Variant report

Variant	esv3420991
Chromosome Location	chr4:20405954-20410452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20402146..20406160-chr4:20406620..20409164,3	K562	blood:
2	chr4:20402146..20406160-chr4:20406620..20409164,3	K562	blood:

Extended variants
information (count: 142 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531367262	chr4:20406004-20406005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141593092	chr4:20406020-20406021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538198988	chr4:20406052-20406053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76885347	chr4:20406073-20406074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554085183	chr4:20406104-20406105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190221845	chr4:20406106-20406107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182398913	chr4:20406171-20406172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558261624	chr4:20406218-20406219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144199892	chr4:20406229-20406230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187395526	chr4:20406233-20406234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533468727	chr4:20406245-20406246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189803253	chr4:20406246-20406247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574402032	chr4:20406270-20406271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180988057	chr4:20406272-20406273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560108648	chr4:20406279-20406280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77843198	chr4:20406313-20406314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545563388	chr4:20406387-20406388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565514194	chr4:20406406-20406407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185601639	chr4:20406448-20406449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142310567	chr4:20406489-20406490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556777053	chr4:20406491-20406492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549808121	chr4:20406498-20406499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190313408	chr4:20406510-20406511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529577898	chr4:20406515-20406516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150857506	chr4:20406524-20406525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75078219	chr4:20406529-20406530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540060161	chr4:20406579-20406580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182894762	chr4:20406602-20406603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76681288	chr4:20406606-20406607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188684199	chr4:20406614-20406615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372350309	chr4:20406648-20406649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386399446	chr4:20406650-20406651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397935727	chr4:20406651-20406652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144388608	chr4:20406659-20406660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574361925	chr4:20406684-20406685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528943507	chr4:20406687-20406688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191775136	chr4:20406713-20406714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77134154	chr4:20406737-20406738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554066156	chr4:20406814-20406815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149863258	chr4:20406818-20406819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373566260	chr4:20406819-20406820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572136141	chr4:20406922-20406923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146619478	chr4:20407021-20407022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568731462	chr4:20407041-20407042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564125501	chr4:20407052-20407053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147057523	chr4:20407075-20407076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184017998	chr4:20407076-20407077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531515699	chr4:20407136-20407137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141420953	chr4:20407155-20407156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76780544	chr4:20407261-20407262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20393200-20408800	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:20404200-20406200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:20404600-20406200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:20405000-20406000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:20405000-20406400	Enhancers	Brain Anterior Caudate	brain
6	chr4:20405200-20406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:20405200-20419600	Weak transcription	NHDF-Ad	bronchial
8	chr4:20405400-20406200	Enhancers	Brain Hippocampus Middle	brain
9	chr4:20405600-20406200	Enhancers	Brain Substantia Nigra	brain
10	chr4:20405800-20406200	Enhancers	Fetal Lung	lung
11	chr4:20406000-20409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:20406200-20409200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:20406200-20420000	Weak transcription	Fetal Lung	lung
14	chr4:20406400-20409000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:20408800-20409400	Enhancers	Colon Smooth Muscle	Colon
16	chr4:20409000-20409600	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:20409000-20409800	Enhancers	Brain Anterior Caudate	brain
18	chr4:20409000-20410800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:20409200-20409600	Enhancers	Brain Hippocampus Middle	brain
20	chr4:20409200-20410200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr4:20409200-20411000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:20409400-20410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:20409400-20410200	Enhancers	Ovary	ovary
24	chr4:20409400-20411600	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:20409600-20410200	Enhancers	Osteobl	bone
26	chr4:20409800-20410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:20409800-20410200	Weak transcription	Brain Anterior Caudate	brain
28	chr4:20410000-20410200	Enhancers	NHLF	lung
29	chr4:20410000-20410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:20410000-20410400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:20410000-20410600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:20410000-20410800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:20410200-20410400	Enhancers	Brain Anterior Caudate	brain
34	chr4:20410200-20410600	Flanking Active TSS	Osteobl	bone
35	chr4:20410200-20420200	Weak transcription	NHLF	lung
36	chr4:20410400-20410800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:20410400-20413400	Weak transcription	Brain Anterior Caudate	brain

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