Variant report

Variant	nsv1044949
Chromosome Location	chr13:53071140-53289426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3311)
CpG islands
(count:2382)
Chromatin interactive
region (count:99)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3311 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53191399-53191692	K562	blood:	n/a	n/a
2	ARID3A	chr13:53226074-53226510	K562	blood:	n/a	n/a
3	ARID3A	chr13:53227358-53227742	K562	blood:	n/a	n/a
4	ARID3A	chr13:53281748-53281815	K562	blood:	n/a	n/a
5	ARID3A	chr13:53088187-53088371	K562	blood:	n/a	n/a
6	ARID3A	chr13:53191307-53191780	HepG2	liver:	n/a	n/a
7	ARID3A	chr13:53144165-53144251	HepG2	liver:	n/a	n/a
8	ARID3A	chr13:53174512-53174657	HepG2	liver:	n/a	n/a
9	ARID3A	chr13:53183538-53183768	HepG2	liver:	n/a	n/a
10	ARID3A	chr13:53225820-53227820	HepG2	liver:	n/a	n/a
11	ATF1	chr13:53088164-53088389	K562	blood:	n/a	n/a
12	ATF2	chr13:53191356-53191832	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr13:53226134-53226714	GM12878	blood:	n/a	n/a
14	ATF2	chr13:53234609-53235197	GM12878	blood:	n/a	n/a
15	ATF2	chr13:53225975-53227221	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr13:53191240-53191855	GM12878	blood:	n/a	n/a
17	ATF2	chr13:53226050-53227280	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr13:53225985-53227257	GM12878	blood:	n/a	n/a
19	ATF2	chr13:53226814-53227262	GM12878	blood:	n/a	n/a
20	ATF2	chr13:53191283-53191848	GM12878	blood:	n/a	n/a
21	ATF2	chr13:53269894-53270461	GM12878	blood:	n/a	n/a
22	ATF2	chr13:53191325-53191749	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr13:53269953-53270338	GM12878	blood:	n/a	n/a
24	ATF3	chr13:53191222-53191681	K562	blood:	n/a	n/a
25	ATF3	chr13:53191426-53191696	A549	lung:	n/a	n/a
26	ATF3	chr13:53190031-53190175	K562	blood:	n/a	n/a
27	ATF3	chr13:53190868-53191269	A549	lung:	n/a	n/a
28	ATF3	chr13:53191126-53191583	A549	lung:	n/a	n/a
29	ATF3	chr13:53226741-53227206	A549	lung:	n/a	n/a
30	ATF3	chr13:53088183-53088428	K562	blood:	n/a	n/a
31	BACH1	chr13:53226351-53227106	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr13:53191461-53191869	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr13:53088181-53088381	K562	blood:	n/a	n/a
34	BACH1	chr13:53174341-53174515	H1-hESC	embryonic stem cell:	n/a	n/a
35	BATF	chr13:53191419-53191784	GM12878	blood:	n/a	n/a
36	BATF	chr13:53226784-53227143	GM12878	blood:	n/a	n/a
37	BATF	chr13:53234688-53235063	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
38	BATF	chr13:53197949-53198190	GM12878	blood:	n/a	n/a
39	BATF	chr13:53269992-53270317	GM12878	blood:	n/a	n/a
40	BATF	chr13:53145320-53145576	GM12878	blood:	n/a	n/a
41	BATF	chr13:53168047-53168204	GM12878	blood:	n/a	chr13:53168148-53168159
42	BATF	chr13:53205194-53205499	GM12878	blood:	n/a	n/a
43	BATF	chr13:53072199-53072653	GM12878	blood:	n/a	n/a
44	BATF	chr13:53269961-53270417	GM12878	blood:	n/a	n/a
45	BATF	chr13:53144126-53144351	GM12878	blood:	n/a	n/a
46	BATF	chr13:53234657-53235121	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
47	BATF	chr13:53072412-53072681	GM12878	blood:	n/a	n/a
48	BATF	chr13:53157172-53157376	GM12878	blood:	n/a	n/a
49	BATF	chr13:53107072-53107288	GM12878	blood:	n/a	chr13:53107179-53107190
50	BCL11A	chr13:53072127-53072440	GM12878	blood:	n/a	n/a

(count:2382 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53226144-53226194	GM12878	blood:	n/a
2	chr13:53226751-53226801	ECC-1	luminal epithelium:	n/a
3	chr13:53226144-53226194	NB4	blood:	n/a
4	chr13:53226144-53226194	GM12878	blood:	n/a
5	chr13:53226751-53226801	ECC-1	luminal epithelium:	n/a
6	chr13:53226144-53226194	NB4	blood:	n/a
7	chr13:53176723-53176773	NH-A	brain:	n/a
8	chr13:53226396-53226446	Hela-S3	cervix:	n/a
9	chr13:53226823-53226873	GM06990	blood:	n/a
10	chr13:53191471-53191521	LNCaP	prostate:	n/a
11	chr13:53191909-53191959	Hela-S3	cervix:	n/a
12	chr13:53191547-53191597	ECC-1	luminal epithelium:	n/a
13	chr13:53191643-53191693	CMK	blood:	n/a
14	chr13:53262275-53262325	HNPCEpiC	eye:	n/a
15	chr13:53191491-53191541	NHBE	bronchial:	n/a
16	chr13:53191046-53191096	CMK	blood:	n/a
17	chr13:53173898-53173948	HCM	heart:	n/a
18	chr13:53191643-53191693	HepG2	liver:	n/a
19	chr13:53226667-53226717	GM12891	blood:	n/a
20	chr13:53191643-53191693	HCM	heart:	n/a
21	chr13:53191541-53191591	HepG2	liver:	n/a
22	chr13:53262275-53262325	GM06990	blood:	n/a
23	chr13:53174588-53174638	K562	blood:	n/a
24	chr13:53191643-53191693	Hepatocyte	liver:	n/a
25	chr13:53226667-53226717	HRE	kidney:	n/a
26	chr13:53191763-53191813	HEEpiC	esophagus:	n/a
27	chr13:53229659-53229709	U87	brain:	n/a
28	chr13:53226396-53226446	AG04449	skin:	fetal
29	chr13:53226751-53226801	LNCaP	prostate:	n/a
30	chr13:53191491-53191541	SKMC	muscle:	n/a
31	chr13:53191387-53191437	HEK293	kidney:	embryo
32	chr13:53191308-53191358	AG04450	lung:	fetal
33	chr13:53226935-53226985	AG10803	skin:	n/a
34	chr13:53174042-53174092	PANC-1	pancreas:	n/a
35	chr13:53287193-53287243	GM06990	blood:	n/a
36	chr13:53174319-53174369	MCF-7	breast:	n/a
37	chr13:53226823-53226873	HCPEpiC	choroid plexus:	n/a
38	chr13:53223253-53223303	HepG2	liver:	n/a
39	chr13:53229659-53229709	HEK293	kidney:	embryo
40	chr13:53191537-53191587	HRCEpiC	kidney:	n/a
41	chr13:53226399-53226449	SKMC	muscle:	n/a
42	chr13:53176723-53176773	K562	blood:	n/a
43	chr13:53226810-53226860	MCF10A-Er-Src	breast:	n/a
44	chr13:53191537-53191587	GM19239	blood:	n/a
45	chr13:53191643-53191693	HRE	kidney:	n/a
46	chr13:53262275-53262325	SK-N-SH_RA	brain:	n/a
47	chr13:53226667-53226717	U87	brain:	n/a
48	chr13:53191643-53191693	HRPEpiC	eye:	n/a
49	chr13:53226743-53226793	HL-60	blood:	n/a
50	chr13:53277872-53277922	HRE	kidney:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:53253633..53256352-chr13:53264459..53267100,2	K562	blood:
2	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
3	chr13:53238687..53240830-chr13:53246472..53248084,2	K562	blood:
4	chr13:53197627..53200441-chr13:53224440..53227074,2	K562	blood:
5	chr13:53023875..53025638-chr13:53174219..53175747,2	MCF-7	breast:
6	chr13:53258383..53260639-chr13:53264833..53266950,2	MCF-7	breast:
7	chr13:53226033..53226915-chr3:101568139..101568761,2	Hela-S3	cervix:
8	chr13:53215652..53217319-chr13:53217527..53219580,2	K562	blood:
9	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
10	chr13:53201490..53204133-chr13:53204662..53206494,2	K562	blood:
11	chr13:53212411..53216541-chr13:53222004..53227678,9	MCF-7	breast:
12	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
13	chr13:52768173..52768983-chr13:53191222..53192131,3	NB4	blood:
14	chr13:53031068..53033072-chr13:53251817..53253830,2	K562	blood:
15	chr13:53227001..53228645-chr13:53232234..53234717,3	K562	blood:
16	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
17	chr13:53189836..53192500-chr13:53230172..53233036,2	MCF-7	breast:
18	chr13:53281284..53282235-chr13:53382910..53384516,5	MCF-7	breast:
19	chr13:53190930..53191973-chr13:53226605..53227465,3	MCF-7	breast:
20	chr13:53169737..53172275-chr13:53234901..53237385,2	MCF-7	breast:
21	chr13:53239189..53240278-chr13:53420342..53420888,4	MCF-7	breast:
22	chr13:53226272..53226795-chr9:130213363..130214026,2	Hela-S3	cervix:
23	chr13:53199936..53201723-chr13:53223791..53226214,2	K562	blood:
24	chr13:53202759..53205661-chr13:53225651..53228135,2	MCF-7	breast:
25	chr13:53028617..53031103-chr13:53172840..53175725,3	MCF-7	breast:
26	chr13:53219090..53221070-chr13:53225037..53228052,3	MCF-7	breast:
27	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
28	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
29	chr13:53225756..53229849-chr13:53255678..53259863,4	K562	blood:
30	chr13:53239392..53240181-chr13:53383142..53383847,3	K562	blood:
31	chr10:131908141..131909040-chr13:53174069..53174686,2	Hela-S3	cervix:
32	chr13:53225894..53226531-chr17:37356466..37357068,2	Hela-S3	cervix:
33	chr13:53226588..53227229-chr19:3539028..3539772,2	Hela-S3	cervix:
34	chr13:53226412..53226945-chr3:49044645..49045264,2	NB4	blood:
35	chr13:53226154..53226654-chr13:75583951..75584452,2	NB4	blood:
36	chr13:53215104..53218356-chr13:53226198..53228845,3	K562	blood:
37	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:
38	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
39	chr13:53183231..53184124-chr13:53542318..53542852,2	MCF-7	breast:
40	chr13:53225429..53228125-chr13:53249748..53252503,2	K562	blood:
41	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
42	chr13:53238687..53240830-chr13:53246472..53248084,2	K562	blood:
43	chr13:53190401..53192261-chr13:53196338..53199090,3	MCF-7	breast:
44	chr12:93771675..93772184-chr13:53174171..53174759,2	NB4	blood:
45	chr13:53239569..53240100-chr13:53542246..53542777,2	MCF-7	breast:
46	chr13:53199936..53201723-chr13:53223791..53226214,2	K562	blood:
47	chr13:53173175..53175683-chr13:53225993..53228450,3	MCF-7	breast:
48	chr13:53270072..53270943-chr2:854831..855664,2	MCF-7	breast:
49	chr13:53213837..53216389-chr13:53220135..53222271,3	MCF-7	breast:
50	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUGT1-2	chr13:53191693-53191840	NONHSAT033997
2	lnc-CKAP2-1	chr13:53073178-53073440	ENSG00000244471.1
3	lnc-SUGT1-2	chr13:53201575-53201710	NONHSAT033997
4	lnc-CKAP2-1	chr13:53073178-53073279	ENSG00000244471.1
5	lnc-SUGT1-2	chr13:53203352-53203490	NONHSAT033997
6	lnc-SUGT1-2	chr13:53196121-53196400	NONHSAT033997
7	lnc-CKAP2-1	chr13:53071697-53071809	ENSG00000244471.1
8	lnc-SUGT1-2	chr13:53211436-53211581	NONHSAT033997
9	lnc-SUGT1-2	chr13:53206555-53206624	NONHSAT033997
10	lnc-LECT1-1	chr13:53268955-53274883	ENSG00000248190
11	lnc-LECT1-1	chr13:53263722-53263958	ENSG00000248190

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPA1L2	hsa-miR-1	chr13:53217806-53217827
2	SUGT1	hsa-miR-34a-5p	chr13:53232568-53232590

Variant related genes	Relation type
MRPS31P4	TF binding region
TPTE2P3	TF binding region
HNRNPA1L2	TF binding region
SUGT1	TF binding region
MRPS31P4	CpG island
TPTE2P3	CpG island
HNRNPA1L2	CpG island
SUGT1	CpG island
ENSG00000139675	chromatin interactions
ENSG00000148356	chromatin interactions
ENSG00000136099	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000144802	chromatin interactions
ENSG00000250299	chromatin interactions
ENSG00000115875	chromatin interactions
ENSG00000136100	chromatin interactions
ENSG00000152147	chromatin interactions
ENSG00000197958	chromatin interactions
ENSG00000183397	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000243406	chromatin interactions
ENSG00000178252	chromatin interactions
ENSG00000108298	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000211579	chromatin interactions
ENSG00000165416	chromatin interactions
EZH2	miRNA target sites
STXBP1	miRNA target sites

Extended variants
information (count: 5101 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:5101 , 50 per page) page: 1 2 3 4 5 6 7 ... 103

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563067229	chr13:53071721-53071722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs532045118	chr13:53071724-53071725	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191382309	chr13:53071731-53071732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs547640871	chr13:53071738-53071739	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs369004900	chr13:53071739-53071740	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs4884622	chr13:53071743-53071744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs559256060	chr13:53071767-53071768	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs528416681	chr13:53071773-53071774	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs146268419	chr13:53071782-53071783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs370465257	chr13:53071784-53071785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs558990344	chr13:53071800-53071801	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs550760111	chr13:53072019-53072020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74087318	chr13:53072109-53072110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566120050	chr13:53072122-53072123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567466069	chr13:53072133-53072134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539872150	chr13:53072158-53072159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546722240	chr13:53072206-53072207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566851472	chr13:53072223-53072224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373433495	chr13:53072261-53072262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377646688	chr13:53072268-53072269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535809936	chr13:53072274-53072275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79312495	chr13:53072281-53072282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575505722	chr13:53072351-53072352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538066040	chr13:53072352-53072353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557890429	chr13:53072546-53072547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368577347	chr13:53072582-53072583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545873707	chr13:53072703-53072704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559119678	chr13:53072709-53072710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572774345	chr13:53072869-53072870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181891576	chr13:53072913-53072914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377170236	chr13:53072928-53072929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561976418	chr13:53072930-53072931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74087321	chr13:53072995-53072996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148579626	chr13:53073001-53073002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73486186	chr13:53073014-53073015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533308230	chr13:53073031-53073032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112234332	chr13:53073049-53073050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555132284	chr13:53073083-53073084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566782465	chr13:53073191-53073192	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs574901388	chr13:53073237-53073238	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367809188	chr13:53073266-53073267	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs548932209	chr13:53073287-53073288	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs569219712	chr13:53073289-53073290	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs4884627	chr13:53073306-53073307	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs4884628	chr13:53073311-53073312	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs185995930	chr13:53073345-53073346	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs557976755	chr13:53073350-53073351	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191163845	chr13:53073360-53073361	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369966767	chr13:53073411-53073412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs553053154	chr13:53073413-53073414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3596 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53072000-53073400	Enhancers	Dnd41	blood
2	chr13:53083000-53083400	Enhancers	HSMM	muscle
3	chr13:53083200-53083400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:53083200-53083800	Enhancers	HSMMtube	muscle
5	chr13:53083400-53084400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:53083400-53084800	Weak transcription	HSMM	muscle
7	chr13:53083800-53084200	Weak transcription	HSMMtube	muscle
8	chr13:53084200-53084600	Enhancers	HSMMtube	muscle
9	chr13:53084400-53085000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:53084400-53085000	Enhancers	Fetal Muscle Trunk	muscle
11	chr13:53084400-53085000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:53084800-53085200	Enhancers	Fetal Muscle Leg	muscle
13	chr13:53084800-53085400	Enhancers	HSMM	muscle
14	chr13:53085000-53088200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:53088200-53088600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:53144200-53144400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:53144200-53144600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr13:53144400-53144600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:53144400-53144600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:53144400-53144600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr13:53144400-53144600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:53144400-53144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:53144400-53144600	Enhancers	Fetal Muscle Trunk	muscle
24	chr13:53150000-53150400	Enhancers	HUVEC	blood vessel
25	chr13:53153600-53154400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:53160000-53161000	Enhancers	Fetal Heart	heart
27	chr13:53161000-53173000	Weak transcription	Fetal Heart	heart
28	chr13:53162000-53162400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr13:53162000-53162400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr13:53167600-53171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:53168000-53168400	Enhancers	Osteobl	bone
32	chr13:53168400-53168800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:53168400-53169000	Active TSS	HepG2	liver
34	chr13:53168400-53173000	Weak transcription	Osteobl	bone
35	chr13:53168800-53169000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr13:53168800-53172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:53169000-53171400	Weak transcription	HepG2	liver
38	chr13:53169000-53174000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:53169400-53169600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:53169400-53173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:53169600-53169800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr13:53169800-53171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:53170200-53172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:53170800-53172400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr13:53171000-53171400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:53171200-53173800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:53171400-53172000	Enhancers	HepG2	liver
48	chr13:53171400-53173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:53171400-53174200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr13:53172000-53173200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links