Variant report

Variant	esv3362873
Chromosome Location	chr4:133004396-133039207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46369779..46370335-chr4:133015624..133016125,2	MCF-7	breast:
2	chr4:133016619..133019412-chr4:133020673..133022375,2	K562	blood:
3	chr4:132949068..132951871-chr4:133002686..133005668,2	K562	blood:
4	chr4:133016619..133019412-chr4:133020673..133022375,2	K562	blood:

Variant related genes	Relation type
ENSG00000249463	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574210443	chr4:133004404-133004405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539829497	chr4:133004454-133004455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs190985527	chr4:133004467-133004468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576724416	chr4:133004469-133004470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545821249	chr4:133004473-133004474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182771438	chr4:133004544-133004545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367876667	chr4:133004560-133004561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112861760	chr4:133004576-133004577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542021060	chr4:133004628-133004629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562146342	chr4:133004634-133004635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146890945	chr4:133004672-133004673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547809616	chr4:133004700-133004701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187306736	chr4:133004714-133004715	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570897804	chr4:133004732-133004733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77837484	chr4:133004741-133004742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566417802	chr4:133004747-133004748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192206571	chr4:133004759-133004760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182506916	chr4:133004805-133004806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570106860	chr4:133004872-133004873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535640720	chr4:133004874-133004875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535012948	chr4:133004893-133004894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555962302	chr4:133004900-133004901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529452560	chr4:133004934-133004935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs551324474	chr4:133004941-133004942	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs188415029	chr4:133004992-133004993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149718243	chr4:133004994-133004995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs67621149	chr4:133004995-133004996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs70948174	chr4:133005001-133005002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76949992	chr4:133005002-133005003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569544583	chr4:133005020-133005021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370411248	chr4:133005041-133005042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553344167	chr4:133005056-133005057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568525630	chr4:133005059-133005060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537647731	chr4:133005073-133005074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116459273	chr4:133005074-133005075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114187277	chr4:133005092-133005093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367811648	chr4:133005153-133005154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556146027	chr4:133005157-133005158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576318281	chr4:133005158-133005159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs541636893	chr4:133005188-133005189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs561910431	chr4:133005193-133005194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1876057	chr4:133005217-133005218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs537164129	chr4:133005272-133005273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs149023470	chr4:133005290-133005291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs62317294	chr4:133005320-133005321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs74836205	chr4:133005322-133005323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375788909	chr4:133005331-133005332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145892052	chr4:133005333-133005334	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192168408	chr4:133005403-133005404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs533146803	chr4:133005426-133005427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133000200-133007200	Weak transcription	Esophagus	oesophagus
2	chr4:133007200-133008000	ZNF genes & repeats	Esophagus	oesophagus
3	chr4:133011200-133011600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:133011600-133012000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr4:133013600-133014400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:133021800-133023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:133022000-133023400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:133022200-133022400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:133022200-133022600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:133022600-133023600	Enhancers	NHDF-Ad	bronchial
11	chr4:133023800-133024400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr4:133035800-133036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:133038200-133045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:133039000-133039200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr4:133039200-133045000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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