Variant report

Variant	nsv561649
Chromosome Location	chr13:52491193-52570728
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1324)
CpG islands
(count:122)
Chromatin interactive
region (count:104)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1324 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52495897-52496511	K562	blood:	n/a	n/a
2	ARID3A	chr13:52545711-52546101	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:52553095-52553479	HepG2	liver:	n/a	n/a
4	ARID3A	chr13:52553083-52553442	K562	blood:	n/a	n/a
5	ARID3A	chr13:52552612-52552790	K562	blood:	n/a	n/a
6	ARID3A	chr13:52548554-52548896	K562	blood:	n/a	n/a
7	ARID3A	chr13:52563190-52563561	HepG2	liver:	n/a	n/a
8	ARID3A	chr13:52531205-52531861	K562	blood:	n/a	n/a
9	ARID3A	chr13:52551248-52551261	HepG2	liver:	n/a	n/a
10	ATF1	chr13:52548576-52549016	K562	blood:	n/a	n/a
11	ATF1	chr13:52531331-52531755	K562	blood:	n/a	n/a
12	ATF1	chr13:52550582-52550871	K562	blood:	n/a	n/a
13	ATF1	chr13:52495859-52496559	K562	blood:	n/a	n/a
14	ATF1	chr13:52552888-52553465	K562	blood:	n/a	n/a
15	ATF2	chr13:52531545-52531933	GM12878	blood:	n/a	n/a
16	ATF3	chr13:52553100-52553433	K562	blood:	n/a	n/a
17	ATF3	chr13:52553156-52553449	K562	blood:	n/a	n/a
18	ATF3	chr13:52553085-52553510	HepG2	liver:	n/a	n/a
19	ATF3	chr13:52495902-52496545	K562	blood:	n/a	n/a
20	ATF3	chr13:52553234-52553408	HepG2	liver:	n/a	n/a
21	BACH1	chr13:52529444-52529816	K562	blood:	n/a	n/a
22	BACH1	chr13:52565558-52565707	K562	blood:	n/a	n/a
23	BACH1	chr13:52509958-52510117	H1-hESC	embryonic stem cell:	n/a	n/a
24	BACH1	chr13:52552836-52552992	K562	blood:	n/a	n/a
25	BATF	chr13:52531350-52531936	GM12878	blood:	n/a	n/a
26	BATF	chr13:52498143-52498360	GM12878	blood:	n/a	n/a
27	BATF	chr13:52542339-52542512	GM12878	blood:	n/a	n/a
28	BCL11A	chr13:52531383-52531987	GM12878	blood:	n/a	n/a
29	BCL11A	chr13:52531563-52531979	GM12878	blood:	n/a	n/a
30	BCLAF1	chr13:52531684-52531991	GM12878	blood:	n/a	n/a
31	BHLHE40	chr13:52552947-52553274	K562	blood:	n/a	n/a
32	BHLHE40	chr13:52529507-52529804	K562	blood:	n/a	n/a
33	BHLHE40	chr13:52548631-52548941	K562	blood:	n/a	n/a
34	BHLHE40	chr13:52519413-52519744	GM12878	blood:	n/a	n/a
35	BHLHE40	chr13:52569873-52571048	K562	blood:	n/a	n/a
36	BHLHE40	chr13:52531427-52532046	GM12878	blood:	n/a	n/a
37	BHLHE40	chr13:52531264-52531971	K562	blood:	n/a	n/a
38	BHLHE40	chr13:52496009-52496529	K562	blood:	n/a	n/a
39	BHLHE40	chr13:52533918-52534220	GM12878	blood:	n/a	n/a
40	CBX3	chr13:52548596-52548966	K562	blood:	n/a	n/a
41	CBX3	chr13:52495983-52496519	K562	blood:	n/a	n/a
42	CBX3	chr13:52552933-52553521	K562	blood:	n/a	n/a
43	CBX3	chr13:52496130-52496506	K562	blood:	n/a	n/a
44	CCNT2	chr13:52567682-52567742	K562	blood:	n/a	n/a
45	CCNT2	chr13:52495974-52496514	K562	blood:	n/a	n/a
46	CCNT2	chr13:52553111-52553442	K562	blood:	n/a	n/a
47	CEBPB	chr13:52566899-52567191	K562	blood:	n/a	n/a
48	CEBPB	chr13:52553148-52553409	Hela-S3	cervix:	n/a	chr13:52553277-52553288
49	CEBPB	chr13:52496218-52496403	K562	blood:	n/a	n/a
50	CEBPB	chr13:52495909-52496524	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52508263-52508313	HNPCEpiC	eye:	n/a
2	chr13:52507913-52507963	NT2-D1	testis:	n/a
3	chr13:52508263-52508313	NH-A	brain:	n/a
4	chr13:52508263-52508313	BJ	skin:	n/a
5	chr13:52508263-52508313	HEK293	kidney:	embryo
6	chr13:52507913-52507963	NB4	blood:	n/a
7	chr13:52507913-52507963	LNCaP	prostate:	n/a
8	chr13:52507913-52507963	HRCEpiC	kidney:	n/a
9	chr13:52507913-52507963	Hepatocyte	liver:	n/a
10	chr13:52508263-52508313	MCF10A-Er-Src	breast:	n/a
11	chr13:52507913-52507963	HNPCEpiC	eye:	n/a
12	chr13:52507913-52507963	AG10803	skin:	n/a
13	chr13:52507913-52507963	HAEpiC	amniotic membrane:	n/a
14	chr13:52507913-52507963	PANC-1	pancreas:	n/a
15	chr13:52507913-52507963	GM12878	blood:	n/a
16	chr13:52508263-52508313	HUVEC	blood vessel:	n/a
17	chr13:52507913-52507963	HEK293	kidney:	embryo
18	chr13:52507913-52507963	HPAEpiC	pulmonary alveolar:	n/a
19	chr13:52507913-52507963	U87	brain:	n/a
20	chr13:52508263-52508313	HMEC	breast:	n/a
21	chr13:52508263-52508313	HAEpiC	amniotic membrane:	n/a
22	chr13:52508263-52508313	AG09309	skin:	n/a
23	chr13:52508263-52508313	Hela-S3	cervix:	n/a
24	chr13:52508263-52508313	GM12892	blood:	n/a
25	chr13:52507913-52507963	HepG2	liver:	n/a
26	chr13:52508263-52508313	HPAEpiC	pulmonary alveolar:	n/a
27	chr13:52507913-52507963	GM12892	blood:	n/a
28	chr13:52508263-52508313	NT2-D1	testis:	n/a
29	chr13:52507913-52507963	SK-N-MC	brain:	n/a
30	chr13:52508263-52508313	AG04450	lung:	fetal
31	chr13:52508263-52508313	RPTEC	kidney:	n/a
32	chr13:52508263-52508313	PrEC	prostate:	n/a
33	chr13:52508263-52508313	U87	brain:	n/a
34	chr13:52508263-52508313	HCPEpiC	choroid plexus:	n/a
35	chr13:52508263-52508313	HCM	heart:	n/a
36	chr13:52507913-52507963	HMEC	breast:	n/a
37	chr13:52507913-52507963	AoSMC	blood vessel:	n/a
38	chr13:52507913-52507963	ovcar-3	ovarian:	n/a
39	chr13:52507913-52507963	IMR90	lung:	fetal
40	chr13:52508263-52508313	LNCaP	prostate:	n/a
41	chr13:52507913-52507963	NHBE	bronchial:	n/a
42	chr13:52508263-52508313	ProgFib	skin:	n/a
43	chr13:52508263-52508313	Hepatocyte	liver:	n/a
44	chr13:52508263-52508313	T-47D	breast:	n/a
45	chr13:52507913-52507963	PrEC	prostate:	n/a
46	chr13:52507913-52507963	SKMC	muscle:	n/a
47	chr13:52507913-52507963	GM19239	blood:	n/a
48	chr13:52508263-52508313	GM06990	blood:	n/a
49	chr13:52508263-52508313	PFSK-1	brain:	n/a
50	chr13:52507913-52507963	MCF10A-Er-Src	breast:	n/a

(count:104 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr13:52480974..52481796-chr13:52493420..52494449,6	MCF-7	breast:
2	chr13:52521155..52523610-chr13:52530380..52532308,2	MCF-7	breast:
3	chr13:52526952..52529945-chr13:52530392..52532548,2	MCF-7	breast:
4	chr13:52555699..52557383-chr13:52562997..52565551,2	MCF-7	breast:
5	chr13:52564916..52570042-chr13:52571727..52575592,5	MCF-7	breast:
6	chr13:52550522..52553056-chr13:52572837..52575567,2	MCF-7	breast:
7	chr13:52549808..52551859-chr13:52553072..52555669,2	K562	blood:
8	chr13:52479905..52480672-chr13:52493409..52494046,3	MCF-7	breast:
9	chr13:52525579..52528317-chr13:52530342..52532434,2	K562	blood:
10	chr13:52538417..52541078-chr13:52553924..52556751,2	K562	blood:
11	chr13:52508686..52511776-chr13:52512431..52515057,3	MCF-7	breast:
12	chr13:52528654..52531315-chr13:52532964..52534953,3	K562	blood:
13	chr13:52547595..52550530-chr13:52570344..52571885,2	K562	blood:
14	chr13:52546299..52549465-chr13:52553764..52557298,3	K562	blood:
15	chr13:52493587..52494261-chr13:52503568..52504361,2	MCF-7	breast:
16	chr13:52532889..52534545-chr13:52566217..52568860,2	MCF-7	breast:
17	chr13:52484875..52491698-chr13:52491732..52499779,14	MCF-7	breast:
18	chr13:52522795..52524482-chr13:52694291..52697001,2	K562	blood:
19	chr13:52561953..52567975-chr13:52568159..52572243,8	K562	blood:
20	chr13:52494041..52496295-chr13:52497772..52499467,2	MCF-7	breast:
21	chr13:52484188..52486390-chr13:52491938..52494786,2	K562	blood:
22	chr13:52532889..52534545-chr13:52566217..52568860,2	MCF-7	breast:
23	chr13:52528629..52531468-chr13:52535704..52537368,2	K562	blood:
24	chr13:52500788..52502899-chr13:52504478..52506226,2	MCF-7	breast:
25	chr12:112278104..112280783-chr13:52545598..52548127,2	MCF-7	breast:
26	chr13:52485914..52486609-chr13:52509619..52510504,2	MCF-7	breast:
27	chr13:52470567..52471308-chr13:52498216..52498748,3	MCF-7	breast:
28	chr13:52538366..52539879-chr13:52542214..52544813,2	K562	blood:
29	chr13:52513900..52515674-chr13:52517334..52520081,2	K562	blood:
30	chr13:52562562..52567113-chr13:52569338..52572980,4	MCF-7	breast:
31	chr13:52565945..52573624-chr13:52584322..52588378,8	K562	blood:
32	chr13:52498426..52500367-chr13:52585440..52587575,2	MCF-7	breast:
33	chr13:52502344..52503850-chr13:52505808..52508798,2	MCF-7	breast:
34	chr13:52532973..52534603-chr13:52584992..52587362,2	K562	blood:
35	chr13:52500788..52502899-chr13:52504478..52506226,2	MCF-7	breast:
36	chr13:52493798..52494361-chr13:52503822..52504446,2	MCF-7	breast:
37	chr13:52478432..52480213-chr13:52499917..52502215,2	MCF-7	breast:
38	chr13:52562562..52567113-chr13:52569338..52572980,4	MCF-7	breast:
39	chr13:52534596..52536484-chr13:52537213..52539765,2	K562	blood:
40	chr13:52526952..52529945-chr13:52530392..52532548,2	MCF-7	breast:
41	chr13:52501775..52503444-chr13:52504796..52507075,2	K562	blood:
42	chr13:52509585..52510535-chr13:52701601..52702261,3	K562	blood:
43	chr13:52493798..52494361-chr13:52503822..52504446,2	MCF-7	breast:
44	chr13:52493587..52494261-chr13:52503568..52504361,2	MCF-7	breast:
45	chr13:52538063..52541078-chr13:52554449..52557060,3	K562	blood:
46	chr13:52530274..52531929-chr13:52534277..52536786,2	MCF-7	breast:
47	chr13:52484875..52491698-chr13:52491732..52499779,14	MCF-7	breast:
48	chr13:52538268..52540187-chr13:52546214..52549057,2	K562	blood:
49	chr13:52555699..52557383-chr13:52562997..52565551,2	MCF-7	breast:
50	chr13:52522149..52524363-chr13:52528676..52530661,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC70-2	chr13:52507330-52508047	NONHSAT033958
2	lnc-CCDC70-1	chr13:52495387-52495723	NONHSAT033957
3	lnc-CCDC70-2	chr13:52506091-52506175	NONHSAT033958

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ATP7B	hsa-miR-98-5p	chr13:52508432-52508426

Variant related genes	Relation type
FABP5P2	TF binding region
ATP7B	TF binding region
FABP5P2	CpG island
ATP7B	CpG island
ENSG00000232872	chromatin interactions
ENSG00000234608	chromatin interactions
ENSG00000089022	chromatin interactions
ENSG00000236044	chromatin interactions
ENSG00000253710	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000123191	chromatin interactions
ENSG00000248594	chromatin interactions
ENSG00000197168	chromatin interactions
ENSG00000236778	chromatin interactions

Extended variants
information (count: 3281 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:3281 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs967597	chr13:52491193-52491194	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142649033	chr13:52491236-52491237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532623068	chr13:52491249-52491250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192140370	chr13:52491328-52491329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571050192	chr13:52491426-52491427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561410818	chr13:52491448-52491449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11148231	chr13:52491466-52491467	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547011306	chr13:52491470-52491471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183822239	chr13:52491486-52491487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7996202	chr13:52491535-52491536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556213367	chr13:52491541-52491542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146669813	chr13:52491642-52491643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188533383	chr13:52491648-52491649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs958031	chr13:52491688-52491689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181353852	chr13:52491703-52491704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530541874	chr13:52491729-52491730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147936348	chr13:52491782-52491783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574773161	chr13:52491812-52491813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371630640	chr13:52491834-52491835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142029975	chr13:52491874-52491875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528946396	chr13:52491906-52491907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532727930	chr13:52491920-52491921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74631884	chr13:52491921-52491922	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547517811	chr13:52491932-52491933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564589775	chr13:52491936-52491937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527401354	chr13:52491972-52491973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73498112	chr13:52492044-52492045	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9596612	chr13:52492059-52492060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529703639	chr13:52492084-52492085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78541706	chr13:52492089-52492090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569862265	chr13:52492101-52492102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538781721	chr13:52492126-52492127	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558812100	chr13:52492232-52492233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs566142375	chr13:52492296-52492297	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564136862	chr13:52492301-52492302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535104024	chr13:52492308-52492309	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186014974	chr13:52492333-52492334	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs376584850	chr13:52492369-52492370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543492180	chr13:52492383-52492384	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557592686	chr13:52492414-52492415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190135741	chr13:52492500-52492501	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs17076102	chr13:52492509-52492510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9596613	chr13:52492525-52492526	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs111259569	chr13:52492543-52492544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182365995	chr13:52492555-52492556	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs573131251	chr13:52492566-52492567	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs555761002	chr13:52492573-52492574	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540725758	chr13:52492583-52492584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs150123800	chr13:52492590-52492591	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs35680472	chr13:52492592-52492593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21645411	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
2	chr13:52475600-52493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:52476200-52493800	Weak transcription	K562	blood
4	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr13:52480200-52497200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:52481200-52496400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:52481200-52496600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:52481600-52502000	Weak transcription	Right Atrium	heart
9	chr13:52481800-52506000	Weak transcription	Ovary	ovary
10	chr13:52486400-52500200	Weak transcription	Fetal Kidney	kidney
11	chr13:52486400-52523400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:52486800-52502000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:52487000-52507800	Weak transcription	Pancreas	Pancrea
14	chr13:52487400-52496800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr13:52488000-52507800	Weak transcription	Brain Anterior Caudate	brain
16	chr13:52488000-52508200	Weak transcription	Brain Angular Gyrus	brain
17	chr13:52488000-52508200	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:52488200-52505800	Weak transcription	Brain Germinal Matrix	brain
19	chr13:52488200-52508000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr13:52488200-52542200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr13:52488400-52496600	Weak transcription	Fetal Brain Female	brain
22	chr13:52488400-52496800	Weak transcription	Thymus	Thymus
23	chr13:52488600-52496400	Weak transcription	Fetal Stomach	stomach
24	chr13:52489000-52494600	Weak transcription	Esophagus	oesophagus
25	chr13:52489000-52496800	Weak transcription	Fetal Muscle Leg	muscle
26	chr13:52489600-52491200	Enhancers	Fetal Heart	heart
27	chr13:52489600-52508400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:52490000-52509400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr13:52490600-52491200	Strong transcription	HepG2	liver
30	chr13:52491000-52491200	ZNF genes & repeats	Lung	lung
31	chr13:52491000-52491800	Strong transcription	Fetal Intestine Large	intestine
32	chr13:52491000-52491800	Strong transcription	Fetal Intestine Small	intestine
33	chr13:52491000-52492400	Strong transcription	Liver	Liver
34	chr13:52491200-52492000	Weak transcription	HepG2	liver
35	chr13:52491200-52499800	Weak transcription	Fetal Heart	heart
36	chr13:52491200-52500200	Weak transcription	Lung	lung
37	chr13:52491600-52497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:52491800-52493800	Weak transcription	Fetal Intestine Large	intestine
39	chr13:52491800-52495000	Weak transcription	Fetal Intestine Small	intestine
40	chr13:52492000-52492400	Strong transcription	HepG2	liver
41	chr13:52492000-52508400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:52492400-52496600	Weak transcription	Liver	Liver
43	chr13:52492400-52497000	Weak transcription	HepG2	liver
44	chr13:52492600-52539600	Weak transcription	Fetal Brain Male	brain
45	chr13:52493600-52494200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr13:52493800-52494200	Enhancers	Fetal Intestine Large	intestine
47	chr13:52493800-52495200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:52493800-52496000	Enhancers	K562	blood
49	chr13:52493800-52496600	Enhancers	Placenta	Placenta
50	chr13:52494000-52494800	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links