Variant report

Variant	nsv870296
Chromosome Location	chr4:88173534-88295927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1091)
CpG islands
(count:428)
Chromatin interactive
region (count:42)
LncRNA
region (count:6)
Mature miRNA
region (count: 1)
miRNA target
sites (count:1)

(count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:88196507-88196704	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:88199339-88199978	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:88253897-88253929	K562	blood:	n/a	n/a
4	ARID3A	chr4:88238747-88239287	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:88195615-88195678	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:88191313-88191649	HepG2	liver:	n/a	n/a
7	ATF1	chr4:88175943-88176099	K562	blood:	n/a	n/a
8	ATF2	chr4:88227105-88227643	GM12878	blood:	n/a	n/a
9	ATF2	chr4:88227219-88227557	GM12878	blood:	n/a	n/a
10	ATF3	chr4:88284647-88285150	HCT-116	colon:	n/a	n/a
11	ATF3	chr4:88284655-88285120	A549	lung:	n/a	n/a
12	ATF3	chr4:88199339-88199930	HepG2	liver:	n/a	n/a
13	ATF3	chr4:88199549-88199769	HepG2	liver:	n/a	n/a
14	ATF3	chr4:88223744-88223892	K562	blood:	n/a	n/a
15	BACH1	chr4:88191402-88191656	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr4:88228029-88228308	GM12878	blood:	n/a	n/a
17	BATF	chr4:88227243-88227499	GM12878	blood:	n/a	chr4:88227386-88227397
18	BCL3	chr4:88225796-88226325	A549	lung:	n/a	n/a
19	BCL3	chr4:88227213-88227544	GM12878	blood:	n/a	n/a
20	BCLAF1	chr4:88274531-88275047	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:88280589-88280606	K562	blood:	n/a	n/a
22	BHLHE40	chr4:88238776-88238949	HepG2	liver:	n/a	n/a
23	BHLHE40	chr4:88199420-88199720	HepG2	liver:	n/a	n/a
24	BHLHE40	chr4:88199328-88199876	HepG2	liver:	n/a	n/a
25	BHLHE40	chr4:88199507-88199750	HepG2	liver:	n/a	n/a
26	BRCA1	chr4:88225715-88226363	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr4:88274849-88275046	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:88274711-88274757	GM12878	blood:	n/a	n/a
29	BRCA1	chr4:88191281-88191673	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr4:88263580-88263749	Hela-S3	cervix:	n/a	n/a
31	CBX3	chr4:88207920-88208188	K562	blood:	n/a	n/a
32	CBX3	chr4:88254322-88254718	K562	blood:	n/a	n/a
33	CBX3	chr4:88254173-88254833	K562	blood:	n/a	n/a
34	CBX3	chr4:88215016-88215405	K562	blood:	n/a	n/a
35	CEBPB	chr4:88262614-88262799	IMR90	lung:	n/a	chr4:88262658-88262669
36	CEBPB	chr4:88274649-88274999	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr4:88262596-88262828	HepG2	liver:	n/a	chr4:88262658-88262669
38	CEBPB	chr4:88238169-88239081	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr4:88293414-88293431	K562	blood:	n/a	n/a
40	CEBPB	chr4:88274583-88274924	MCF-7	breast:	n/a	n/a
41	CEBPB	chr4:88280524-88280680	H1-hESC	embryonic stem cell:	n/a	chr4:88280568-88280579
42	CEBPB	chr4:88197413-88197511	HepG2	liver:	n/a	chr4:88197420-88197431
43	CEBPB	chr4:88225791-88226474	MCF-7	breast:	n/a	n/a
44	CEBPB	chr4:88238754-88238999	IMR90	lung:	n/a	n/a
45	CEBPB	chr4:88199523-88199974	HepG2	liver:	n/a	n/a
46	CEBPB	chr4:88257547-88258074	HepG2	liver:	n/a	chr4:88257687-88257696 chr4:88257685-88257696 chr4:88257685-88257698 chr4:88257687-88257698 chr4:88257687-88257696 chr4:88257687-88257696 chr4:88257687-88257696 chr4:88257685-88257698 chr4:88257687-88257698 chr4:88257685-88257698
47	CEBPB	chr4:88280504-88280678	A549	lung:	n/a	chr4:88280568-88280579
48	CEBPB	chr4:88230065-88230288	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr4:88274654-88274987	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr4:88226731-88227502	Hela-S3	cervix:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:88258112-88258162	ECC-1	luminal epithelium:	n/a
2	chr4:88258112-88258162	ECC-1	luminal epithelium:	n/a
3	chr4:88258112-88258162	NB4	blood:	n/a
4	chr4:88244909-88244959	HepG2	liver:	n/a
5	chr4:88245032-88245082	SK-N-SH	brain:	n/a
6	chr4:88225834-88225884	HRCEpiC	kidney:	n/a
7	chr4:88244142-88244192	HIPEpiC	eye:	n/a
8	chr4:88245032-88245082	HNPCEpiC	eye:	n/a
9	chr4:88258112-88258162	SAEC	small airway:	n/a
10	chr4:88233933-88233983	GM06990	blood:	n/a
11	chr4:88233933-88233983	HRPEpiC	eye:	n/a
12	chr4:88244142-88244192	BJ	skin:	n/a
13	chr4:88225834-88225884	NHBE	bronchial:	n/a
14	chr4:88243818-88243868	CMK	blood:	n/a
15	chr4:88225834-88225884	SK-N-SH_RA	brain:	n/a
16	chr4:88225834-88225884	T-47D	breast:	n/a
17	chr4:88233933-88233983	HRE	kidney:	n/a
18	chr4:88225834-88225884	HL-60	blood:	n/a
19	chr4:88258112-88258162	NH-A	brain:	n/a
20	chr4:88225834-88225884	HCF	heart:	n/a
21	chr4:88243818-88243868	SKMC	muscle:	n/a
22	chr4:88233933-88233983	CMK	blood:	n/a
23	chr4:88233933-88233983	HUVEC	blood vessel:	n/a
24	chr4:88244142-88244192	GM06990	blood:	n/a
25	chr4:88225834-88225884	HRPEpiC	eye:	n/a
26	chr4:88243818-88243868	HIPEpiC	eye:	n/a
27	chr4:88233933-88233983	MCF-7	breast:	n/a
28	chr4:88245032-88245082	GM19239	blood:	n/a
29	chr4:88245032-88245082	HCT-116	colon:	n/a
30	chr4:88244909-88244959	IMR90	lung:	fetal
31	chr4:88245032-88245082	HCF	heart:	n/a
32	chr4:88258112-88258162	HepG2	liver:	n/a
33	chr4:88245032-88245082	Caco-2	colon:	n/a
34	chr4:88243818-88243868	NT2-D1	testis:	n/a
35	chr4:88244909-88244959	ProgFib	skin:	n/a
36	chr4:88243818-88243868	NB4	blood:	n/a
37	chr4:88233933-88233983	Jurkat	blood:	n/a
38	chr4:88225834-88225884	HNPCEpiC	eye:	n/a
39	chr4:88245032-88245082	PFSK-1	brain:	n/a
40	chr4:88244909-88244959	Hepatocyte	liver:	n/a
41	chr4:88233933-88233983	AG09319	gingival:	n/a
42	chr4:88244142-88244192	Hela-S3	cervix:	n/a
43	chr4:88244909-88244959	AG09319	gingival:	n/a
44	chr4:88244142-88244192	HRPEpiC	eye:	n/a
45	chr4:88225834-88225884	PANC-1	pancreas:	n/a
46	chr4:88258112-88258162	SKMC	muscle:	n/a
47	chr4:88244909-88244959	HIPEpiC	eye:	n/a
48	chr4:88243818-88243868	SK-N-SH_RA	brain:	n/a
49	chr4:88244142-88244192	AG09309	skin:	n/a
50	chr4:88244142-88244192	HEEpiC	esophagus:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:88275546..88276371-chr4:88386699..88387600,2	MCF-7	breast:
2	chr4:88187820..88189394-chr4:88231187..88233154,2	MCF-7	breast:
3	chr4:88224415..88227242-chr4:88231505..88233396,2	K562	blood:
4	chr4:88275401..88278298-chr4:88313681..88315567,2	K562	blood:
5	chr4:88229442..88232296-chr4:88234376..88236070,2	K562	blood:
6	chr4:88216757..88219177-chr4:88220101..88221682,2	MCF-7	breast:
7	chr4:88140123..88141719-chr4:88189481..88191440,2	MCF-7	breast:
8	chr4:88242503..88244047-chr4:88248462..88250419,2	K562	blood:
9	chr4:88225793..88228433-chr4:88233021..88235909,2	MCF-7	breast:
10	chr4:88141337..88143545-chr4:88209433..88211061,2	MCF-7	breast:
11	chr4:88257535..88259344-chr4:88263879..88265710,2	K562	blood:
12	chr4:88274380..88275024-chr4:88386955..88387766,2	MCF-7	breast:
13	chr4:88226132..88228278-chr4:88229243..88230944,2	MCF-7	breast:
14	chr4:88256379..88257982-chr4:88259770..88261744,2	K562	blood:
15	chr4:88274390..88275203-chr4:88387077..88388072,3	K562	blood:
16	chr10:46970031..46970993-chr4:88194361..88194882,2	MCF-7	breast:
17	chr4:88237707..88239445-chr4:88243261..88245305,2	MCF-7	breast:
18	chr4:88141156..88144056-chr4:88277951..88279842,2	MCF-7	breast:
19	chr4:88280472..88283090-chr4:88343390..88345468,2	MCF-7	breast:
20	chr4:88216757..88219177-chr4:88220101..88221682,2	MCF-7	breast:
21	chr4:88257214..88259344-chr4:88263879..88266042,3	K562	blood:
22	chr4:88257535..88259344-chr4:88263879..88265710,2	K562	blood:
23	chr4:88242496..88244669-chr4:88248333..88250976,2	MCF-7	breast:
24	chr4:88241962..88245128-chr4:88247108..88249633,3	MCF-7	breast:
25	chr4:88226132..88228278-chr4:88229243..88230944,2	MCF-7	breast:
26	chr4:88132419..88135036-chr4:88191101..88193543,2	K562	blood:
27	chr4:88274412..88275303-chr4:88464991..88465582,2	MCF-7	breast:
28	chr4:88225790..88227669-chr4:88236912..88239118,2	MCF-7	breast:
29	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:
30	chr4:88229442..88232296-chr4:88234376..88236070,2	K562	blood:
31	chr4:88161337..88162947-chr4:88190418..88192890,2	K562	blood:
32	chr4:88257214..88259344-chr4:88263879..88266042,3	K562	blood:
33	chr4:88225793..88228433-chr4:88233021..88235909,2	MCF-7	breast:
34	chr4:88177898..88180525-chr4:88185534..88188362,3	K562	blood:
35	chr4:88288892..88291753-chr4:88294244..88297136,3	MCF-7	breast:
36	chr4:88225790..88227669-chr4:88236912..88239118,2	MCF-7	breast:
37	chr4:88190901..88191577-chr4:88769909..88770797,2	MCF-7	breast:
38	chr4:88256379..88257982-chr4:88259770..88261744,2	K562	blood:
39	chr3:195808128..195810426-chr4:88262608..88264108,2	K562	blood:
40	chr4:88294120..88296895-chr4:88310582..88312667,2	K562	blood:
41	chr4:88224415..88227242-chr4:88231505..88233396,2	K562	blood:
42	chr4:88183411..88186658-chr4:88187924..88190841,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AFF1-1	chr4:88198781-88198895	XLOC_003601
2	lnc-NUDT9-1	chr4:88273499-88273744	expReg_chr4_4651_+
3	lnc-AFF1-1	chr4:88192262-88192330	XLOC_003601
4	lnc-AFF1-1	chr4:88199776-88199855	XLOC_003601
5	lnc-HSD17B13-1	chr4:88183083-88183251	XLOC_004009
6	lnc-HSD17B13-1	chr4:88187887-88187974	XLOC_004009

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5705	chr4:88221657-88221679	MIMAT0022499

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HSD17B11	hsa-miR-1	chr4:88257896-88257914

Variant related genes	Relation type
ENSG00000255723	TF binding region
HSD17B13	TF binding region
MIR5705	TF binding region
ENSG00000250572	TF binding region
HSD17B11	TF binding region
ENSG00000255723	CpG island
HSD17B13	CpG island
MIR5705	CpG island
ENSG00000250572	CpG island
HSD17B11	CpG island
ENSG00000170502	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000198189	chromatin interactions
ENSG00000204176	chromatin interactions
ENSG00000145332	chromatin interactions
ENSG00000170509	chromatin interactions
ENSG00000250572	chromatin interactions
CREG1	miRNA target sites
CREBZF	miRNA target sites

Extended variants
information (count: 4104 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:4104 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371843904	chr4:88173600-88173601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11439823	chr4:88173601-88173602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534530344	chr4:88173615-88173616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201555551	chr4:88173618-88173619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556108655	chr4:88173626-88173627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574358461	chr4:88173634-88173635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544228737	chr4:88173672-88173673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7656630	chr4:88173692-88173693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569920799	chr4:88173773-88173774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577703957	chr4:88173832-88173833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545066897	chr4:88173882-88173883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375066076	chr4:88173887-88173888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200983946	chr4:88173905-88173906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138634835	chr4:88173967-88173968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537302322	chr4:88174000-88174001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189557517	chr4:88174028-88174029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560853768	chr4:88174050-88174051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149979034	chr4:88174068-88174069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550742260	chr4:88174083-88174084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572360825	chr4:88174096-88174097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181167095	chr4:88174110-88174111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186618649	chr4:88174151-88174152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534860809	chr4:88174153-88174154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62305671	chr4:88174229-88174230	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566815185	chr4:88174237-88174238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535145444	chr4:88174387-88174388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189827193	chr4:88174395-88174396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555949046	chr4:88174500-88174501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574396072	chr4:88174520-88174521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553033158	chr4:88174535-88174536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199902751	chr4:88174551-88174552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555914933	chr4:88174557-88174558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577551426	chr4:88174572-88174573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544645819	chr4:88174616-88174617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181604866	chr4:88174620-88174621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571763931	chr4:88174648-88174649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186272764	chr4:88174664-88174665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367836797	chr4:88174709-88174710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560742695	chr4:88174761-88174762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191002938	chr4:88174762-88174763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543677413	chr4:88174786-88174787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369080541	chr4:88174800-88174801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183524995	chr4:88174840-88174841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185868167	chr4:88174861-88174862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545006338	chr4:88174963-88174964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566972975	chr4:88174980-88174981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527745194	chr4:88175013-88175014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549639549	chr4:88175031-88175032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191118475	chr4:88175083-88175084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139679986	chr4:88175084-88175085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88171400-88174000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr4:88173000-88178000	Weak transcription	Brain Hippocampus Middle	brain
3	chr4:88173000-88178000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:88173000-88178200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:88173000-88178200	Weak transcription	Brain Substantia Nigra	brain
6	chr4:88177000-88177200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr4:88177000-88177600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr4:88177200-88179600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:88177600-88178200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:88178000-88179000	Enhancers	Brain Hippocampus Middle	brain
11	chr4:88178000-88179800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr4:88178200-88178800	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:88178200-88178800	Enhancers	Brain Substantia Nigra	brain
14	chr4:88178200-88179600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:88178200-88180000	Enhancers	Brain Anterior Caudate	brain
16	chr4:88178400-88178600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:88178600-88179400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:88178800-88179200	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr4:88178800-88179400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:88179000-88179400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr4:88179200-88179600	Enhancers	Brain Substantia Nigra	brain
22	chr4:88179400-88179600	Enhancers	Brain Cingulate Gyrus	brain
23	chr4:88179400-88179600	Enhancers	Brain Hippocampus Middle	brain
24	chr4:88179400-88179800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:88184600-88191400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:88185000-88186000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:88185200-88185800	Enhancers	Primary B cells from peripheral blood	blood
28	chr4:88185200-88185800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr4:88185400-88185800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr4:88185600-88186200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:88185800-88186400	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:88186200-88187600	Weak transcription	Aorta	Aorta
33	chr4:88187600-88188400	Enhancers	Aorta	Aorta
34	chr4:88187800-88189200	Enhancers	Adipose Nuclei	Adipose
35	chr4:88188000-88188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:88188000-88188400	Enhancers	Fetal Kidney	kidney
37	chr4:88188200-88188600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:88188400-88188800	Weak transcription	Fetal Kidney	kidney
39	chr4:88188600-88189400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:88188800-88189600	Enhancers	Fetal Kidney	kidney
41	chr4:88188800-88190000	Enhancers	Colon Smooth Muscle	Colon
42	chr4:88189800-88190000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
43	chr4:88190400-88190600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:88190600-88191800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:88191200-88191600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr4:88191200-88192200	Enhancers	Brain Hippocampus Middle	brain
47	chr4:88191400-88192000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:88191600-88192000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr4:88191600-88192200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr4:88191600-88192200	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links