Variant report

Variant	nsv1008349
Chromosome Location	chr1:152571348-152594369
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	CTCF	chr1:152580040-152580190	GM12874	blood:	n/a	chr1:152580060-152580068
2	CTCF	chr1:152591780-152591930	GM12866	blood:	n/a	n/a
3	CTCF	chr1:152590866-152590922	GM10248	blood:	n/a	n/a
4	KAP1	chr1:152591034-152591623	K562	blood:	n/a	n/a
5	MAFF	chr1:152578764-152578878	K562	blood:	n/a	n/a
6	MAFK	chr1:152594216-152594324	HepG2	liver:	n/a	n/a
7	NR3C1	chr1:152583273-152583593	A549	lung:	n/a	n/a
8	NR3C1	chr1:152583205-152583596	A549	lung:	n/a	n/a
9	NR3C1	chr1:152583279-152583524	A549	lung:	n/a	n/a
10	POLR2A	chr1:152590215-152590318	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:152584159-152584275	K562	blood:	n/a	n/a
12	POLR2A	chr1:152590555-152590709	K562	blood:	n/a	n/a
13	STAT3	chr1:152593204-152593284	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:152591625-152591757	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr1:152591950-152592085	MCF10A-Er-Src	breast:	n/a	n/a
16	ZNF143	chr1:152591276-152591588	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152580545..152582523-chr1:152584809..152586590,2	K562	blood:
2	chr1:152550535..152553138-chr1:152591146..152593497,2	K562	blood:

Variant related genes	Relation type
LCE3B	TF binding region
LCE3C	TF binding region
ENSG00000187238	chromatin interactions
ENSG00000163202	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557692799	chr1:152580590-152580591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376531442	chr1:152580603-152580604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572898909	chr1:152580608-152580609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187335548	chr1:152580639-152580640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540176093	chr1:152580652-152580653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs561533624	chr1:152580653-152580654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs371471682	chr1:152580712-152580713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573551640	chr1:152580718-152580719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141109663	chr1:152580728-152580729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs574978341	chr1:152580788-152580789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531335598	chr1:152580799-152580800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191385906	chr1:152580888-152580889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111739861	chr1:152580919-152580920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs555628490	chr1:152580926-152580927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545086448	chr1:152581068-152581069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564567310	chr1:152581173-152581174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143427776	chr1:152581195-152581196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547171071	chr1:152581363-152581364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573902946	chr1:152581440-152581441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148172852	chr1:152581515-152581516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529576683	chr1:152581523-152581524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549140896	chr1:152581534-152581535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79996405	chr1:152581559-152581560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538001584	chr1:152581562-152581563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538854516	chr1:152581634-152581635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114698796	chr1:152581641-152581642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141076274	chr1:152581729-152581730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571365370	chr1:152581734-152581735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115632140	chr1:152581770-152581771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116057194	chr1:152581779-152581780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12061441	chr1:152581842-152581843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555933188	chr1:152581966-152581967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575983239	chr1:152582037-152582038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369093657	chr1:152582141-152582142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564997241	chr1:152582147-152582148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77297172	chr1:152582189-152582190	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557083043	chr1:152582240-152582241	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs183920591	chr1:152582248-152582249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114482897	chr1:152582282-152582283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs58331468	chr1:152582350-152582351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113260822	chr1:152582369-152582370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs6668454	chr1:152582374-152582375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs569055513	chr1:152582431-152582432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150255558	chr1:152582436-152582437	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575546236	chr1:152582484-152582485	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551437665	chr1:152582499-152582500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79601595	chr1:152582518-152582519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534014022	chr1:152582520-152582521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192416988	chr1:152583235-152583236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs542812487	chr1:152583239-152583240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	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
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
Breast cancer	21611746	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	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
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152591000-152592600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152591000-152592600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr1:152592600-152594600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:152592600-152595200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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