Variant report

Variant	esv3436739
Chromosome Location	chr4:147891527-147894075
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	POLR2A	chr4:147892953-147893716	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:147893029-147893775	H1-neurons	neurons:	n/a	n/a
3	STAT3	chr4:147893398-147893457	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147891557..147893991-chr4:148019262..148022234,2	K562	blood:

Variant related genes	Relation type
ENSG00000248346	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561403752	chr4:147893009-147893010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561767315	chr4:147893033-147893034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs541303320	chr4:147893044-147893045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551328605	chr4:147893060-147893061	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571176123	chr4:147893079-147893080	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs78090635	chr4:147893081-147893082	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547174585	chr4:147893138-147893139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs566811041	chr4:147893243-147893244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535985659	chr4:147893309-147893310	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs547562701	chr4:147893318-147893319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs555474429	chr4:147893346-147893347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114797861	chr4:147893371-147893372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs116022697	chr4:147893445-147893446	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs141922239	chr4:147893465-147893466	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111582446	chr4:147893516-147893517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs146092620	chr4:147893528-147893529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187122001	chr4:147893539-147893540	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553169835	chr4:147893543-147893544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572845817	chr4:147893548-147893549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs55974445	chr4:147893585-147893586	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561510568	chr4:147893610-147893611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs75819706	chr4:147893623-147893624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs575274806	chr4:147893629-147893630	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs10519848	chr4:147893635-147893636	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs369633510	chr4:147893672-147893673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564722042	chr4:147893678-147893679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs371095728	chr4:147893679-147893680	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs116147911	chr4:147893752-147893753	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140102308	chr4:147893764-147893765	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577203614	chr4:147893772-147893773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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