Variant report

Variant	esv3377161
Chromosome Location	chr4:20518904-20521102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145461068	chr4:20518914-20518915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553100631	chr4:20518943-20518944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534661904	chr4:20518974-20518975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577940187	chr4:20518992-20518993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34973961	chr4:20519018-20519019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545350794	chr4:20519041-20519042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563551920	chr4:20519075-20519076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188474423	chr4:20519136-20519137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145318052	chr4:20519159-20519160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577034232	chr4:20519214-20519215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368501826	chr4:20519312-20519313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529148535	chr4:20519318-20519319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547494133	chr4:20519321-20519322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541002493	chr4:20519357-20519358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565815718	chr4:20519365-20519366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75972893	chr4:20519372-20519373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73108676	chr4:20519393-20519394	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377074275	chr4:20519394-20519395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199756519	chr4:20519536-20519537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563918145	chr4:20519673-20519674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569556320	chr4:20519704-20519705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537710977	chr4:20519706-20519707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374265464	chr4:20519707-20519708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199591063	chr4:20519718-20519719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555684651	chr4:20519719-20519720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567520422	chr4:20519727-20519728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547078726	chr4:20519740-20519741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201300520	chr4:20519742-20519743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560336208	chr4:20519748-20519749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201319960	chr4:20519765-20519766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201090767	chr4:20519781-20519782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369337919	chr4:20519785-20519786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13130853	chr4:20519800-20519801	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553163941	chr4:20519803-20519804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578023338	chr4:20519815-20519816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545172221	chr4:20519819-20519820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202007266	chr4:20519833-20519834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151323357	chr4:20519852-20519853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377647430	chr4:20519863-20519864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575588389	chr4:20519864-20519865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181251002	chr4:20519868-20519869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71613271	chr4:20519878-20519879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200572190	chr4:20519879-20519880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13106820	chr4:20519880-20519881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80074652	chr4:20519881-20519882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189905889	chr4:20519884-20519885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546484664	chr4:20519897-20519898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76638192	chr4:20519903-20519904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71607024	chr4:20519906-20519907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561990578	chr4:20519935-20519936	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20464600-20532600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:20489200-20529600	Weak transcription	Fetal Stomach	stomach
3	chr4:20489800-20525400	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:20490800-20529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:20492000-20534800	Weak transcription	Fetal Kidney	kidney
6	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
7	chr4:20494000-20522600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:20507600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:20508600-20522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:20508800-20534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:20509000-20522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:20512800-20522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:20513200-20534600	Weak transcription	Fetal Brain Male	brain
15	chr4:20514400-20519000	Strong transcription	Fetal Lung	lung
16	chr4:20514400-20522200	Weak transcription	Osteobl	bone
17	chr4:20514800-20520600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:20515000-20520600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:20515000-20522400	Weak transcription	NHEK	skin
20	chr4:20517800-20519800	Strong transcription	NHDF-Ad	bronchial
21	chr4:20519000-20520600	Weak transcription	Fetal Lung	lung
22	chr4:20519400-20521000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
24	chr4:20519800-20522200	Weak transcription	NHDF-Ad	bronchial
25	chr4:20520600-20523200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:20520600-20526200	Strong transcription	Fetal Lung	lung
27	chr4:20520600-20539600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:20521000-20521400	Strong transcription	Duodenum Smooth Muscle	Duodenum

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