Variant report

Variant	esv3428371
Chromosome Location	chr5:114880442-114882878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:114880322-114880976	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:114880325-114880472	K562	blood:	n/a	n/a
3	ATF1	chr5:114880294-114880673	K562	blood:	n/a	n/a
4	ATF2	chr5:114880186-114880585	GM12878	blood:	n/a	n/a
5	ATF2	chr5:114880599-114881056	GM12878	blood:	n/a	n/a
6	ATF2	chr5:114880030-114880572	GM12878	blood:	n/a	n/a
7	ATF2	chr5:114880183-114880603	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr5:114880004-114880701	GM12878	blood:	n/a	chr5:114880111-114880124 chr5:114880201-114880214 chr5:114880668-114880681 chr5:114880337-114880345 chr5:114880241-114880250 chr5:114880308-114880321
9	BCLAF1	chr5:114879959-114880653	GM12878	blood:	n/a	chr5:114880111-114880124 chr5:114880201-114880214 chr5:114880337-114880345 chr5:114880241-114880250 chr5:114880308-114880321
10	BHLHE40	chr5:114880154-114881143	GM12878	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
11	BHLHE40	chr5:114880186-114880984	K562	blood:	n/a	chr5:114880428-114880444 chr5:114880193-114880209
12	BRCA1	chr5:114880332-114880582	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr5:114880258-114880509	GM12878	blood:	n/a	n/a
14	BRCA1	chr5:114880799-114881202	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr5:114880149-114881471	HCT-116	colon:	n/a	n/a
16	CBX3	chr5:114880652-114881290	K562	blood:	n/a	n/a
17	CBX3	chr5:114880152-114881427	K562	blood:	n/a	n/a
18	CCNT2	chr5:114880049-114880961	K562	blood:	n/a	chr5:114880672-114880681
19	CEBPB	chr5:114880179-114880756	A549	lung:	n/a	n/a
20	CEBPB	chr5:114879556-114881004	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr5:114880143-114880699	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:114880256-114880891	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr5:114880257-114880618	K562	blood:	n/a	n/a
24	CEBPB	chr5:114880283-114880757	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:114880263-114880899	K562	blood:	n/a	n/a
26	CEBPB	chr5:114880299-114880607	HepG2	liver:	n/a	n/a
27	CEBPB	chr5:114880339-114880565	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:114880220-114880772	MCF-7	breast:	n/a	n/a
29	CEBPB	chr5:114880278-114880897	IMR90	lung:	n/a	n/a
30	CEBPB	chr5:114882559-114882888	IMR90	lung:	n/a	chr5:114882715-114882726
31	CEBPB	chr5:114882547-114882896	HepG2	liver:	n/a	chr5:114882715-114882726
32	CEBPB	chr5:114882543-114882877	A549	lung:	n/a	chr5:114882715-114882726
33	CEBPB	chr5:114880294-114880650	A549	lung:	n/a	n/a
34	CEBPB	chr5:114880251-114880611	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr5:114880307-114880569	A549	lung:	n/a	n/a
36	CEBPD	chr5:114880625-114880840	HepG2	liver:	n/a	n/a
37	CEBPD	chr5:114880318-114880557	HepG2	liver:	n/a	n/a
38	CEBPD	chr5:114880214-114880579	HepG2	liver:	n/a	n/a
39	CHD1	chr5:114879237-114880490	GM12878	blood:	n/a	chr5:114880351-114880361 chr5:114880127-114880137
40	CHD1	chr5:114879387-114880446	H1-hESC	embryonic stem cell:	n/a	chr5:114880351-114880361 chr5:114880127-114880137
41	CHD1	chr5:114880780-114880887	GM12878	blood:	n/a	n/a
42	CHD1	chr5:114877793-114880907	IMR90	lung:	n/a	chr5:114880673-114880683 chr5:114880351-114880361 chr5:114880127-114880137
43	CHD2	chr5:114880187-114881024	HepG2	liver:	n/a	chr5:114880673-114880683 chr5:114880351-114880361
44	CHD2	chr5:114879992-114881223	K562	blood:	n/a	chr5:114880673-114880683 chr5:114880351-114880361 chr5:114880127-114880137
45	CHD2	chr5:114880028-114880737	GM12878	blood:	n/a	chr5:114880673-114880683 chr5:114880351-114880361 chr5:114880127-114880137
46	CHD2	chr5:114879581-114881020	Hela-S3	cervix:	n/a	chr5:114880673-114880683 chr5:114880351-114880361 chr5:114880127-114880137
47	CHD2	chr5:114880245-114881063	H1-hESC	embryonic stem cell:	n/a	chr5:114880673-114880683 chr5:114880351-114880361
48	CREB1	chr5:114880142-114880949	K562	blood:	n/a	n/a
49	CREB1	chr5:114880098-114880956	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr5:114880020-114880876	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:114880667-114880717	ovcar-3	ovarian:	n/a
2	chr5:114880667-114880717	Hepatocyte	liver:	n/a
3	chr5:114880745-114880795	HCM	heart:	n/a
4	chr5:114880745-114880795	U87	brain:	n/a
5	chr5:114880667-114880717	HUVEC	blood vessel:	n/a
6	chr5:114880745-114880795	HRPEpiC	eye:	n/a
7	chr5:114880771-114880821	HCF	heart:	n/a
8	chr5:114880745-114880795	Hela-S3	cervix:	n/a
9	chr5:114880687-114880737	HPAEpiC	pulmonary alveolar:	n/a
10	chr5:114880715-114880765	AG04449	skin:	fetal
11	chr5:114880771-114880821	GM06990	blood:	n/a
12	chr5:114880667-114880717	SK-N-SH	brain:	n/a
13	chr5:114880508-114880558	Hepatocyte	liver:	n/a
14	chr5:114880687-114880737	MCF10A-Er-Src	breast:	n/a
15	chr5:114880667-114880717	HAEpiC	amniotic membrane:	n/a
16	chr5:114880796-114880846	HEEpiC	esophagus:	n/a
17	chr5:114880715-114880765	BE2_C	brain:	n/a
18	chr5:114880745-114880795	HEK293	kidney:	embryo
19	chr5:114880687-114880737	ovcar-3	ovarian:	n/a
20	chr5:114880508-114880558	AG10803	skin:	n/a
21	chr5:114880508-114880558	ProgFib	skin:	n/a
22	chr5:114880508-114880558	GM19239	blood:	n/a
23	chr5:114880667-114880717	AG04449	skin:	fetal
24	chr5:114880771-114880821	HRE	kidney:	n/a
25	chr5:114880667-114880717	SAEC	small airway:	n/a
26	chr5:114880508-114880558	IMR90	lung:	fetal
27	chr5:114880667-114880717	HCT-116	colon:	n/a
28	chr5:114880715-114880765	ovcar-3	ovarian:	n/a
29	chr5:114880796-114880846	MCF10A-Er-Src	breast:	n/a
30	chr5:114880508-114880558	MCF-7	breast:	n/a
31	chr5:114880745-114880795	GM12891	blood:	n/a
32	chr5:114880715-114880765	NB4	blood:	n/a
33	chr5:114880715-114880765	Hepatocyte	liver:	n/a
34	chr5:114880796-114880846	GM19239	blood:	n/a
35	chr5:114880687-114880737	HMEC	breast:	n/a
36	chr5:114880508-114880558	Hela-S3	cervix:	n/a
37	chr5:114880667-114880717	PANC-1	pancreas:	n/a
38	chr5:114880715-114880765	HUVEC	blood vessel:	n/a
39	chr5:114880745-114880795	MCF10A-Er-Src	breast:	n/a
40	chr5:114880667-114880717	GM12878	blood:	n/a
41	chr5:114880771-114880821	Hela-S3	cervix:	n/a
42	chr5:114880771-114880821	A549	lung:	n/a
43	chr5:114880796-114880846	HRE	kidney:	n/a
44	chr5:114880771-114880821	HRCEpiC	kidney:	n/a
45	chr5:114880667-114880717	HCF	heart:	n/a
46	chr5:114880687-114880737	HL-60	blood:	n/a
47	chr5:114880667-114880717	LNCaP	prostate:	n/a
48	chr5:114880745-114880795	SK-N-MC	brain:	n/a
49	chr5:114880796-114880846	PANC-1	pancreas:	n/a
50	chr5:114880667-114880717	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114764740..114766538-chr5:114878918..114880582,2	MCF-7	breast:
2	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:
3	chr17:46048149..46048819-chr5:114879946..114880664,2	NB4	blood:
4	chr5:114879958..114880695-chr6:13574785..13575475,2	Hela-S3	cervix:
5	chr5:114880215..114881730-chr5:114959993..114961960,2	K562	blood:

Variant related genes	Relation type
FEM1C	TF binding region
FEM1C	CpG island
ENSG00000145782	chromatin interactions
ENSG00000108465	chromatin interactions
ENSG00000251201	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000243414	chromatin interactions
ENSG00000124523	chromatin interactions
ENSG00000134970	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556568974	chr5:114880452-114880453	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs542385584	chr5:114880475-114880476	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs556056295	chr5:114880490-114880491	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs576218324	chr5:114880558-114880559	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs545387406	chr5:114880580-114880581	Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs13177180	chr5:114880593-114880594	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56110877	chr5:114880613-114880614	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs527825294	chr5:114880641-114880642	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs541520237	chr5:114880653-114880654	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs202173828	chr5:114880670-114880671	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs557740133	chr5:114880695-114880696	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs572997659	chr5:114880703-114880704	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs6868540	chr5:114880773-114880774	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185085170	chr5:114880809-114880810	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs190575960	chr5:114880899-114880900	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs57829926	chr5:114880918-114880919	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs180984418	chr5:114881008-114881009	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs375268276	chr5:114881030-114881031	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs553472771	chr5:114881185-114881186	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs141027164	chr5:114881189-114881190	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs536052695	chr5:114881194-114881195	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs556037405	chr5:114881200-114881201	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs576330997	chr5:114881215-114881216	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs544964812	chr5:114881257-114881258	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs575013767	chr5:114881263-114881264	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs150248691	chr5:114881273-114881274	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs557919191	chr5:114881274-114881275	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs72817112	chr5:114881299-114881300	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185976923	chr5:114881322-114881323	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs138422563	chr5:114881334-114881335	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs544079008	chr5:114881341-114881342	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs577850427	chr5:114881363-114881364	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs532878172	chr5:114881372-114881373	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs552576288	chr5:114881382-114881383	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs376144772	chr5:114881387-114881388	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs189647578	chr5:114881399-114881400	ZNF genes & repeats Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs75422580	chr5:114881408-114881409	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs546949667	chr5:114881410-114881411	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs148852051	chr5:114881425-114881426	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115854179	chr5:114881437-114881438	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs556362114	chr5:114881466-114881467	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs569735816	chr5:114881498-114881499	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs145241186	chr5:114881500-114881501	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs72817114	chr5:114881520-114881521	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs256959	chr5:114881530-114881531	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs535024954	chr5:114881537-114881538	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs572159970	chr5:114881553-114881554	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs139901093	chr5:114881557-114881558	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs181052508	chr5:114881558-114881559	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs137905967	chr5:114881581-114881582	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
3	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:114876200-114881000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114876200-114881000	Active TSS	HMEC	breast
6	chr5:114876600-114880800	Active TSS	Fetal Intestine Small	intestine
7	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
8	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
9	chr5:114877400-114880600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr5:114877400-114881000	Active TSS	Colon Smooth Muscle	Colon
11	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr5:114877600-114881200	Active TSS	HSMM	muscle
13	chr5:114878000-114881000	Active TSS	Stomach Mucosa	stomach
14	chr5:114878600-114880600	Active TSS	Esophagus	oesophagus
15	chr5:114878600-114881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:114878600-114881000	Active TSS	Pancreas	Pancrea
17	chr5:114878800-114881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:114878800-114881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:114879000-114880600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:114879000-114880600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr5:114879000-114880600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:114879000-114880600	Active TSS	Duodenum Mucosa	Duodenum
23	chr5:114879000-114880800	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:114879000-114880800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:114879000-114880800	Active TSS	Fetal Kidney	kidney
26	chr5:114879000-114881000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:114879000-114881000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr5:114879000-114881000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:114879000-114881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr5:114879000-114881000	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:114879000-114881000	Active TSS	Psoas Muscle	Psoas
32	chr5:114879000-114881200	Active TSS	A549	lung
33	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
34	chr5:114879200-114880600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:114879200-114880600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:114879200-114880600	Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr5:114879200-114880600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:114879200-114880600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr5:114879200-114880800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:114879200-114880800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:114879200-114880800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr5:114879200-114880800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:114879200-114880800	Active TSS	Aorta	Aorta
44	chr5:114879200-114880800	Active TSS	Brain Cingulate Gyrus	brain
45	chr5:114879200-114880800	Active TSS	Fetal Muscle Trunk	muscle
46	chr5:114879200-114880800	Active TSS	Fetal Stomach	stomach
47	chr5:114879200-114880800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr5:114879200-114880800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr5:114879200-114880800	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr5:114879200-114880800	Active TSS	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links