Variant report

Variant	nsv1044051
Chromosome Location	chr13:53139132-53287023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3127)
CpG islands
(count:2320)
Chromatin interactive
region (count:99)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3127 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:53225820-53227820	HepG2	liver:	n/a	n/a
2	ARID3A	chr13:53183538-53183768	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:53191399-53191692	K562	blood:	n/a	n/a
4	ARID3A	chr13:53191307-53191780	HepG2	liver:	n/a	n/a
5	ARID3A	chr13:53227358-53227742	K562	blood:	n/a	n/a
6	ARID3A	chr13:53281748-53281815	K562	blood:	n/a	n/a
7	ARID3A	chr13:53174512-53174657	HepG2	liver:	n/a	n/a
8	ARID3A	chr13:53144165-53144251	HepG2	liver:	n/a	n/a
9	ARID3A	chr13:53226074-53226510	K562	blood:	n/a	n/a
10	ATF2	chr13:53226814-53227262	GM12878	blood:	n/a	n/a
11	ATF2	chr13:53191356-53191832	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr13:53225975-53227221	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr13:53225985-53227257	GM12878	blood:	n/a	n/a
14	ATF2	chr13:53226134-53226714	GM12878	blood:	n/a	n/a
15	ATF2	chr13:53269894-53270461	GM12878	blood:	n/a	n/a
16	ATF2	chr13:53191325-53191749	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr13:53191283-53191848	GM12878	blood:	n/a	n/a
18	ATF2	chr13:53234609-53235197	GM12878	blood:	n/a	n/a
19	ATF2	chr13:53226050-53227280	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr13:53191240-53191855	GM12878	blood:	n/a	n/a
21	ATF2	chr13:53269953-53270338	GM12878	blood:	n/a	n/a
22	ATF3	chr13:53190031-53190175	K562	blood:	n/a	n/a
23	ATF3	chr13:53191426-53191696	A549	lung:	n/a	n/a
24	ATF3	chr13:53191126-53191583	A549	lung:	n/a	n/a
25	ATF3	chr13:53190868-53191269	A549	lung:	n/a	n/a
26	ATF3	chr13:53191222-53191681	K562	blood:	n/a	n/a
27	ATF3	chr13:53226741-53227206	A549	lung:	n/a	n/a
28	BACH1	chr13:53226351-53227106	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr13:53191461-53191869	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr13:53174341-53174515	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr13:53234688-53235063	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
32	BATF	chr13:53191419-53191784	GM12878	blood:	n/a	n/a
33	BATF	chr13:53157172-53157376	GM12878	blood:	n/a	n/a
34	BATF	chr13:53226784-53227143	GM12878	blood:	n/a	n/a
35	BATF	chr13:53197949-53198190	GM12878	blood:	n/a	n/a
36	BATF	chr13:53269992-53270317	GM12878	blood:	n/a	n/a
37	BATF	chr13:53269961-53270417	GM12878	blood:	n/a	n/a
38	BATF	chr13:53168047-53168204	GM12878	blood:	n/a	chr13:53168148-53168159
39	BATF	chr13:53145320-53145576	GM12878	blood:	n/a	n/a
40	BATF	chr13:53234657-53235121	GM12878	blood:	n/a	chr13:53234912-53234923 chr13:53234913-53234923
41	BATF	chr13:53144126-53144351	GM12878	blood:	n/a	n/a
42	BATF	chr13:53205194-53205499	GM12878	blood:	n/a	n/a
43	BCL11A	chr13:53198011-53198210	GM12878	blood:	n/a	n/a
44	BCL11A	chr13:53234704-53235134	GM12878	blood:	n/a	chr13:53234911-53234920 chr13:53234912-53234921
45	BCL3	chr13:53258541-53258847	GM12878	blood:	n/a	n/a
46	BCL3	chr13:53269920-53270452	GM12878	blood:	n/a	n/a
47	BCL3	chr13:53226064-53226761	A549	lung:	n/a	chr13:53226369-53226378
48	BCL3	chr13:53226251-53227187	GM12878	blood:	n/a	chr13:53226369-53226378
49	BCL3	chr13:53169503-53169768	GM12878	blood:	n/a	chr13:53169573-53169580
50	BCL3	chr13:53191278-53191797	A549	lung:	n/a	n/a

(count:2320 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:53191650-53191700	NH-A	brain:	n/a
2	chr13:53171401-53171451	BE2_C	brain:	n/a
3	chr13:53191650-53191700	NH-A	brain:	n/a
4	chr13:53171401-53171451	BE2_C	brain:	n/a
5	chr13:53216641-53216691	HCM	heart:	n/a
6	chr13:53173898-53173948	BE2_C	brain:	n/a
7	chr13:53191387-53191437	NHBE	bronchial:	n/a
8	chr13:53173898-53173948	NB4	blood:	n/a
9	chr13:53174818-53174868	Hepatocyte	liver:	n/a
10	chr13:53176723-53176773	CMK	blood:	n/a
11	chr13:53191909-53191959	IMR90	lung:	fetal
12	chr13:53191763-53191813	SAEC	small airway:	n/a
13	chr13:53226396-53226446	IMR90	lung:	fetal
14	chr13:53226650-53226700	RPTEC	kidney:	n/a
15	chr13:53226810-53226860	U87	brain:	n/a
16	chr13:53191650-53191700	HAEpiC	amniotic membrane:	n/a
17	chr13:53216641-53216691	AG09319	gingival:	n/a
18	chr13:53174818-53174868	ECC-1	luminal epithelium:	n/a
19	chr13:53191763-53191813	AG04450	lung:	fetal
20	chr13:53226488-53226538	PANC-1	pancreas:	n/a
21	chr13:53226823-53226873	SK-N-SH	brain:	n/a
22	chr13:53229659-53229709	AG09309	skin:	n/a
23	chr13:53191643-53191693	AoSMC	blood vessel:	n/a
24	chr13:53191387-53191437	HMEC	breast:	n/a
25	chr13:53191537-53191587	HCPEpiC	choroid plexus:	n/a
26	chr13:53191471-53191521	GM06990	blood:	n/a
27	chr13:53262275-53262325	U87	brain:	n/a
28	chr13:53223253-53223303	Jurkat	blood:	n/a
29	chr13:53191387-53191437	RPTEC	kidney:	n/a
30	chr13:53226488-53226538	HMEC	breast:	n/a
31	chr13:53262275-53262325	LNCaP	prostate:	n/a
32	chr13:53226935-53226985	BJ	skin:	n/a
33	chr13:53226650-53226700	U87	brain:	n/a
34	chr13:53191909-53191959	AG04450	lung:	fetal
35	chr13:53226650-53226700	SAEC	small airway:	n/a
36	chr13:53226650-53226700	ovcar-3	ovarian:	n/a
37	chr13:53191643-53191693	NH-A	brain:	n/a
38	chr13:53191547-53191597	ProgFib	skin:	n/a
39	chr13:53191491-53191541	Hepatocyte	liver:	n/a
40	chr13:53226144-53226194	HCM	heart:	n/a
41	chr13:53226810-53226860	HMEC	breast:	n/a
42	chr13:53226688-53226738	HEK293	kidney:	embryo
43	chr13:53262275-53262325	NB4	blood:	n/a
44	chr13:53226144-53226194	LNCaP	prostate:	n/a
45	chr13:53174588-53174638	AG04449	skin:	fetal
46	chr13:53226144-53226194	HIPEpiC	eye:	n/a
47	chr13:53174042-53174092	AG09309	skin:	n/a
48	chr13:53226144-53226194	HUVEC	blood vessel:	n/a
49	chr13:53191643-53191693	K562	blood:	n/a
50	chr13:53226399-53226449	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr13:53212411..53216541-chr13:53222004..53227678,9	MCF-7	breast:
2	chr13:53238687..53240830-chr13:53246472..53248084,2	K562	blood:
3	chr13:53190401..53192261-chr13:53196338..53199090,3	MCF-7	breast:
4	chr13:53226555..53228977-chr13:53419370..53422779,3	MCF-7	breast:
5	chr13:53190995..53193647-chr13:53195298..53197430,2	K562	blood:
6	chr13:53225394..53228460-chr13:53233357..53236526,4	MCF-7	breast:
7	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
8	chr13:53217025..53220829-chr13:53221987..53226213,6	K562	blood:
9	chr13:53183231..53184124-chr13:53542318..53542852,2	MCF-7	breast:
10	chr13:53253633..53256352-chr13:53264459..53267100,2	K562	blood:
11	chr13:53215104..53217509-chr13:53226480..53228845,2	K562	blood:
12	chr13:53222466..53224442-chr5:58866400..58869361,2	MCF-7	breast:
13	chr13:53176767..53178427-chr13:53183717..53185389,2	MCF-7	breast:
14	chr13:53169737..53172275-chr13:53234901..53237385,2	MCF-7	breast:
15	chr13:53199936..53201723-chr13:53223791..53226214,2	K562	blood:
16	chr13:53184666..53187320-chr13:53188643..53190811,2	K562	blood:
17	chr13:53172771..53175608-chr13:53190178..53193759,4	MCF-7	breast:
18	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:
19	chr13:53215652..53217319-chr13:53217527..53219580,2	K562	blood:
20	chr13:53264710..53266234-chr13:53267984..53269930,2	K562	blood:
21	chr13:53239189..53240278-chr13:53420342..53420888,4	MCF-7	breast:
22	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
23	chr13:53226033..53226915-chr3:101568139..101568761,2	Hela-S3	cervix:
24	chr13:53215104..53217509-chr13:53226480..53228845,2	K562	blood:
25	chr13:53223315..53224976-chr13:53225042..53226635,2	MCF-7	breast:
26	chr13:53023875..53025638-chr13:53174219..53175747,2	MCF-7	breast:
27	chr13:53253633..53256352-chr13:53264459..53267100,2	K562	blood:
28	chr13:53213837..53216389-chr13:53220135..53222271,3	MCF-7	breast:
29	chr13:53028617..53031103-chr13:53172840..53175725,3	MCF-7	breast:
30	chr13:53190930..53191973-chr13:53226605..53227465,3	MCF-7	breast:
31	chr13:53272168..53275270-chr13:53277522..53280783,3	K562	blood:
32	chr12:93771675..93772184-chr13:53174171..53174759,2	NB4	blood:
33	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
34	chr13:53224982..53228384-chr13:53228728..53231432,4	MCF-7	breast:
35	chr13:53215104..53218356-chr13:53226198..53228845,3	K562	blood:
36	chr13:53225243..53228242-chr13:53242016..53244044,2	K562	blood:
37	chr13:53173175..53175683-chr13:53225993..53228450,3	MCF-7	breast:
38	chr13:53225429..53228125-chr13:53249748..53252503,2	K562	blood:
39	chr13:53258335..53260690-chr13:53267146..53270145,2	K562	blood:
40	chr13:53226272..53226795-chr9:130213363..130214026,2	Hela-S3	cervix:
41	chr13:53174054..53174958-chr19:10443932..10444611,2	NB4	blood:
42	chr13:53217144..53219904-chr13:53245859..53248065,2	K562	blood:
43	chr13:53258383..53260639-chr13:53264833..53266950,2	MCF-7	breast:
44	chr13:53199936..53201723-chr13:53223791..53226214,2	K562	blood:
45	chr13:53239322..53239980-chr13:53420318..53420910,2	MCF-7	breast:
46	chr13:53225264..53227638-chr2:38976930..38979242,2	MCF-7	breast:
47	chr13:52768173..52768983-chr13:53191222..53192131,3	NB4	blood:
48	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:
49	chr13:53239569..53240100-chr13:53542246..53542777,2	MCF-7	breast:
50	chr13:53226412..53226945-chr3:49044645..49045264,2	NB4	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUGT1-2	chr13:53196121-53196400	NONHSAT033997
2	lnc-SUGT1-2	chr13:53203352-53203490	NONHSAT033997
3	lnc-SUGT1-2	chr13:53211436-53211581	NONHSAT033997
4	lnc-LECT1-1	chr13:53263722-53263958	ENSG00000248190
5	lnc-SUGT1-2	chr13:53191693-53191840	NONHSAT033997
6	lnc-LECT1-1	chr13:53268955-53274883	ENSG00000248190
7	lnc-SUGT1-2	chr13:53201575-53201710	NONHSAT033997
8	lnc-SUGT1-2	chr13:53206555-53206624	NONHSAT033997

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

Extended variants
information (count: 4817 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:4817 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545484897	chr13:53144229-53144230	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191655339	chr13:53144234-53144235	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9526943	chr13:53144238-53144239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572303604	chr13:53144240-53144241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541749570	chr13:53144328-53144329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs112093517	chr13:53144513-53144514	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530257148	chr13:53144547-53144548	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549945717	chr13:53144565-53144566	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs183379176	chr13:53144570-53144571	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141948664	chr13:53144575-53144576	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs201260315	chr13:53150019-53150020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537083505	chr13:53150140-53150141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371455613	chr13:53150221-53150222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9568738	chr13:53150242-53150243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61958071	chr13:53150267-53150268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570797821	chr13:53150300-53150301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539747939	chr13:53150303-53150304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553590782	chr13:53150306-53150307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573398269	chr13:53150331-53150332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536035471	chr13:53150359-53150360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113301663	chr13:53150372-53150373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554739345	chr13:53150373-53150374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574600032	chr13:53150387-53150388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9526945	chr13:53153645-53153646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373787735	chr13:53153677-53153678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139956343	chr13:53153680-53153681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs59800806	chr13:53153685-53153686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9536152	chr13:53153701-53153702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117506803	chr13:53153703-53153704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192355826	chr13:53153704-53153705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571433928	chr13:53153738-53153739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139293903	chr13:53153758-53153759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554034104	chr13:53153770-53153771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567424386	chr13:53153774-53153775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536756682	chr13:53153876-53153877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9536153	chr13:53153950-53153951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs576429986	chr13:53153966-53153967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2164566	chr13:53153970-53153971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545053252	chr13:53153977-53153978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183222190	chr13:53154011-53154012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572666079	chr13:53154017-53154018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541279684	chr13:53154048-53154049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186829023	chr13:53154055-53154056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2575961	chr13:53154121-53154122	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs530223034	chr13:53154169-53154170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190010651	chr13:53154217-53154218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562418484	chr13:53154233-53154234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145868622	chr13:53154312-53154313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551104201	chr13:53154320-53154321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571191407	chr13:53154341-53154342	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3554 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53144200-53144400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:53144200-53144600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:53144400-53144600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:53144400-53144600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:53144400-53144600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:53144400-53144600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:53144400-53144600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:53144400-53144600	Enhancers	Fetal Muscle Trunk	muscle
9	chr13:53150000-53150400	Enhancers	HUVEC	blood vessel
10	chr13:53153600-53154400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:53160000-53161000	Enhancers	Fetal Heart	heart
12	chr13:53161000-53173000	Weak transcription	Fetal Heart	heart
13	chr13:53162000-53162400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr13:53162000-53162400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr13:53167600-53171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:53168000-53168400	Enhancers	Osteobl	bone
17	chr13:53168400-53168800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:53168400-53169000	Active TSS	HepG2	liver
19	chr13:53168400-53173000	Weak transcription	Osteobl	bone
20	chr13:53168800-53169000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:53168800-53172800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:53169000-53171400	Weak transcription	HepG2	liver
23	chr13:53169000-53174000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr13:53169400-53169600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:53169400-53173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:53169600-53169800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:53169800-53171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr13:53170200-53172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:53170800-53172400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr13:53171000-53171400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:53171200-53173800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:53171400-53172000	Enhancers	HepG2	liver
33	chr13:53171400-53173000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr13:53171400-53174200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:53172000-53173200	Weak transcription	HepG2	liver
36	chr13:53172400-53172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:53172600-53172800	Enhancers	Hela-S3	cervix
38	chr13:53172600-53173400	Enhancers	HUVEC	blood vessel
39	chr13:53172800-53173000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:53172800-53173000	Enhancers	Colon Smooth Muscle	Colon
41	chr13:53172800-53173000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr13:53172800-53173000	Enhancers	NHEK	skin
43	chr13:53172800-53173200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:53172800-53173200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:53172800-53173200	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr13:53172800-53173200	Enhancers	HMEC	breast
47	chr13:53172800-53173400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:53172800-53173400	Enhancers	Fetal Kidney	kidney
49	chr13:53172800-53173400	Enhancers	Fetal Muscle Leg	muscle
50	chr13:53172800-53173400	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links