145828574,2	K562	blood:
8	chr5:145527345..145529730-chr5:145535665..145537992,2	K562	blood:
9	chr5:145505030..145506633-chr5:145530746..145532367,2	K562	blood:
10	chr5:145572815..145574844-chr5:145581560..145583994,2	K562	blood:
11	chr5:145615949..145618767-chr5:145647272..145650054,2	K562	blood:
12	chr5:145595165..145597126-chr5:145598903..145601685,2	K562	blood:
13	chr5:145560445..145562806-chr5:145569318..145570972,2	K562	blood:
14	chr5:145522049..145523762-chr5:145525453..145528304,2	K562	blood:
15	chr5:145574849..145577179-chr5:145580631..145584076,3	K562	blood:
16	chr5:145560704..145564062-chr5:145572842..145575538,3	K562	blood:
17	chr5:145558240..145560527-chr5:145600863..145603054,2	K562	blood:
18	chr5:145653852..145655797-chr5:145658433..145661229,2	K562	blood:
19	chr5:145591065..145593762-chr5:145596165..145598951,2	K562	blood:
20	chr5:145670855..145671711-chr5:145804344..145805276,3	MCF-7	breast:
21	chr5:145534761..145536819-chr5:145538126..145540508,2	K562	blood:
22	chr5:145596366..145598063-chr5:145648958..145650482,2	K562	blood:
23	chr5:145647167..145649031-chr5:145653206..145654859,2	K562	blood:
24	chr5:145577261..145580172-chr5:145580674..145584056,4	K562	blood:
25	chr5:145551306..145553774-chr5:145557195..145559625,2	K562	blood:
26	chr5:145560642..145563806-chr5:145566350..145569083,3	MCF-7	breast:
27	chr5:145562172..145563864-chr5:145572601..145575538,2	K562	blood:
28	chr5:145559745..145561849-chr5:145588233..145589890,2	K562	blood:
29	chr5:145542821..145544989-chr5:145547735..145549727,2	K562	blood:
30	chr5:145669514..145673620-chr5:145676899..145679881,3	K562	blood:
31	chr5:145670730..145671380-chr5:145770136..145770700,3	MCF-7	breast:
32	chr5:145549719..145552981-chr5:145557063..145560291,4	MCF-7	breast:
33	chr5:145536432..145538417-chr5:145545755..145548340,2	K562	blood:
34	chr5:145519995..145522267-chr5:145522781..145524480,2	K562	blood:
35	chr5:145596117..145598265-chr5:145605012..145606909,2	K562	blood:
36	chr5:145601632..145604303-chr5:145605562..145607960,2	MCF-7	breast:
37	chr5:145507255..145510275-chr5:145511720..145513708,3	K562	blood:
38	chr5:145573844..145575489-chr5:145577748..145580152,2	K562	blood:
39	chr5:145643342..145645989-chr5:145650081..145652639,2	K562	blood:
40	chr5:145543670..145545508-chr5:145560602..145562850,2	MCF-7	breast:
41	chr5:145570785..145572816-chr5:145582211..145584363,2	MCF-7	breast:
42	chr5:145524466..145529142-chr5:145530854..145534464,5	K562	blood:
43	chr5:145661955..145664023-chr5:145664235..145668387,3	K562	blood:
44	chr5:145558307..145563846-chr5:145580315..145584343,10	K562	blood:
45	chr5:145581405..145584024-chr5:145596123..145597883,2	K562	blood:
46	chr5:145587290..145589374-chr5:145604476..145606867,3	K562	blood:
47	chr5:145574849..145576766-chr5:145582539..145584532,3	K562	blood:
48	chr5:145417177..145419774-chr5:145514688..145516559,2	K562	blood:
49	chr5:145595165..145597126-chr5:145598903..145601685,2	K562	blood:
50	chr5:145555891..145557716-chr5:145560403..145562060,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3RF2-5	chr5:145518334-145518571	NONHSAT104396
2	lnc-SH3RF2-4	chr5:145517708-145517944	NONHSAT104395
3	lnc-SH3RF2-4	chr5:145517318-145517401	NONHSAT104395

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	RBM27	hsa-miR-92a-3p	chr5:145668659-145668665
2	RBM27	hsa-miR-25-3p	chr5:145668659-145668665
3	RBM27	hsa-miR-186-5p	chr5:145666629-145666653

Variant related genes	Relation type
LARS	TF binding region
RBM27	TF binding region
RNU7-180P	TF binding region
ENSG00000239602	TF binding region
ENSG00000239317	TF binding region
LARS	CpG island
RBM27	CpG island
RNU7-180P	CpG island
ENSG00000239602	CpG island
ENSG00000239317	CpG island
ENSG00000196562	chromatin interactions
ENSG00000133706	chromatin interactions
ENSG00000113649	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000104529	chromatin interactions
ENSG00000183207	chromatin interactions
ENSG00000232070	chromatin interactions
ENSG00000091009	chromatin interactions
ENSG00000165804	chromatin interactions
ENSG00000179886	chromatin interactions
ENSG00000104812	chromatin interactions

Extended variants
information (count: 6843 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:6843 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114318304	chr5:145503979-145503980	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559289807	chr5:145504019-145504020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201164284	chr5:145504024-145504025	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536823908	chr5:145504029-145504030	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs557137735	chr5:145504039-145504040	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs577025663	chr5:145504077-145504078	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79021333	chr5:145504152-145504153	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552682051	chr5:145504251-145504252	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572907800	chr5:145504263-145504264	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs74555355	chr5:145504324-145504325	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561737723	chr5:145504344-145504345	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17492851	chr5:145504347-145504348	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs369778970	chr5:145504362-145504363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543993454	chr5:145504368-145504369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs563910243	chr5:145504373-145504374	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532691647	chr5:145504411-145504412	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs17492893	chr5:145504426-145504427	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs552317813	chr5:145504484-145504485	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs527368251	chr5:145504487-145504488	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548200992	chr5:145504493-145504494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs552264270	chr5:145504552-145504553	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372553500	chr5:145504565-145504566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs537014604	chr5:145504566-145504567	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537161379	chr5:145504579-145504580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370753908	chr5:145504580-145504581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71274378	chr5:145504591-145504592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs73315741	chr5:145504595-145504596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187871206	chr5:145504596-145504597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559146456	chr5:145504604-145504605	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528128763	chr5:145504606-145504607	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553259482	chr5:145504623-145504624	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs17492950	chr5:145504688-145504689	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs535404874	chr5:145504815-145504816	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555410654	chr5:145504832-145504833	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575363411	chr5:145504833-145504834	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs192205825	chr5:145504944-145504945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183316604	chr5:145504957-145504958	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531358729	chr5:145504968-145504969	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76652555	chr5:145504972-145504973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114847377	chr5:145505002-145505003	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568809222	chr5:145505057-145505058	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559592026	chr5:145505074-145505075	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55812375	chr5:145505085-145505086	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs187908912	chr5:145505195-145505196	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146193941	chr5:145505203-145505204	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530899567	chr5:145505207-145505208	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192224373	chr5:145505260-145505261	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150134206	chr5:145505269-145505270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs143440337	chr5:145505270-145505271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs67815855	chr5:145505271-145505272	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4813 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145481200-145560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:145485000-145505400	Weak transcription	Gastric	stomach
3	chr5:145490800-145535200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:145491000-145509800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:145491000-145510600	Strong transcription	HSMM	muscle
6	chr5:145491000-145517600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:145491000-145518800	Strong transcription	Dnd41	blood
8	chr5:145491000-145542200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:145491000-145551600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:145491000-145553800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:145491000-145560200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:145491200-145505200	Weak transcription	Ovary	ovary
13	chr5:145491200-145509800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr5:145491200-145518000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:145491200-145534000	Strong transcription	Osteobl	bone
16	chr5:145491200-145552600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:145491200-145560200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:145491200-145560200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:145491200-145560800	Weak transcription	Stomach Mucosa	stomach
20	chr5:145491400-145509400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:145491400-145510000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:145491400-145512400	Weak transcription	Right Ventricle	heart
23	chr5:145491400-145515400	Strong transcription	Liver	Liver
24	chr5:145491400-145516200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:145491400-145516600	Strong transcription	NH-A	brain
26	chr5:145491400-145560000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:145491400-145560400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:145491600-145505600	Weak transcription	Small Intestine	intestine
29	chr5:145491600-145509800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:145491600-145557000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:145491600-145559800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:145491800-145506400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:145491800-145515400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:145491800-145524800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:145491800-145541400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:145491800-145546400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:145492000-145505200	Weak transcription	Lung	lung
38	chr5:145492000-145506200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:145492000-145552200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:145492200-145510000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr5:145492200-145560200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:145492800-145505800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:145492800-145505800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:145492800-145506200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:145493000-145505800	Weak transcription	Spleen	Spleen
46	chr5:145494000-145520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:145494600-145505400	Weak transcription	Pancreas	Pancrea
48	chr5:145494600-145511200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:145494600-145511200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:145494600-145513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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