Variant report

Variant	esv1004503
Chromosome Location	chr4:20399974-20409944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20402146..20406160-chr4:20406620..20409164,3	K562	blood:
2	chr4:20402146..20406160-chr4:20406620..20409164,3	K562	blood:
3	chr4:20394669..20396479-chr4:20401763..20404703,2	MCF-7	breast:

Extended variants
information (count: 352 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:352 , 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	rs115823873	chr4:20400014-20400015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572657021	chr4:20400027-20400028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539679925	chr4:20400039-20400040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114286924	chr4:20400069-20400070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576507169	chr4:20400092-20400093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181213689	chr4:20400120-20400121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185656906	chr4:20400182-20400183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574361752	chr4:20400197-20400198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188907048	chr4:20400222-20400223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564238221	chr4:20400223-20400224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560048345	chr4:20400232-20400233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73238796	chr4:20400281-20400282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181654487	chr4:20400319-20400320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564158816	chr4:20400345-20400346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187104469	chr4:20400369-20400370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549771611	chr4:20400372-20400373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540240976	chr4:20400380-20400381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528926786	chr4:20400381-20400382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548095182	chr4:20400386-20400387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560068707	chr4:20400391-20400392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566286034	chr4:20400415-20400416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192379619	chr4:20400465-20400466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558071453	chr4:20400474-20400475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114967324	chr4:20400477-20400478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537170355	chr4:20400518-20400519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182433926	chr4:20400605-20400606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115418288	chr4:20400627-20400628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112429033	chr4:20400653-20400654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553645151	chr4:20400676-20400677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572250585	chr4:20400687-20400688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545945330	chr4:20400696-20400697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564144807	chr4:20400768-20400769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73250370	chr4:20400802-20400803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs368142395	chr4:20400845-20400846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114267427	chr4:20400859-20400860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561801201	chr4:20400888-20400889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528887685	chr4:20400889-20400890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186120551	chr4:20400942-20400943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566316371	chr4:20400982-20400983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373499935	chr4:20401015-20401016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562972661	chr4:20401026-20401027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570127256	chr4:20401061-20401062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75923720	chr4:20401081-20401082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74571208	chr4:20401093-20401094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28648472	chr4:20401134-20401135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190980935	chr4:20401140-20401141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553099262	chr4:20401158-20401159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114933984	chr4:20401185-20401186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572273286	chr4:20401218-20401219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545804456	chr4:20401317-20401318	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20393200-20405800	Weak transcription	Fetal Lung	lung
2	chr4:20393200-20408800	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:20395600-20404800	Weak transcription	NHDF-Ad	bronchial
4	chr4:20395600-20405000	Weak transcription	Brain Anterior Caudate	brain
5	chr4:20399800-20400000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:20404200-20406200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:20404600-20404800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:20404600-20406200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:20404800-20405200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:20404800-20405200	Enhancers	NHDF-Ad	bronchial
11	chr4:20405000-20405400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:20405000-20405600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:20405000-20406000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:20405000-20406400	Enhancers	Brain Anterior Caudate	brain
15	chr4:20405200-20406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:20405200-20419600	Weak transcription	NHDF-Ad	bronchial
17	chr4:20405400-20406200	Enhancers	Brain Hippocampus Middle	brain
18	chr4:20405600-20406200	Enhancers	Brain Substantia Nigra	brain
19	chr4:20405800-20406200	Enhancers	Fetal Lung	lung
20	chr4:20406000-20409200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:20406200-20409200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:20406200-20420000	Weak transcription	Fetal Lung	lung
23	chr4:20406400-20409000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:20408800-20409400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:20409000-20409600	Enhancers	Brain Cingulate Gyrus	brain
26	chr4:20409000-20409800	Enhancers	Brain Anterior Caudate	brain
27	chr4:20409000-20410800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:20409200-20409600	Enhancers	Brain Hippocampus Middle	brain
29	chr4:20409200-20410200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr4:20409200-20411000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:20409400-20410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:20409400-20410200	Enhancers	Ovary	ovary
33	chr4:20409400-20411600	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:20409600-20410200	Enhancers	Osteobl	bone
35	chr4:20409800-20410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:20409800-20410200	Weak transcription	Brain Anterior Caudate	brain

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