Variant report

Variant	esv2760835
Chromosome Location	chr4:20555720-20563942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:
3	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564697698	chr4:20555733-20555734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529051176	chr4:20555745-20555746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547603419	chr4:20555748-20555749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565413843	chr4:20555837-20555838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376006849	chr4:20555873-20555874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189099108	chr4:20555879-20555880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550951706	chr4:20555888-20555889	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569266295	chr4:20555926-20555927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537049888	chr4:20555978-20555979	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181831883	chr4:20556013-20556014	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567962543	chr4:20556085-20556086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534668880	chr4:20556092-20556093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532491780	chr4:20556096-20556097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534892679	chr4:20556114-20556115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553633520	chr4:20556119-20556120	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542906517	chr4:20556124-20556125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578144580	chr4:20556142-20556143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186386262	chr4:20556147-20556148	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141273875	chr4:20556164-20556165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575502595	chr4:20556170-20556171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554856564	chr4:20556244-20556245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543030663	chr4:20556255-20556256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561801439	chr4:20556262-20556263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574774712	chr4:20556292-20556293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540822105	chr4:20556317-20556318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188009374	chr4:20556381-20556382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532969343	chr4:20556386-20556387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144729112	chr4:20556387-20556388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551012656	chr4:20556390-20556391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557526142	chr4:20556391-20556392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569432414	chr4:20556393-20556394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147594307	chr4:20556396-20556397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530388893	chr4:20556436-20556437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150793975	chr4:20556480-20556481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180936604	chr4:20556486-20556487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139222558	chr4:20556517-20556518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553597837	chr4:20556570-20556571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143650038	chr4:20556582-20556583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539238028	chr4:20556585-20556586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557463376	chr4:20556590-20556591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs603679	chr4:20556634-20556635	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542632592	chr4:20556671-20556672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554993169	chr4:20556672-20556673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573843726	chr4:20556676-20556677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540885446	chr4:20556682-20556683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559222700	chr4:20556684-20556685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112838604	chr4:20556695-20556696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544817101	chr4:20556773-20556774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563219941	chr4:20556779-20556780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186162571	chr4:20556782-20556783	Weak transcription Strong 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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
13	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:20552000-20557600	Strong transcription	Fetal Lung	lung
15	chr4:20552400-20561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:20552600-20556000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:20552600-20558600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:20552800-20556000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:20553400-20556000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:20553800-20555800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:20554000-20557200	Weak transcription	Lung	lung
24	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
25	chr4:20554800-20555800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:20554800-20556000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:20555000-20557400	Weak transcription	Brain Anterior Caudate	brain
28	chr4:20555200-20557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:20555400-20555800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:20555400-20556000	Enhancers	NHEK	skin
32	chr4:20555400-20556200	Enhancers	HMEC	breast
33	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:20555400-20569200	Weak transcription	Osteobl	bone
35	chr4:20555600-20556400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:20555800-20556000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:20555800-20559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:20556000-20558600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:20556000-20559000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:20556400-20556600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:20557600-20558200	Weak transcription	Fetal Lung	lung
45	chr4:20557800-20558600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr4:20558200-20558400	Strong transcription	Fetal Lung	lung
47	chr4:20558400-20558800	Weak transcription	Fetal Lung	lung
48	chr4:20558600-20559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:20558600-20559400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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