Variant report

Variant	nsv1010332
Chromosome Location	chr4:69284579-69457926
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	chr4:69386831-69387059	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
3	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
5	BATF	chr4:69419767-69419937	GM12878	blood:	n/a	n/a
6	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
7	BATF	chr4:69441348-69441590	GM12878	blood:	n/a	n/a
8	BATF	chr4:69441350-69441539	GM12878	blood:	n/a	n/a
9	BCL11A	chr4:69419791-69419969	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:69364150-69364589	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:69305163-69305286	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:69435323-69435604	K562	blood:	n/a	n/a
13	CCNT2	chr4:69328625-69328750	K562	blood:	n/a	n/a
14	CEBPB	chr4:69327525-69327817	MCF-7	breast:	n/a	n/a
15	CEBPB	chr4:69447453-69447718	K562	blood:	n/a	n/a
16	CEBPB	chr4:69300033-69300365	HepG2	liver:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
17	CEBPB	chr4:69325378-69325503	K562	blood:	n/a	n/a
18	CEBPB	chr4:69321591-69322194	MCF-7	breast:	n/a	n/a
19	CEBPB	chr4:69300021-69300356	K562	blood:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
20	CEBPB	chr4:69312976-69313282	MCF-7	breast:	n/a	n/a
21	CEBPB	chr4:69308568-69308582	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:69300055-69300288	A549	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
23	CEBPB	chr4:69431039-69431053	HepG2	liver:	n/a	chr4:69431039-69431050 chr4:69431041-69431050
24	CEBPB	chr4:69310875-69311174	IMR90	lung:	n/a	chr4:69310996-69311009 chr4:69310996-69311009 chr4:69310996-69311007
25	CEBPB	chr4:69447436-69447754	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr4:69300028-69300381	IMR90	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
27	CEBPB	chr4:69321712-69322175	MCF-7	breast:	n/a	n/a
28	CEBPB	chr4:69447506-69447748	A549	lung:	n/a	n/a
29	CEBPB	chr4:69300096-69300253	H1-hESC	embryonic stem cell:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
30	CEBPB	chr4:69419232-69419353	HepG2	liver:	n/a	n/a
31	CTCF	chr4:69443340-69443490	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr4:69443391-69443545	GM12891	blood:	n/a	n/a
33	CTCF	chr4:69364162-69364469	HUVEC	blood vessel:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
34	CTCF	chr4:69443400-69443550	GM12873	blood:	n/a	n/a
35	CTCF	chr4:69443463-69443531	MCF-7	breast:	n/a	n/a
36	CTCF	chr4:69364252-69364415	A549	lung:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
37	CTCF	chr4:69364220-69364370	HL-60	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
38	CTCF	chr4:69418635-69418772	HepG2	liver:	n/a	n/a
39	CTCF	chr4:69434820-69434970	GM12864	blood:	n/a	n/a
40	CTCF	chr4:69434845-69435046	GM19239	blood:	n/a	n/a
41	CTCF	chr4:69364220-69364370	GM12873	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
42	CTCF	chr4:69384731-69384849	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr4:69364228-69364431	ProgFib	skin:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
44	CTCF	chr4:69364128-69364481	ECC-1	luminal epithelium:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
45	CTCF	chr4:69364240-69364390	GM12875	blood:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
46	CTCF	chr4:69443460-69443610	GM12872	blood:	n/a	n/a
47	CTCF	chr4:69443420-69443570	SAEC	small airway:	n/a	n/a
48	CTCF	chr4:69364260-69364410	SK-N-SH_RA	brain:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
49	CTCF	chr4:69364212-69364426	LNCaP	prostate:	n/a	chr4:69364312-69364333 chr4:69364310-69364328 chr4:69364311-69364327
50	CTCF	chr4:69432180-69432330	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69434475-69434525	PrEC	prostate:	n/a
2	chr4:69340916-69340966	NHBE	bronchial:	n/a
3	chr4:69340916-69340966	IMR90	lung:	fetal
4	chr4:69313197-69313247	HepG2	liver:	n/a
5	chr4:69381368-69381418	GM06990	blood:	n/a
6	chr4:69434475-69434525	HMEC	breast:	n/a
7	chr4:69340916-69340966	AG09309	skin:	n/a
8	chr4:69340916-69340966	GM06990	blood:	n/a
9	chr4:69434475-69434525	T-47D	breast:	n/a
10	chr4:69381368-69381418	PrEC	prostate:	n/a
11	chr4:69312104-69312154	HRPEpiC	eye:	n/a
12	chr4:69312514-69312564	SK-N-SH	brain:	n/a
13	chr4:69435601-69435651	HepG2	liver:	n/a
14	chr4:69355121-69355171	GM19239	blood:	n/a
15	chr4:69313197-69313247	PANC-1	pancreas:	n/a
16	chr4:69340916-69340966	HL-60	blood:	n/a
17	chr4:69434475-69434525	NB4	blood:	n/a
18	chr4:69312514-69312564	BE2_C	brain:	n/a
19	chr4:69340916-69340966	SK-N-MC	brain:	n/a
20	chr4:69313197-69313247	U87	brain:	n/a
21	chr4:69312514-69312564	GM12892	blood:	n/a
22	chr4:69313197-69313247	HCT-116	colon:	n/a
23	chr4:69435593-69435643	SAEC	small airway:	n/a
24	chr4:69312104-69312154	CMK	blood:	n/a
25	chr4:69340916-69340966	ovcar-3	ovarian:	n/a
26	chr4:69312104-69312154	HepG2	liver:	n/a
27	chr4:69340916-69340966	MCF-7	breast:	n/a
28	chr4:69435593-69435643	HCF	heart:	n/a
29	chr4:69435250-69435300	PrEC	prostate:	n/a
30	chr4:69435250-69435300	AG09309	skin:	n/a
31	chr4:69312104-69312154	U87	brain:	n/a
32	chr4:69355121-69355171	HNPCEpiC	eye:	n/a
33	chr4:69340916-69340966	HCF	heart:	n/a
34	chr4:69434475-69434525	SK-N-MC	brain:	n/a
35	chr4:69312514-69312564	AG10803	skin:	n/a
36	chr4:69435250-69435300	PANC-1	pancreas:	n/a
37	chr4:69435601-69435651	NHBE	bronchial:	n/a
38	chr4:69313197-69313247	HUVEC	blood vessel:	n/a
39	chr4:69435250-69435300	MCF-7	breast:	n/a
40	chr4:69340916-69340966	HRE	kidney:	n/a
41	chr4:69312104-69312154	PANC-1	pancreas:	n/a
42	chr4:69312104-69312154	AG04450	lung:	fetal
43	chr4:69435250-69435300	GM19239	blood:	n/a
44	chr4:69435601-69435651	LNCaP	prostate:	n/a
45	chr4:69435601-69435651	HPAEpiC	pulmonary alveolar:	n/a
46	chr4:69312514-69312564	AoSMC	blood vessel:	n/a
47	chr4:69435593-69435643	HEK293	kidney:	embryo
48	chr4:69434475-69434525	HPAEpiC	pulmonary alveolar:	n/a
49	chr4:69435601-69435651	SK-N-SH	brain:	n/a
50	chr4:69381368-69381418	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:69215797..69217317-chr4:69361139..69363891,2	MCF-7	breast:
2	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
3	chr4:69362843..69365661-chr4:69770776..69774163,4	MCF-7	breast:
4	chr4:69317417..69319881-chr4:69327468..69329389,2	MCF-7	breast:
5	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
6	chr4:69308561..69313812-chr4:69314832..69320961,6	K562	blood:
7	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
8	chr4:69313083..69315969-chr4:69334821..69336429,2	MCF-7	breast:
9	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
10	chr4:69319066..69321050-chr4:69325892..69327547,2	MCF-7	breast:
11	chr4:69375140..69375898-chr4:69492301..69492816,2	MCF-7	breast:
12	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
13	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
14	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
15	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
16	chr4:69235222..69236888-chr4:69330787..69333108,2	MCF-7	breast:
17	chr4:69326187..69328959-chr4:69331153..69333884,3	MCF-7	breast:
18	chr4:69311298..69314792-chr4:69316366..69319525,5	MCF-7	breast:
19	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
20	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733
2	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733

Variant related genes	Relation type
TMPRSS11E	TF binding region
UGT2B17	TF binding region
UGT2B29P	TF binding region
TMPRSS11E	CpG island
UGT2B17	CpG island
UGT2B29P	CpG island
ENSG00000272626	chromatin interactions
ENSG00000249985	chromatin interactions
ENSG00000087128	chromatin interactions
ENSG00000083896	chromatin interactions

Extended variants
information (count: 5276 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:5276 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543306068	chr4:69284589-69284590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58500579	chr4:69284599-69284600	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545655118	chr4:69284613-69284614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191577447	chr4:69284628-69284629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149708942	chr4:69284634-69284635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554730419	chr4:69284646-69284647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528699213	chr4:69284652-69284653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145764066	chr4:69284693-69284694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60942202	chr4:69284750-69284751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59586015	chr4:69284771-69284772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146557688	chr4:69284787-69284788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141197151	chr4:69284791-69284792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552405809	chr4:69284794-69284795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181493106	chr4:69284806-69284807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143404932	chr4:69284826-69284827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554120688	chr4:69284828-69284829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574129432	chr4:69284837-69284838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35224077	chr4:69284840-69284841	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556802323	chr4:69284859-69284860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112186704	chr4:69284881-69284882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574580293	chr4:69284893-69284894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576534028	chr4:69284897-69284898	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545282550	chr4:69284902-69284903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560467331	chr4:69284907-69284908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569930071	chr4:69284918-69284919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572774990	chr4:69285022-69285023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186970743	chr4:69285023-69285024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190920649	chr4:69285064-69285065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530059787	chr4:69285092-69285093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58870478	chr4:69285093-69285094	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150443225	chr4:69285117-69285118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183444972	chr4:69285163-69285164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188026437	chr4:69285181-69285182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565566042	chr4:69285185-69285186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551028810	chr4:69285186-69285187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534589709	chr4:69285187-69285188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548095264	chr4:69285201-69285202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34458313	chr4:69285239-69285240	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536646859	chr4:69285270-69285271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189754095	chr4:69285328-69285329	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183016834	chr4:69285334-69285335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142772543	chr4:69285362-69285363	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543889546	chr4:69285371-69285372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559175916	chr4:69285436-69285437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572714175	chr4:69285588-69285589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187824864	chr4:69285613-69285614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372982166	chr4:69285614-69285615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574732754	chr4:69285638-69285639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370635876	chr4:69285662-69285663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543441732	chr4:69285679-69285680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Multiple myeloma	16616336	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69276800-69284600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:69280000-69286000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:69280800-69289600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:69283400-69288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr4:69283400-69288000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr4:69284200-69285000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:69284600-69287000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr4:69284600-69288000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:69285000-69287800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr4:69285000-69288000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr4:69285400-69286800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr4:69285600-69286000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:69286000-69286400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:69286000-69286400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:69286000-69287400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
16	chr4:69287000-69288000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:69288000-69291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:69291600-69292400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:69292000-69292200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:69292800-69293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:69293000-69295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:69295600-69296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:69295800-69296600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:69295800-69296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:69296000-69296400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:69296000-69296400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr4:69296000-69296600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:69296400-69300400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:69296400-69300600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:69296600-69312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr4:69298200-69298800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr4:69298800-69300400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:69299400-69299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:69299400-69299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:69299800-69300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:69300200-69303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:69300400-69301000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:69300400-69301800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:69300400-69302800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr4:69300400-69303400	Enhancers	Primary T cells from cord blood	blood
41	chr4:69300400-69303400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:69300400-69303400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:69300600-69300800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:69300600-69300800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:69300600-69301000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:69300600-69302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr4:69300600-69302800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr4:69300600-69303400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr4:69300600-69303400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr4:69300600-69303400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links