Variant report

Variant	nsv1012899
Chromosome Location	chr4:69288126-69540013
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	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69386831-69387059	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69489457-69489609	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69524230-69524826	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:69479543-69479775	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:69464978-69465269	HepG2	liver:	n/a	n/a
7	ARID3A	chr4:69521827-69522720	HepG2	liver:	n/a	n/a
8	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
10	BATF	chr4:69523003-69523215	GM12878	blood:	n/a	n/a
11	BATF	chr4:69441348-69441590	GM12878	blood:	n/a	n/a
12	BATF	chr4:69441350-69441539	GM12878	blood:	n/a	n/a
13	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
14	BATF	chr4:69522977-69523278	GM12878	blood:	n/a	n/a
15	BATF	chr4:69419767-69419937	GM12878	blood:	n/a	n/a
16	BATF	chr4:69538989-69539205	GM12878	blood:	n/a	n/a
17	BCL11A	chr4:69523069-69523272	GM12878	blood:	n/a	n/a
18	BCL11A	chr4:69419791-69419969	GM12878	blood:	n/a	n/a
19	BCL3	chr4:69536262-69536632	A549	lung:	n/a	n/a
20	BHLHE40	chr4:69364150-69364589	GM12878	blood:	n/a	n/a
21	BHLHE40	chr4:69305163-69305286	GM12878	blood:	n/a	n/a
22	BHLHE40	chr4:69522248-69522562	GM12878	blood:	n/a	n/a
23	BHLHE40	chr4:69435323-69435604	K562	blood:	n/a	n/a
24	CCNT2	chr4:69328625-69328750	K562	blood:	n/a	n/a
25	CEBPB	chr4:69447506-69447748	A549	lung:	n/a	n/a
26	CEBPB	chr4:69321591-69322194	MCF-7	breast:	n/a	n/a
27	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
28	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
29	CEBPB	chr4:69463247-69463520	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:69325378-69325503	K562	blood:	n/a	n/a
31	CEBPB	chr4:69536174-69536504	A549	lung:	n/a	chr4:69536341-69536354
32	CEBPB	chr4:69312976-69313282	MCF-7	breast:	n/a	n/a
33	CEBPB	chr4:69447436-69447754	Hela-S3	cervix:	n/a	n/a
34	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
35	CEBPB	chr4:69462434-69462560	A549	lung:	n/a	chr4:69462483-69462500
36	CEBPB	chr4:69482880-69482916	A549	lung:	n/a	n/a
37	CEBPB	chr4:69327525-69327817	MCF-7	breast:	n/a	n/a
38	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
39	CEBPB	chr4:69471903-69472154	HepG2	liver:	n/a	n/a
40	CEBPB	chr4:69530297-69530431	A549	lung:	n/a	chr4:69530340-69530351
41	CEBPB	chr4:69310875-69311174	IMR90	lung:	n/a	chr4:69310996-69311009 chr4:69310996-69311009 chr4:69310996-69311007
42	CEBPB	chr4:69419232-69419353	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:69536277-69536474	HepG2	liver:	n/a	chr4:69536341-69536354
44	CEBPB	chr4:69431039-69431053	HepG2	liver:	n/a	chr4:69431039-69431050 chr4:69431041-69431050
45	CEBPB	chr4:69447453-69447718	K562	blood:	n/a	n/a
46	CEBPB	chr4:69308568-69308582	HepG2	liver:	n/a	n/a
47	CEBPB	chr4:69536198-69536502	MCF-7	breast:	n/a	chr4:69536341-69536354
48	CEBPB	chr4:69530299-69530470	HepG2	liver:	n/a	chr4:69530340-69530351
49	CEBPB	chr4:69536204-69536567	A549	lung:	n/a	chr4:69536341-69536354
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69514031-69514081	ECC-1	luminal epithelium:	n/a
2	chr4:69313197-69313247	PFSK-1	brain:	n/a
3	chr4:69435250-69435300	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:69537806-69537856	GM06990	blood:	n/a
5	chr4:69537826-69537876	ovcar-3	ovarian:	n/a
6	chr4:69340916-69340966	AG09309	skin:	n/a
7	chr4:69434475-69434525	HRPEpiC	eye:	n/a
8	chr4:69435601-69435651	MCF10A-Er-Src	breast:	n/a
9	chr4:69340916-69340966	A549	lung:	n/a
10	chr4:69536319-69536369	HCF	heart:	n/a
11	chr4:69313197-69313247	MCF-7	breast:	n/a
12	chr4:69340916-69340966	GM19239	blood:	n/a
13	chr4:69434475-69434525	GM12878	blood:	n/a
14	chr4:69435250-69435300	ovcar-3	ovarian:	n/a
15	chr4:69522639-69522689	NHBE	bronchial:	n/a
16	chr4:69340916-69340966	AG10803	skin:	n/a
17	chr4:69312104-69312154	SKMC	muscle:	n/a
18	chr4:69537589-69537639	BJ	skin:	n/a
19	chr4:69536319-69536369	PFSK-1	brain:	n/a
20	chr4:69381368-69381418	HIPEpiC	eye:	n/a
21	chr4:69434475-69434525	HUVEC	blood vessel:	n/a
22	chr4:69435250-69435300	SK-N-MC	brain:	n/a
23	chr4:69340916-69340966	HepG2	liver:	n/a
24	chr4:69435593-69435643	A549	lung:	n/a
25	chr4:69434475-69434525	HRE	kidney:	n/a
26	chr4:69435601-69435651	BE2_C	brain:	n/a
27	chr4:69537589-69537639	HRE	kidney:	n/a
28	chr4:69312104-69312154	HCT-116	colon:	n/a
29	chr4:69340916-69340966	MCF-7	breast:	n/a
30	chr4:69340916-69340966	H1-hESC	embryonic stem cell:	embryo
31	chr4:69537826-69537876	NT2-D1	testis:	n/a
32	chr4:69434475-69434525	PFSK-1	brain:	n/a
33	chr4:69522639-69522689	GM12891	blood:	n/a
34	chr4:69435601-69435651	K562	blood:	n/a
35	chr4:69537589-69537639	SAEC	small airway:	n/a
36	chr4:69313197-69313247	HAEpiC	amniotic membrane:	n/a
37	chr4:69537589-69537639	HepG2	liver:	n/a
38	chr4:69522639-69522689	HIPEpiC	eye:	n/a
39	chr4:69312104-69312154	SK-N-SH	brain:	n/a
40	chr4:69537589-69537639	NB4	blood:	n/a
41	chr4:69312104-69312154	Hela-S3	cervix:	n/a
42	chr4:69537826-69537876	NB4	blood:	n/a
43	chr4:69537589-69537639	GM06990	blood:	n/a
44	chr4:69522639-69522689	HRE	kidney:	n/a
45	chr4:69537826-69537876	HRPEpiC	eye:	n/a
46	chr4:69522639-69522689	HEK293	kidney:	embryo
47	chr4:69435250-69435300	PANC-1	pancreas:	n/a
48	chr4:69435593-69435643	RPTEC	kidney:	n/a
49	chr4:69312514-69312564	NH-A	brain:	n/a
50	chr4:69434475-69434525	HRCEpiC	kidney:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMPRSS11E-2	chr4:69480137-69480731	NONHSAT096735
2	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733
3	lnc-UGT2B15-2	chr4:69492565-69492700	NONHSAT096737
4	lnc-UGT2B15-2	chr4:69493903-69494617	NONHSAT096737
5	lnc-UGT2B15-3	chr4:69481111-69481855	NONHSAT096736
6	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733

Variant related genes	Relation type
ENSG00000249472	TF binding region
ENSG00000251074	TF binding region
TMPRSS11E	TF binding region
ENSG00000251101	TF binding region
UGT2B17	TF binding region
UGT2B15	TF binding region
UGT2B29P	TF binding region
ENSG00000249472	CpG island
ENSG00000251074	CpG island
TMPRSS11E	CpG island
ENSG00000251101	CpG island
UGT2B17	CpG island
UGT2B15	CpG island
UGT2B29P	CpG island
ENSG00000087128	chromatin interactions
ENSG00000083896	chromatin interactions
ENSG00000249985	chromatin interactions
ENSG00000272626	chromatin interactions

Extended variants
information (count: 7750 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7750 , 50 per page) page: 1 2 3 4 5 6 7 ... 155

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370503478	chr4:69288132-69288133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs137972571	chr4:69288140-69288141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140714289	chr4:69288143-69288144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150101010	chr4:69288145-69288146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138377149	chr4:69288150-69288151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533373424	chr4:69288172-69288173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567523529	chr4:69288177-69288178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149333237	chr4:69288187-69288188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183223012	chr4:69288195-69288196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187137381	chr4:69288196-69288197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146266426	chr4:69288204-69288205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192090658	chr4:69288215-69288216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553520175	chr4:69288222-69288223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372041786	chr4:69288223-69288224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538301206	chr4:69288244-69288245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183017596	chr4:69288248-69288249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138049913	chr4:69288262-69288263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533986693	chr4:69288308-69288309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142525060	chr4:69288320-69288321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187560931	chr4:69288324-69288325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193254102	chr4:69288338-69288339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184178484	chr4:69288377-69288378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189517719	chr4:69288415-69288416	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192453569	chr4:69288416-69288417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564643275	chr4:69288425-69288426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375689210	chr4:69288433-69288434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184078672	chr4:69288444-69288445	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560339248	chr4:69288525-69288526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529574111	chr4:69288555-69288556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28809873	chr4:69288570-69288571	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528444613	chr4:69288608-69288609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569203982	chr4:69288671-69288672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370123945	chr4:69288707-69288708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80181442	chr4:69288733-69288734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551857624	chr4:69288749-69288750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571759553	chr4:69288750-69288751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28773306	chr4:69288806-69288807	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547593628	chr4:69288860-69288861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567384609	chr4:69288876-69288877	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536514188	chr4:69288884-69288885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181473923	chr4:69288918-69288919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372174035	chr4:69288928-69288929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186110256	chr4:69288933-69288934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538259246	chr4:69288945-69288946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558173144	chr4:69288972-69288973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375492025	chr4:69288973-69288974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571782591	chr4:69289006-69289007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540758655	chr4:69289025-69289026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190275771	chr4:69289078-69289079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201018414	chr4:69289109-69289110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:562 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69280800-69289600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:69288000-69291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:69291600-69292400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69292000-69292200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:69292800-69293200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:69293000-69295800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:69295600-69296000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:69295800-69296600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:69295800-69296600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:69296000-69296400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:69296000-69296400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:69296000-69296600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:69296400-69300400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:69296400-69300600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:69296600-69312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:69298200-69298800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr4:69298800-69300400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:69299400-69299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:69299400-69299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:69299800-69300200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:69300200-69303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:69300400-69301000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:69300400-69301800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:69300400-69302800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:69300400-69303400	Enhancers	Primary T cells from cord blood	blood
26	chr4:69300400-69303400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr4:69300400-69303400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr4:69300600-69300800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:69300600-69300800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:69300600-69301000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:69300600-69302600	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr4:69300600-69302800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:69300600-69303400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr4:69300600-69303400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:69300600-69303400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:69300800-69301800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:69301000-69305800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:69301800-69302000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr4:69301800-69303200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:69301800-69303400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr4:69301800-69307400	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:69302000-69302200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr4:69302200-69302400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:69302400-69303400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:69302600-69304600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr4:69302800-69303200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:69302800-69304800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:69302800-69312000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:69303200-69303400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr4:69303200-69303400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links