Variant report

Variant	nsv508352
Chromosome Location	chr5:43237830-43391062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2576)
CpG islands
(count:1224)
Chromatin interactive
region (count:187)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:2576 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43352266-43352622	K562	blood:	n/a	n/a
2	ARID3A	chr5:43313329-43314129	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:43306107-43306431	K562	blood:	n/a	n/a
4	ARID3A	chr5:43284565-43284570	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:43313505-43313934	K562	blood:	n/a	n/a
6	ARID3A	chr5:43389694-43390170	K562	blood:	n/a	n/a
7	ARID3A	chr5:43315535-43315594	HepG2	liver:	n/a	n/a
8	ARID3A	chr5:43321028-43321242	K562	blood:	n/a	n/a
9	ARID3A	chr5:43389650-43390209	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:43281908-43282548	K562	blood:	n/a	n/a
11	ARID3A	chr5:43306130-43306421	HepG2	liver:	n/a	n/a
12	ATF1	chr5:43370301-43370580	K562	blood:	n/a	n/a
13	ATF1	chr5:43363455-43363522	K562	blood:	n/a	n/a
14	ATF1	chr5:43321036-43321339	K562	blood:	n/a	n/a
15	ATF1	chr5:43389812-43390216	K562	blood:	n/a	n/a
16	ATF1	chr5:43268352-43268620	K562	blood:	n/a	n/a
17	ATF1	chr5:43368469-43368712	K562	blood:	n/a	n/a
18	ATF1	chr5:43282066-43282688	K562	blood:	n/a	n/a
19	ATF1	chr5:43352413-43352609	K562	blood:	n/a	n/a
20	ATF1	chr5:43309860-43310055	K562	blood:	n/a	n/a
21	ATF1	chr5:43313461-43314084	K562	blood:	n/a	chr5:43313775-43313789
22	ATF1	chr5:43301707-43302089	K562	blood:	n/a	n/a
23	ATF2	chr5:43313146-43314252	GM12878	blood:	n/a	chr5:43313775-43313789
24	ATF2	chr5:43268178-43268890	GM12878	blood:	n/a	n/a
25	ATF2	chr5:43281972-43282293	GM12878	blood:	n/a	n/a
26	ATF2	chr5:43268122-43268830	GM12878	blood:	n/a	n/a
27	ATF2	chr5:43304561-43305069	GM12878	blood:	n/a	n/a
28	ATF2	chr5:43244811-43245468	GM12878	blood:	n/a	n/a
29	ATF2	chr5:43389856-43390228	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:43304584-43305038	GM12878	blood:	n/a	n/a
31	ATF2	chr5:43244783-43245582	GM12878	blood:	n/a	n/a
32	ATF2	chr5:43315431-43315709	GM12878	blood:	n/a	n/a
33	ATF2	chr5:43315422-43315796	GM12878	blood:	n/a	n/a
34	ATF2	chr5:43313519-43313919	H1-hESC	embryonic stem cell:	n/a	chr5:43313775-43313789
35	ATF2	chr5:43313517-43314043	GM12878	blood:	n/a	chr5:43313775-43313789
36	ATF3	chr5:43314654-43315201	A549	lung:	n/a	n/a
37	ATF3	chr5:43336384-43336694	K562	blood:	n/a	n/a
38	ATF3	chr5:43314708-43315200	A549	lung:	n/a	n/a
39	ATF3	chr5:43368416-43368635	K562	blood:	n/a	n/a
40	ATF3	chr5:43315330-43315805	A549	lung:	n/a	n/a
41	ATF3	chr5:43336099-43336788	HCT-116	colon:	n/a	n/a
42	BACH1	chr5:43281973-43282286	K562	blood:	n/a	n/a
43	BACH1	chr5:43270974-43271059	K562	blood:	n/a	n/a
44	BACH1	chr5:43308160-43308329	K562	blood:	n/a	n/a
45	BACH1	chr5:43313346-43313373	K562	blood:	n/a	n/a
46	BACH1	chr5:43313146-43313828	H1-hESC	embryonic stem cell:	n/a	n/a
47	BATF	chr5:43315452-43315755	GM12878	blood:	n/a	chr5:43315594-43315605
48	BATF	chr5:43336364-43336691	GM12878	blood:	n/a	chr5:43336565-43336576 chr5:43336548-43336559
49	BATF	chr5:43304671-43304959	GM12878	blood:	n/a	n/a
50	BATF	chr5:43315839-43316130	GM12878	blood:	n/a	n/a

(count:1224 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43302133-43302183	HIPEpiC	eye:	n/a
2	chr5:43313833-43313883	HAEpiC	amniotic membrane:	n/a
3	chr5:43297680-43297730	AG04449	skin:	fetal
4	chr5:43316468-43316518	NHDF-neo	bronchial:	n/a
5	chr5:43302133-43302183	HIPEpiC	eye:	n/a
6	chr5:43313833-43313883	HAEpiC	amniotic membrane:	n/a
7	chr5:43297680-43297730	AG04449	skin:	fetal
8	chr5:43316468-43316518	NHDF-neo	bronchial:	n/a
9	chr5:43313410-43313460	AG09319	gingival:	n/a
10	chr5:43313815-43313865	Jurkat	blood:	n/a
11	chr5:43313634-43313684	SKMC	muscle:	n/a
12	chr5:43313634-43313684	HRCEpiC	kidney:	n/a
13	chr5:43310340-43310390	PANC-1	pancreas:	n/a
14	chr5:43316468-43316518	HCPEpiC	choroid plexus:	n/a
15	chr5:43313725-43313775	HCT-116	colon:	n/a
16	chr5:43280399-43280449	HIPEpiC	eye:	n/a
17	chr5:43313725-43313775	LNCaP	prostate:	n/a
18	chr5:43297680-43297730	HepG2	liver:	n/a
19	chr5:43316468-43316518	BE2_C	brain:	n/a
20	chr5:43313725-43313775	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:43280334-43280384	ovcar-3	ovarian:	n/a
22	chr5:43312201-43312251	GM12892	blood:	n/a
23	chr5:43313640-43313690	ProgFib	skin:	n/a
24	chr5:43313634-43313684	AG04450	lung:	fetal
25	chr5:43289541-43289591	HCF	heart:	n/a
26	chr5:43313951-43314001	SK-N-SH_RA	brain:	n/a
27	chr5:43302133-43302183	SK-N-SH_RA	brain:	n/a
28	chr5:43313951-43314001	AG09309	skin:	n/a
29	chr5:43302133-43302183	T-47D	breast:	n/a
30	chr5:43316468-43316518	A549	lung:	n/a
31	chr5:43280399-43280449	AoSMC	blood vessel:	n/a
32	chr5:43280399-43280449	AG10803	skin:	n/a
33	chr5:43313833-43313883	HCPEpiC	choroid plexus:	n/a
34	chr5:43313384-43313434	K562	blood:	n/a
35	chr5:43289541-43289591	NH-A	brain:	n/a
36	chr5:43297680-43297730	NHBE	bronchial:	n/a
37	chr5:43313951-43314001	Hela-S3	cervix:	n/a
38	chr5:43280252-43280302	A549	lung:	n/a
39	chr5:43313951-43314001	H1-hESC	embryonic stem cell:	embryo
40	chr5:43313656-43313706	HMEC	breast:	n/a
41	chr5:43280334-43280384	SK-N-SH	brain:	n/a
42	chr5:43302133-43302183	PFSK-1	brain:	n/a
43	chr5:43297680-43297730	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:43313640-43313690	PANC-1	pancreas:	n/a
45	chr5:43313644-43313694	Jurkat	blood:	n/a
46	chr5:43289541-43289591	SAEC	small airway:	n/a
47	chr5:43313833-43313883	ProgFib	skin:	n/a
48	chr5:43313951-43314001	HCM	heart:	n/a
49	chr5:43280399-43280449	Jurkat	blood:	n/a
50	chr5:43297680-43297730	HCM	heart:	n/a

(count:187 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:43281291..43285706-chr5:43286078..43291323,6	K562	blood:
2	chr5:43309580..43311517-chr5:43483460..43485441,3	K562	blood:
3	chr5:43244137..43245817-chr5:43282614..43284616,2	K562	blood:
4	chr5:43305568..43306509-chr5:43389549..43390569,3	K562	blood:
5	chr5:43311951..43313606-chr5:43388549..43390888,2	K562	blood:
6	chr5:43381240..43383719-chr5:43393017..43394767,2	K562	blood:
7	chr5:43283692..43285986-chr5:43312626..43314286,2	K562	blood:
8	chr5:43305482..43308307-chr5:43384665..43387150,2	MCF-7	breast:
9	chr5:43305568..43306509-chr5:43389549..43390569,3	K562	blood:
10	chr5:43284931..43287832-chr5:43292804..43295687,2	MCF-7	breast:
11	chr5:43310462..43313861-chr5:43318500..43321089,4	K562	blood:
12	chr5:43239013..43240653-chr5:43243952..43245634,2	K562	blood:
13	chr5:43244137..43245817-chr5:43282614..43284616,2	K562	blood:
14	chr5:42912188..42912778-chr5:43389546..43390532,2	MCF-7	breast:
15	chr5:43068783..43070775-chr5:43235999..43238082,2	K562	blood:
16	chr5:43277970..43279985-chr5:43281454..43283033,2	K562	blood:
17	chr5:43313326..43314007-chr5:90676210..90676872,2	Hela-S3	cervix:
18	chr5:43244010..43245897-chr5:43482270..43484298,3	K562	blood:
19	chr5:43305815..43306736-chr5:43389374..43390635,4	MCF-7	breast:
20	chr5:43299389..43301701-chr5:43312894..43314825,2	K562	blood:
21	chr5:43272071..43275298-chr5:43277638..43280213,3	K562	blood:
22	chr5:43352697..43356285-chr5:43368873..43371600,3	K562	blood:
23	chr5:43070295..43071835-chr5:43373758..43376387,2	MCF-7	breast:
24	chr5:43230831..43233425-chr5:43313778..43315443,2	MCF-7	breast:
25	chr5:43119678..43121800-chr5:43289827..43291722,2	K562	blood:
26	chr5:43295905..43297983-chr5:43307719..43310678,2	K562	blood:
27	chr5:43250825..43252348-chr5:43274259..43276487,2	MCF-7	breast:
28	chr5:43288467..43290159-chr5:43299881..43301853,2	K562	blood:
29	chr5:43276038..43279820-chr5:43312022..43314782,3	K562	blood:
30	chr5:43280478..43282022-chr5:43282133..43284578,2	MCF-7	breast:
31	chr5:43238537..43240317-chr5:43243004..43245569,2	MCF-7	breast:
32	chr5:43312956..43314498-chr5:43314629..43316286,2	MCF-7	breast:
33	chr5:43281257..43283520-chr5:43288770..43290415,2	MCF-7	breast:
34	chr5:43312007..43314075-chr5:43348930..43352517,3	K562	blood:
35	chr5:43231339..43232689-chr5:43389498..43390405,6	MCF-7	breast:
36	chr5:43119704..43122543-chr5:43311544..43313949,2	K562	blood:
37	chr5:42909069..42910039-chr5:43389624..43390382,2	MCF-7	breast:
38	chr5:43119802..43122333-chr5:43244382..43246743,2	MCF-7	breast:
39	chr5:43285022..43287763-chr5:43388452..43389966,2	K562	blood:
40	chr5:43105515..43106476-chr5:43389479..43390577,14	MCF-7	breast:
41	chr5:43312211..43314783-chr5:43395042..43398709,5	MCF-7	breast:
42	chr5:43065772..43068006-chr5:43383021..43385941,2	MCF-7	breast:
43	chr5:43114893..43116613-chr5:43266904..43268990,2	K562	blood:
44	chr5:43286983..43288744-chr5:43291161..43294149,2	K562	blood:
45	chr5:43119482..43123443-chr5:43388047..43390773,3	MCF-7	breast:
46	chr5:43302405..43303937-chr5:43306686..43309193,2	K562	blood:
47	chr5:43353310..43356039-chr5:43483039..43485689,2	K562	blood:
48	chr5:43238992..43241907-chr5:43256883..43259257,2	K562	blood:
49	chr5:43273394..43275748-chr5:43280476..43283890,4	MCF-7	breast:
50	chr5:43368436..43370537-chr5:43372560..43374154,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114947.1.1-5	chr5:43348431-43348774	NONHSAT101309
2	lnc-AC114947.1.1-1	chr5:43287703-43289827	ENSG00000261604.1
3	lnc-AC114947.1.1-5	chr5:43347332-43347440	NONHSAT101308
4	lnc-CCL28-1	chr5:43357143-43357774	XLOC_004806
5	lnc-AC114947.1.1-5	chr5:43336266-43336347	NONHSAT101308
6	lnc-CCL28-1	chr5:43363158-43363282	XLOC_004806
7	lnc-AC114947.1.1-3	chr5:43245184-43245432	NONHSAT101299
8	lnc-AC114947.1.1-3	chr5:43240362-43240492	NONHSAT101299
9	lnc-AC114947.1.1-1	chr5:43290570-43290941	ENSG00000261604.1
10	lnc-HMGCS1-1	chr5:43287801-43289456	NONHSAT101304
11	lnc-AC114947.1.1-1	chr5:43289497-43289767	ENSG00000261604.1
12	lnc-AC114947.1.1-5	chr5:43348578-43348818	NONHSAT101308
13	lnc-AC114947.1.1-3	chr5:43245184-43245464	NONHSAT101300

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HMGCS1	hsa-miR-335-5p	chr5:43289822-43289845
2	HMGCS1	hsa-miR-19b-3p	chr5:43290385-43290411
3	HMGCS1	hsa-miR-18a-5p	chr5:43290382-43290404
4	HMGCS1	hsa-miR-18a-5p	chr5:43290388-43290381
5	HMGCS1	hsa-miR-18a-5p	chr5:43289547-43289571

Variant related genes	Relation type
ENSG00000247763	TF binding region
ENSG00000261604	TF binding region
ENSG00000188850	TF binding region
HMGCS1	TF binding region
ENSG00000247763	CpG island
ENSG00000261604	CpG island
ENSG00000188850	CpG island
HMGCS1	CpG island
ENSG00000224086	chromatin interactions
ENSG00000247763	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000243317	chromatin interactions
ENSG00000126768	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000172244	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000175183	chromatin interactions
ENSG00000261604	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000177721	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000112081	chromatin interactions
ENSG00000113369	chromatin interactions
ENSG00000248240	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000112977	chromatin interactions
ENSG00000151882	chromatin interactions
ENSG00000272324	chromatin interactions
ENSG00000148926	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000264395	chromatin interactions
ENSG00000177738	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000102103	chromatin interactions

Extended variants
information (count: 5432 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:5432 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558238936	chr5:43237841-43237842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575210234	chr5:43237868-43237869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189202767	chr5:43237873-43237874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192285430	chr5:43238031-43238032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183027495	chr5:43238053-43238054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187597400	chr5:43238113-43238114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71608701	chr5:43238141-43238142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552341795	chr5:43238176-43238177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374349870	chr5:43238184-43238185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10051080	chr5:43238213-43238214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191505201	chr5:43238214-43238215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531712596	chr5:43238238-43238239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34831299	chr5:43238293-43238294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs533309715	chr5:43238306-43238307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184031426	chr5:43238372-43238373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534294091	chr5:43238381-43238382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188828787	chr5:43238403-43238404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570349431	chr5:43238415-43238416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539709178	chr5:43238422-43238423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556799447	chr5:43238425-43238426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576690265	chr5:43238429-43238430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536770913	chr5:43238438-43238439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537839794	chr5:43238440-43238441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554279363	chr5:43238454-43238455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192212461	chr5:43238466-43238467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539962676	chr5:43238469-43238470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62368887	chr5:43238500-43238501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555507388	chr5:43238501-43238502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199557453	chr5:43238502-43238503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559884217	chr5:43238540-43238541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576614499	chr5:43238572-43238573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545710474	chr5:43238637-43238638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185492821	chr5:43238658-43238659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531545926	chr5:43238670-43238671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6873090	chr5:43238692-43238693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562065010	chr5:43238710-43238711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527755617	chr5:43238785-43238786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377429526	chr5:43238791-43238792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190828098	chr5:43238826-43238827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182142848	chr5:43238827-43238828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376274243	chr5:43238838-43238839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367559463	chr5:43238896-43238897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185924596	chr5:43238899-43238900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368469981	chr5:43238901-43238902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535778283	chr5:43238927-43238928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370943362	chr5:43238941-43238942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567733414	chr5:43238967-43238968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531340835	chr5:43238987-43238988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533580025	chr5:43239055-43239056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553431901	chr5:43239066-43239067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:43209600-43245200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43231000-43245600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:43232200-43245400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:43232800-43246000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:43233000-43238600	Weak transcription	K562	blood
7	chr5:43233000-43245200	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:43233200-43245400	Weak transcription	Brain Substantia Nigra	brain
9	chr5:43234200-43245400	Weak transcription	Brain Angular Gyrus	brain
10	chr5:43234800-43243600	Weak transcription	GM12878-XiMat	blood
11	chr5:43237200-43245600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:43238600-43239000	Enhancers	K562	blood
13	chr5:43242600-43245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:43243400-43245400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:43243600-43245200	Enhancers	GM12878-XiMat	blood
16	chr5:43243800-43245600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:43245000-43245600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:43245200-43245600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr5:43245200-43245600	Bivalent Enhancer	HepG2	liver
20	chr5:43245200-43245800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:43245200-43246600	Strong transcription	Brain Hippocampus Middle	brain
22	chr5:43245200-43246600	Flanking Active TSS	GM12878-XiMat	blood
23	chr5:43245200-43247600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr5:43245200-43252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:43245400-43245800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:43245400-43245800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr5:43245400-43246000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:43245400-43246000	Strong transcription	Brain Substantia Nigra	brain
29	chr5:43245400-43246400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:43245400-43247200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:43245400-43247200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:43245400-43247400	Strong transcription	Brain Anterior Caudate	brain
33	chr5:43245400-43247600	Strong transcription	Brain Angular Gyrus	brain
34	chr5:43245600-43246000	Enhancers	Spleen	Spleen
35	chr5:43245600-43246800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr5:43245600-43247000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:43245800-43246000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr5:43246000-43246600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:43246000-43252600	Weak transcription	Brain Substantia Nigra	brain
40	chr5:43246400-43248000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:43246600-43247000	Enhancers	GM12878-XiMat	blood
42	chr5:43246600-43248200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:43246600-43281400	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:43246800-43250200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:43247000-43249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:43247200-43251000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:43247200-43255400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:43247400-43256600	Weak transcription	Brain Anterior Caudate	brain
49	chr5:43247600-43259800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:43247600-43261400	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links