Variant report

Variant	nsv947326
Chromosome Location	chr1:153340559-153352474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:73)
CpG islands
(count:489)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:73 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:153347981-153348359	A549	lung:	n/a	chr1:153348133-153348146
2	CEBPB	chr1:153347991-153348346	A549	lung:	n/a	chr1:153348133-153348146
3	CEBPB	chr1:153340967-153341167	H1-hESC	embryonic stem cell:	n/a	chr1:153341131-153341142
4	CEBPB	chr1:153347934-153348393	Hela-S3	cervix:	n/a	chr1:153348133-153348146
5	CEBPB	chr1:153341045-153341280	Hela-S3	cervix:	n/a	chr1:153341131-153341142
6	CEBPB	chr1:153340970-153341319	HepG2	liver:	n/a	chr1:153341131-153341142
7	CEBPB	chr1:153347884-153348310	A549	lung:	n/a	chr1:153348133-153348146
8	CEBPB	chr1:153347830-153348449	MCF-7	breast:	n/a	chr1:153348133-153348146
9	CEBPB	chr1:153340965-153341301	K562	blood:	n/a	chr1:153341131-153341142
10	CEBPB	chr1:153341055-153341194	K562	blood:	n/a	chr1:153341131-153341142
11	CEBPB	chr1:153347784-153348577	MCF-7	breast:	n/a	chr1:153348133-153348146
12	CEBPB	chr1:153340989-153341218	IMR90	lung:	n/a	chr1:153341131-153341142
13	CEBPB	chr1:153340975-153341274	K562	blood:	n/a	chr1:153341131-153341142
14	CEBPB	chr1:153347966-153348360	IMR90	lung:	n/a	chr1:153348133-153348146
15	CHD2	chr1:153348035-153348254	Hela-S3	cervix:	n/a	n/a
16	E2F4	chr1:153348063-153348302	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr1:153347928-153348360	Hela-S3	cervix:	n/a	n/a
18	FOS	chr1:153347957-153348347	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:153348614-153348642	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:153347877-153348363	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr1:153343863-153344192	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:153343763-153344212	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr1:153347881-153348413	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr1:153343728-153344231	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr1:153347950-153348338	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr1:153343808-153344238	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL2	chr1:153347847-153348361	MCF-7	breast:	n/a	n/a
28	FOSL2	chr1:153347871-153348319	MCF-7	breast:	n/a	n/a
29	GATA3	chr1:153342659-153342903	T-47D	breast:	n/a	n/a
30	GATA3	chr1:153347848-153348489	MCF-7	breast:	n/a	n/a
31	GATA3	chr1:153347961-153348323	T-47D	breast:	n/a	n/a
32	GATA3	chr1:153347684-153348668	MCF-7	breast:	n/a	n/a
33	GTF2F1	chr1:153348008-153348304	Hela-S3	cervix:	n/a	n/a
34	HDAC2	chr1:153347970-153348295	MCF-7	breast:	n/a	n/a
35	JUND	chr1:153347964-153348334	Hela-S3	cervix:	n/a	n/a
36	MAFK	chr1:153347934-153348216	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:153347967-153348328	Hela-S3	cervix:	n/a	n/a
38	MAX	chr1:153341195-153341391	NB4	blood:	n/a	n/a
39	MXI1	chr1:153348004-153348211	Hela-S3	cervix:	n/a	n/a
40	MYC	chr1:153347977-153348308	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr1:153343781-153344191	MCF10A-Er-Src	breast:	n/a	n/a
42	MYC	chr1:153341103-153341347	NB4	blood:	n/a	n/a
43	MYC	chr1:153343901-153344105	MCF10A-Er-Src	breast:	n/a	n/a
44	MYC	chr1:153347990-153348266	NB4	blood:	n/a	n/a
45	MYC	chr1:153347951-153348376	MCF10A-Er-Src	breast:	n/a	n/a
46	NR2F2	chr1:153347848-153348396	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:153347805-153348338	HL-60	blood:	n/a	n/a
48	POLR2A	chr1:153344089-153344595	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr1:153348104-153348277	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr1:153347968-153348253	U87	brain:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153348305-153348355	HepG2	liver:	n/a
2	chr1:153348305-153348355	HepG2	liver:	n/a
3	chr1:153351569-153351619	GM19239	blood:	n/a
4	chr1:153347819-153347869	NHDF-neo	bronchial:	n/a
5	chr1:153346191-153346241	MCF10A-Er-Src	breast:	n/a
6	chr1:153349296-153349346	HCT-116	colon:	n/a
7	chr1:153346525-153346575	HRCEpiC	kidney:	n/a
8	chr1:153352144-153352194	Jurkat	blood:	n/a
9	chr1:153349296-153349346	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:153347819-153347869	H1-hESC	embryonic stem cell:	embryo
11	chr1:153347819-153347869	MCF-7	breast:	n/a
12	chr1:153348911-153348961	GM12891	blood:	n/a
13	chr1:153346525-153346575	PANC-1	pancreas:	n/a
14	chr1:153347819-153347869	HUVEC	blood vessel:	n/a
15	chr1:153346191-153346241	Caco-2	colon:	n/a
16	chr1:153347819-153347869	BE2_C	brain:	n/a
17	chr1:153349296-153349346	BJ	skin:	n/a
18	chr1:153348305-153348355	HIPEpiC	eye:	n/a
19	chr1:153347819-153347869	T-47D	breast:	n/a
20	chr1:153351569-153351619	NHBE	bronchial:	n/a
21	chr1:153346525-153346575	HCM	heart:	n/a
22	chr1:153348305-153348355	Caco-2	colon:	n/a
23	chr1:153346525-153346575	T-47D	breast:	n/a
24	chr1:153351569-153351619	GM12878	blood:	n/a
25	chr1:153346525-153346575	MCF10A-Er-Src	breast:	n/a
26	chr1:153348305-153348355	NT2-D1	testis:	n/a
27	chr1:153351569-153351619	HCT-116	colon:	n/a
28	chr1:153348911-153348961	LNCaP	prostate:	n/a
29	chr1:153347819-153347869	AG10803	skin:	n/a
30	chr1:153346191-153346241	HepG2	liver:	n/a
31	chr1:153346191-153346241	NHBE	bronchial:	n/a
32	chr1:153352144-153352194	SKMC	muscle:	n/a
33	chr1:153346191-153346241	CMK	blood:	n/a
34	chr1:153349296-153349346	BE2_C	brain:	n/a
35	chr1:153348305-153348355	U87	brain:	n/a
36	chr1:153352144-153352194	HEEpiC	esophagus:	n/a
37	chr1:153352144-153352194	GM12878	blood:	n/a
38	chr1:153348305-153348355	ProgFib	skin:	n/a
39	chr1:153349296-153349346	SK-N-SH_RA	brain:	n/a
40	chr1:153351569-153351619	HCF	heart:	n/a
41	chr1:153352144-153352194	AG10803	skin:	n/a
42	chr1:153347819-153347869	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:153346191-153346241	ECC-1	luminal epithelium:	n/a
44	chr1:153347819-153347869	HIPEpiC	eye:	n/a
45	chr1:153349296-153349346	H1-hESC	embryonic stem cell:	embryo
46	chr1:153349296-153349346	SK-N-SH	brain:	n/a
47	chr1:153349296-153349346	GM12892	blood:	n/a
48	chr1:153348911-153348961	H1-hESC	embryonic stem cell:	embryo
49	chr1:153351569-153351619	HepG2	liver:	n/a
50	chr1:153352144-153352194	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:153342148..153344034-chr1:153456102..153458087,3	MCF-7	breast:
2	chr1:153336912..153340188-chr1:153342336..153344449,3	K562	blood:
3	chr1:153341060..153343420-chr1:153479644..153482399,2	MCF-7	breast:
4	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
5	chr1:153337289..153340188-chr1:153342949..153344683,2	K562	blood:
6	chr1:153326747..153345757-chr1:153352900..153372983,150	MCF-7	breast:

No data

Variant related genes	Relation type
S100A12	TF binding region
S100A12	CpG island
ENSG00000143546	chromatin interactions
ENSG00000224784	chromatin interactions
ENSG00000237008	chromatin interactions
ENSG00000263841	chromatin interactions

Extended variants
information (count: 518 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147374192	chr1:153340562-153340563	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs548100405	chr1:153340596-153340597	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs561905440	chr1:153340600-153340601	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs116024004	chr1:153340611-153340612	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs550685482	chr1:153340634-153340635	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs185078626	chr1:153340640-153340641	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs34216521	chr1:153340649-153340650	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372426142	chr1:153340678-153340679	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs190421755	chr1:153340747-153340748	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544870812	chr1:153340758-153340759	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs192677236	chr1:153340767-153340768	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs139586158	chr1:153340773-153340774	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs111820001	chr1:153340808-153340809	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs16835269	chr1:153340824-153340825	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs142601044	chr1:153340825-153340826	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537192659	chr1:153340835-153340836	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs375768079	chr1:153340857-153340858	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs150987764	chr1:153340978-153340979	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs184709940	chr1:153340979-153340980	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs545817754	chr1:153341002-153341003	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs201497783	chr1:153341003-153341004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs368859274	chr1:153341005-153341006	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs559289969	chr1:153341006-153341007	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573090122	chr1:153341013-153341014	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs542086538	chr1:153341039-153341040	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs188678649	chr1:153341042-153341043	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs544224315	chr1:153341083-153341084	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs530741994	chr1:153341093-153341094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs113736687	chr1:153341111-153341112	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs180755495	chr1:153341117-153341118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs533023568	chr1:153341123-153341124	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529832073	chr1:153341173-153341174	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs185367524	chr1:153341196-153341197	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs113055561	chr1:153341198-153341199	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs546778891	chr1:153341256-153341257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs548850957	chr1:153341272-153341273	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs73018429	chr1:153341275-153341276	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537657170	chr1:153341309-153341310	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs146770248	chr1:153341314-153341315	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs532379932	chr1:153341339-153341340	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs371732179	chr1:153341377-153341378	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs552177161	chr1:153341436-153341437	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs569165838	chr1:153341484-153341485	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs570629429	chr1:153341485-153341486	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs371569021	chr1:153341486-153341487	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs552978121	chr1:153341498-153341499	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs573187202	chr1:153341523-153341524	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs541817827	chr1:153341540-153341541	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs189414452	chr1:153341548-153341549	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs182505205	chr1:153341564-153341565	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Liver carcinoma	19366792	CNVD
Neuroblastoma	18923191	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153333600-153346200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:153333800-153341400	Enhancers	Placenta	Placenta
3	chr1:153335600-153341400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr1:153338200-153343200	Weak transcription	HMEC	breast
5	chr1:153338200-153343400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:153338400-153343200	Weak transcription	NHEK	skin
7	chr1:153338400-153343600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:153339600-153343000	Enhancers	Primary B cells from cord blood	blood
9	chr1:153339800-153340800	Enhancers	Esophagus	oesophagus
10	chr1:153339800-153342200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr1:153340000-153350400	Enhancers	Fetal Intestine Large	intestine
12	chr1:153340200-153340600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:153340200-153340800	Enhancers	Lung	lung
14	chr1:153340400-153340600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:153340400-153344000	Enhancers	Fetal Intestine Small	intestine
16	chr1:153340400-153349000	Weak transcription	Spleen	Spleen
17	chr1:153340600-153340800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:153340600-153341600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr1:153340800-153342200	Weak transcription	Esophagus	oesophagus
20	chr1:153340800-153343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:153341000-153341400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:153341400-153342000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr1:153341400-153347800	Weak transcription	Placenta	Placenta
24	chr1:153341800-153343200	Enhancers	Fetal Kidney	kidney
25	chr1:153342000-153342400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:153342000-153343200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:153342200-153342600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:153342200-153342600	Enhancers	Esophagus	oesophagus
29	chr1:153342400-153343200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr1:153342600-153342800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr1:153342600-153346200	Weak transcription	Esophagus	oesophagus
32	chr1:153342800-153343200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:153343200-153344600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:153343200-153344600	Enhancers	HMEC	breast
35	chr1:153343200-153344600	Enhancers	NHEK	skin
36	chr1:153343200-153344800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr1:153343200-153345800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:153343200-153347400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:153343400-153344400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:153343600-153344400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:153344000-153344400	Weak transcription	Fetal Intestine Small	intestine
42	chr1:153344400-153345600	Enhancers	Primary B cells from cord blood	blood
43	chr1:153344400-153346600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:153344400-153346800	Enhancers	Fetal Intestine Small	intestine
45	chr1:153344400-153347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:153344600-153344800	Enhancers	Primary hematopoietic stem cells	blood
47	chr1:153344600-153346400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:153344600-153346600	Weak transcription	HMEC	breast
49	chr1:153344600-153347800	Weak transcription	NHEK	skin
50	chr1:153344800-153345200	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links