Variant report

Variant	nsv980172
Chromosome Location	chr4:187814588-187819775
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	BHLHE40	chr4:187814906-187815103	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:187815245-187815445	HepG2	liver:	n/a	n/a
3	MAFF	chr4:187814830-187815115	HepG2	liver:	n/a	chr4:187814895-187814913
4	MAFK	chr4:187814716-187814912	HepG2	liver:	n/a	chr4:187814901-187814912 chr4:187814896-187814911 chr4:187814901-187814912
5	MAFK	chr4:187814819-187815216	HepG2	liver:	n/a	chr4:187814901-187814912 chr4:187814896-187814911 chr4:187814901-187814912
6	POLR2A	chr4:187814781-187814922	K562	blood:	n/a	n/a
7	POLR2A	chr4:187817113-187817313	K562	blood:	n/a	n/a
8	POLR2A	chr4:187815119-187815299	K562	blood:	n/a	n/a
9	ZMIZ1	chr4:187816407-187816483	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187810441..187812946-chr4:187817436..187820166,2	K562	blood:
2	chr4:187674672..187677224-chr4:187814028..187816446,2	K562	blood:

Variant related genes	Relation type
MRPS36P2	TF binding region
ENSG00000250829	chromatin interactions

Extended variants
information (count: 279 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185585214	chr4:187814600-187814601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11933074	chr4:187814655-187814656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369360012	chr4:187814715-187814716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189225256	chr4:187814726-187814727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139468869	chr4:187814730-187814731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559938629	chr4:187814745-187814746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573601112	chr4:187814752-187814753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141069691	chr4:187814760-187814761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368245803	chr4:187814764-187814765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34214851	chr4:187814765-187814766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149658117	chr4:187814781-187814782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565555221	chr4:187814802-187814803	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535703509	chr4:187814823-187814824	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144505962	chr4:187814837-187814838	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192543827	chr4:187814855-187814856	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs433477	chr4:187814866-187814867	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs536166010	chr4:187814883-187814884	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529850088	chr4:187814887-187814888	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546396215	chr4:187814888-187814889	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566302895	chr4:187814923-187814924	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2114143	chr4:187815001-187815002	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs148422959	chr4:187815006-187815007	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569113322	chr4:187815023-187815024	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537089170	chr4:187815045-187815046	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576154460	chr4:187815054-187815055	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs11933236	chr4:187815056-187815057	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs114003292	chr4:187815059-187815060	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs144854577	chr4:187815066-187815067	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs576892377	chr4:187815083-187815084	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553616490	chr4:187815090-187815091	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs540833642	chr4:187815138-187815139	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183991149	chr4:187815144-187815145	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376860	chr4:187815149-187815150	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559031097	chr4:187815169-187815170	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs60774688	chr4:187815174-187815175	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs529888986	chr4:187815203-187815204	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs28410653	chr4:187815225-187815226	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116188739	chr4:187815229-187815230	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs11942401	chr4:187815250-187815251	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11947290	chr4:187815274-187815275	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181160727	chr4:187815285-187815286	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs185996893	chr4:187815299-187815300	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs552348325	chr4:187815331-187815332	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569064821	chr4:187815355-187815356	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs430549	chr4:187815359-187815360	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527314291	chr4:187815361-187815362	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs563823625	chr4:187815368-187815369	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs73025547	chr4:187815429-187815430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567627030	chr4:187815430-187815431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190154123	chr4:187815465-187815466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187808200-187821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187811200-187821400	Weak transcription	K562	blood
3	chr4:187811600-187816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187813200-187821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:187814800-187815200	Bivalent/Poised TSS	HepG2	liver
6	chr4:187815200-187815400	Bivalent Enhancer	HepG2	liver
7	chr4:187816200-187816400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187816400-187829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:187818400-187818600	Enhancers	HUVEC	blood vessel
10	chr4:187818800-187821200	Weak transcription	HUVEC	blood vessel

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