Variant report

Variant	esv2753896
Chromosome Location	chr5:11848600-11967600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:380)
CpG islands
(count:1161)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr5:11904533-11904959	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr5:11919052-11919165	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:11904663-11904948	H1-hESC	embryonic stem cell:	n/a	n/a
4	BRCA1	chr5:11904562-11904812	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr5:11851968-11851972	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr5:11880531-11880774	K562	blood:	n/a	n/a
7	CEBPB	chr5:11908155-11908404	IMR90	lung:	n/a	chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908252 chr5:11908243-11908254 chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908254
8	CEBPB	chr5:11903908-11904102	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr5:11908171-11908314	K562	blood:	n/a	chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908252 chr5:11908243-11908254 chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908254
10	CEBPB	chr5:11908114-11908408	HepG2	liver:	n/a	chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908252 chr5:11908243-11908254 chr5:11908243-11908252 chr5:11908243-11908252 chr5:11908241-11908254
11	CHD1	chr5:11964249-11964266	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr5:11904593-11904814	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr5:11904566-11904995	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr5:11903266-11905599	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:11849609-11849785	MCF-7	breast:	n/a	chr5:11849683-11849704
16	CTCF	chr5:11927600-11927750	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr5:11904068-11904325	MCF-7	breast:	n/a	chr5:11904266-11904279
18	CTCF	chr5:11904953-11904977	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:11906755-11906893	Medullo	brain:	n/a	n/a
20	CTCF	chr5:11849592-11849809	MCF-7	breast:	n/a	chr5:11849683-11849704
21	CTCF	chr5:11919011-11919135	MCF-7	breast:	n/a	n/a
22	CTCF	chr5:11906584-11907045	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:11902540-11902690	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr5:11904121-11904280	H1-hESC	embryonic stem cell:	n/a	chr5:11904266-11904279
25	CTCF	chr5:11853340-11853490	HEK293	kidney:	n/a	n/a
26	CTCF	chr5:11904125-11904220	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr5:11903794-11904319	MCF-7	breast:	n/a	chr5:11903816-11903834 chr5:11903818-11903831 chr5:11904266-11904279 chr5:11903852-11903861
28	CTCF	chr5:11849640-11849790	MCF-7	breast:	n/a	chr5:11849683-11849704
29	CTCF	chr5:11903700-11903850	WERI-Rb-1	eye:	n/a	chr5:11903816-11903834 chr5:11903818-11903831
30	CTCF	chr5:11904890-11905052	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:11890960-11891110	Caco-2	colon:	n/a	n/a
32	CTCF	chr5:11904855-11905043	MCF-7	breast:	n/a	chr5:11904858-11904868
33	CTCF	chr5:11904136-11904267	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:11904145-11904262	Medullo	brain:	n/a	n/a
35	CTCF	chr5:11903880-11904030	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr5:11902580-11902730	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr5:11904158-11904287	LNCaP	prostate:	n/a	chr5:11904266-11904279
38	CTCF	chr5:11906740-11906890	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr5:11904873-11905041	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:11903783-11903895	MCF-7	breast:	n/a	chr5:11903816-11903834 chr5:11903818-11903831 chr5:11903852-11903861
41	CTCF	chr5:11904140-11904290	GM12868	blood:	n/a	chr5:11904266-11904279
42	CTCF	chr5:11891046-11891071	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:11890920-11891070	HAc	cerebellar:	n/a	n/a
44	CTCF	chr5:11904070-11904322	MCF-7	breast:	n/a	chr5:11904266-11904279
45	CTCF	chr5:11904113-11904252	Fibrobl	skin:	n/a	n/a
46	CTCF	chr5:11906720-11906870	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr5:11904120-11904270	GM12871	blood:	n/a	n/a
48	CTCF	chr5:11903780-11903930	SK-N-SH_RA	brain:	n/a	chr5:11903816-11903834 chr5:11903818-11903831 chr5:11903852-11903861
49	CTCF	chr5:11906660-11906810	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:11929733-11929750	GM20000	blood:	n/a	n/a

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:11906843-11906893	RPTEC	kidney:	n/a
2	chr5:11904442-11904492	IMR90	lung:	fetal
3	chr5:11906843-11906893	RPTEC	kidney:	n/a
4	chr5:11904442-11904492	IMR90	lung:	fetal
5	chr5:11903299-11903349	BE2_C	brain:	n/a
6	chr5:11904811-11904861	PrEC	prostate:	n/a
7	chr5:11931715-11931765	NT2-D1	testis:	n/a
8	chr5:11931819-11931869	NHBE	bronchial:	n/a
9	chr5:11904912-11904962	Hepatocyte	liver:	n/a
10	chr5:11904110-11904160	ProgFib	skin:	n/a
11	chr5:11903441-11903491	BE2_C	brain:	n/a
12	chr5:11904022-11904072	HIPEpiC	eye:	n/a
13	chr5:11904442-11904492	GM06990	blood:	n/a
14	chr5:11904811-11904861	HepG2	liver:	n/a
15	chr5:11904127-11904177	HEK293	kidney:	embryo
16	chr5:11965372-11965422	HRCEpiC	kidney:	n/a
17	chr5:11903145-11903195	CMK	blood:	n/a
18	chr5:11851713-11851763	AoSMC	blood vessel:	n/a
19	chr5:11903145-11903195	GM12891	blood:	n/a
20	chr5:11904912-11904962	HNPCEpiC	eye:	n/a
21	chr5:11904442-11904492	Jurkat	blood:	n/a
22	chr5:11904912-11904962	SKMC	muscle:	n/a
23	chr5:11904084-11904134	AG04449	skin:	fetal
24	chr5:11931715-11931765	HNPCEpiC	eye:	n/a
25	chr5:11904912-11904962	T-47D	breast:	n/a
26	chr5:11904110-11904160	GM12878	blood:	n/a
27	chr5:11931715-11931765	MCF-7	breast:	n/a
28	chr5:11906843-11906893	Jurkat	blood:	n/a
29	chr5:11965372-11965422	BE2_C	brain:	n/a
30	chr5:11903145-11903195	H1-hESC	embryonic stem cell:	embryo
31	chr5:11904912-11904962	A549	lung:	n/a
32	chr5:11903651-11903701	BE2_C	brain:	n/a
33	chr5:11904811-11904861	AoSMC	blood vessel:	n/a
34	chr5:11965372-11965422	HCF	heart:	n/a
35	chr5:11904110-11904160	K562	blood:	n/a
36	chr5:11903145-11903195	AoSMC	blood vessel:	n/a
37	chr5:11904114-11904164	MCF10A-Er-Src	breast:	n/a
38	chr5:11904811-11904861	MCF-7	breast:	n/a
39	chr5:11904110-11904160	AG04450	lung:	fetal
40	chr5:11904110-11904160	T-47D	breast:	n/a
41	chr5:11904084-11904134	GM12892	blood:	n/a
42	chr5:11903296-11903346	NT2-D1	testis:	n/a
43	chr5:11851713-11851763	HEEpiC	esophagus:	n/a
44	chr5:11851713-11851763	CMK	blood:	n/a
45	chr5:11904442-11904492	AG09319	gingival:	n/a
46	chr5:11903441-11903491	CMK	blood:	n/a
47	chr5:11903296-11903346	Jurkat	blood:	n/a
48	chr5:11904110-11904160	GM12892	blood:	n/a
49	chr5:11904022-11904072	U87	brain:	n/a
50	chr5:11851713-11851763	NHBE	bronchial:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:11859812..11861535-chr5:11865797..11868261,2	MCF-7	breast:
2	chr5:11909164..11912061-chr5:11913406..11916377,2	MCF-7	breast:
3	chr5:11889748..11894118-chr5:11902088..11904843,3	MCF-7	breast:
4	chr5:11932910..11934532-chr5:11943995..11945587,2	MCF-7	breast:
5	chr5:11853324..11856135-chr5:11873826..11876645,2	K562	blood:
6	chr5:11909164..11912061-chr5:11913406..11916377,2	MCF-7	breast:
7	chr5:11957297..11959907-chr5:11964344..11966924,2	K562	blood:
8	chr5:11894502..11896433-chr5:11899573..11901138,2	MCF-7	breast:
9	chr5:11908684..11911495-chr5:12021242..12023652,2	MCF-7	breast:
10	chr5:11894502..11896433-chr5:11899573..11901138,2	MCF-7	breast:
11	chr5:11892212..11895855-chr5:11901619..11906189,6	MCF-7	breast:
12	chr5:11899125..11901660-chr5:11902822..11905443,2	MCF-7	breast:
13	chr5:11919240..11921976-chr5:11939425..11941208,2	MCF-7	breast:
14	chr5:11852943..11856124-chr5:11856411..11859589,3	MCF-7	breast:
15	chr5:11840836..11843199-chr5:11845448..11848873,3	MCF-7	breast:
16	chr5:11897922..11899438-chr5:11902870..11905551,2	MCF-7	breast:
17	chr5:11853324..11856135-chr5:11873826..11876645,2	K562	blood:
18	chr5:11919240..11921976-chr5:11939425..11941208,2	MCF-7	breast:
19	chr5:11904640..11905448-chr5:12023254..12024388,4	MCF-7	breast:
20	chr5:11916333..11919285-chr5:11933617..11935889,2	MCF-7	breast:
21	chr5:11896707..11898730-chr5:11900640..11902763,2	MCF-7	breast:
22	chr5:11903370..11905035-chr5:11907518..11910169,2	MCF-7	breast:
23	chr5:11862763..11864914-chr5:11865184..11867447,2	MCF-7	breast:
24	chr5:11859812..11861535-chr5:11865797..11868261,2	MCF-7	breast:
25	chr5:11916971..11919101-chr5:11923394..11925197,2	MCF-7	breast:
26	chr5:11862763..11864914-chr5:11865184..11867447,2	MCF-7	breast:
27	chr5:11839981..11841766-chr5:11851251..11853060,2	MCF-7	breast:
28	chr5:11932910..11934532-chr5:11943995..11945587,2	MCF-7	breast:
29	chr5:11896707..11898730-chr5:11900640..11902763,2	MCF-7	breast:
30	chr5:11722526..11726691-chr5:11904950..11907468,3	MCF-7	breast:
31	chr5:11852943..11856124-chr5:11856411..11859589,3	MCF-7	breast:
32	chr5:11957297..11959907-chr5:11964344..11966924,2	K562	blood:
33	chr5:11916333..11919285-chr5:11933617..11935889,2	MCF-7	breast:
34	chr5:11916971..11919101-chr5:11923394..11925197,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTNND2	TF binding region
CTNND2	CpG island
ENSG00000169862	chromatin interactions

Extended variants
information (count: 2595 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2595 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76575266	chr5:11848607-11848608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192919503	chr5:11848651-11848652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183513220	chr5:11848652-11848653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369888449	chr5:11848663-11848664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551405071	chr5:11848697-11848698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188064660	chr5:11848708-11848709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113477624	chr5:11848742-11848743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548748481	chr5:11848750-11848751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561911537	chr5:11848761-11848762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62337740	chr5:11848766-11848767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534525958	chr5:11848773-11848774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374660012	chr5:11848846-11848847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116740252	chr5:11848848-11848849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16901934	chr5:11848871-11848872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs113263160	chr5:11848872-11848873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557357628	chr5:11848876-11848877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575984670	chr5:11848926-11848927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557626309	chr5:11849068-11849069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547590880	chr5:11849129-11849130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79612497	chr5:11849137-11849138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73048714	chr5:11849145-11849146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs552790693	chr5:11849156-11849157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577708413	chr5:11849176-11849177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112997955	chr5:11849186-11849187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562974455	chr5:11849199-11849200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150350289	chr5:11849204-11849205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546502128	chr5:11849205-11849206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372166144	chr5:11849215-11849216	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560861605	chr5:11849256-11849257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138071332	chr5:11849260-11849261	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573205463	chr5:11849284-11849285	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191870139	chr5:11849303-11849304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143744164	chr5:11849311-11849312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6879642	chr5:11849324-11849325	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs200281236	chr5:11849373-11849374	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540300438	chr5:11849375-11849376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377179067	chr5:11849384-11849385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34548977	chr5:11849385-11849386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529012770	chr5:11849399-11849400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34920791	chr5:11849412-11849413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569240084	chr5:11849414-11849415	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35427257	chr5:11849453-11849454	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536654938	chr5:11849471-11849472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555255003	chr5:11849473-11849474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541043077	chr5:11849479-11849480	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537719746	chr5:11849491-11849492	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567218656	chr5:11849507-11849508	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534121757	chr5:11849510-11849511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559141479	chr5:11849527-11849528	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577644384	chr5:11849535-11849536	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	17713554	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Schizophrenia	21956041	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Glioma	20126413	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:11831000-11851600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:11844600-11851000	Weak transcription	Fetal Brain Female	brain
3	chr5:11845600-11849200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:11846200-11851200	Weak transcription	Fetal Heart	heart
5	chr5:11846200-11851600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:11848600-11848800	Enhancers	Brain Angular Gyrus	brain
7	chr5:11848800-11855000	Weak transcription	Brain Angular Gyrus	brain
8	chr5:11849200-11850200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:11849600-11849800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:11849800-11855200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:11850200-11851200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:11851000-11851600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:11851000-11852600	Enhancers	Fetal Brain Female	brain
14	chr5:11851200-11852400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:11851200-11852400	Enhancers	Fetal Brain Male	brain
16	chr5:11851200-11853000	Enhancers	NH-A	brain
17	chr5:11851200-11853400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:11851200-11853600	Enhancers	Fetal Heart	heart
19	chr5:11851200-11856600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:11851400-11852600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:11851400-11854600	Enhancers	Brain Germinal Matrix	brain
22	chr5:11851600-11851800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:11851600-11852200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:11851600-11852200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:11851600-11852200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:11851600-11852400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:11851600-11852400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:11851600-11852400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:11851600-11852400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:11851600-11852400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr5:11851600-11852400	Enhancers	Brain Anterior Caudate	brain
32	chr5:11851600-11852400	Enhancers	Pancreas	Pancrea
33	chr5:11851600-11853800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:11851800-11852200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:11851800-11852400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr5:11851800-11852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:11851800-11853200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:11852000-11853800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:11852400-11852600	Enhancers	Brain Cingulate Gyrus	brain
40	chr5:11852400-11853400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:11852400-11853400	Weak transcription	Pancreas	Pancrea
42	chr5:11852400-11854000	Weak transcription	Brain Anterior Caudate	brain
43	chr5:11852400-11866600	Weak transcription	Fetal Brain Male	brain
44	chr5:11852600-11852800	Enhancers	Brain Hippocampus Middle	brain
45	chr5:11852600-11853000	Weak transcription	Fetal Brain Female	brain
46	chr5:11852800-11854000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr5:11853000-11853400	Weak transcription	NH-A	brain
48	chr5:11853000-11854600	Enhancers	Fetal Brain Female	brain
49	chr5:11853200-11854000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr5:11853400-11853600	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links