Variant report

Variant	nsv878744
Chromosome Location	chr4:20896318-20951955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20940626..20942127-chr4:20945526..20948025,2	K562	blood:
2	chr4:20779088..20780993-chr4:20896835..20899396,2	K562	blood:
3	chr4:20940626..20942127-chr4:20945526..20948025,2	K562	blood:

Extended variants
information (count: 1220 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557159062	chr4:20897604-20897605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575319265	chr4:20897623-20897624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535921827	chr4:20897670-20897671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554560541	chr4:20897687-20897688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116834738	chr4:20897698-20897699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562442377	chr4:20897700-20897701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540552467	chr4:20897711-20897712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369981385	chr4:20897720-20897721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577087320	chr4:20897796-20897797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537031441	chr4:20897804-20897805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192197379	chr4:20897823-20897824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373366182	chr4:20897852-20897853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562891021	chr4:20897878-20897879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35053460	chr4:20897889-20897890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs77646047	chr4:20897899-20897900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11946061	chr4:20897944-20897945	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs527666370	chr4:20897967-20897968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116913037	chr4:20897984-20897985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546952556	chr4:20897985-20897986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571582828	chr4:20898095-20898096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184577952	chr4:20898099-20898100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187805275	chr4:20898128-20898129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568918437	chr4:20898166-20898167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140331631	chr4:20898173-20898174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554344925	chr4:20898206-20898207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566163336	chr4:20898212-20898213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1565534	chr4:20898220-20898221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150370131	chr4:20898234-20898235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192889270	chr4:20898237-20898238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145062296	chr4:20898246-20898247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562397260	chr4:20898247-20898248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575883812	chr4:20898301-20898302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544461476	chr4:20898340-20898341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533239023	chr4:20898387-20898388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556756339	chr4:20898493-20898494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560745401	chr4:20898497-20898498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141128782	chr4:20898503-20898504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144945697	chr4:20898522-20898523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138814483	chr4:20898529-20898530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184142882	chr4:20898537-20898538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188846112	chr4:20898538-20898539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532459573	chr4:20898550-20898551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78726240	chr4:20898557-20898558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74596312	chr4:20898558-20898559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181643057	chr4:20898582-20898583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377097563	chr4:20898618-20898619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13143295	chr4:20898635-20898636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184571106	chr4:20898651-20898652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548328988	chr4:20898657-20898658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549118466	chr4:20898745-20898746	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20897600-20899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:20901800-20903000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:20902200-20903800	Enhancers	Colon Smooth Muscle	Colon
4	chr4:20903600-20904200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:20912000-20912200	Enhancers	Gastric	stomach
6	chr4:20916200-20916600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr4:20916200-20917200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr4:20916200-20918200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:20916200-20918400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr4:20916400-20916600	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr4:20916400-20916800	Enhancers	Colon Smooth Muscle	Colon
12	chr4:20916400-20918400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:20916600-20916800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
14	chr4:20916600-20916800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:20916600-20927800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:20916800-20917000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr4:20916800-20917800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:20916800-20918400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:20917200-20917600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:20917600-20918200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:20917800-20918400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:20917800-20920400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:20918200-20918600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:20918200-20919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:20918400-20919200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:20918400-20919400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:20918400-20919800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:20918600-20920600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:20918800-20919400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr4:20919000-20920600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:20919200-20919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:20919400-20919600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:20919400-20920200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:20919800-20920000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:20920200-20920400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:20920200-20921200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:20921200-20927200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:20926400-20927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:20926600-20927000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:20926800-20928000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr4:20927200-20928000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:20927800-20928400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr4:20928000-20930200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:20942600-20942800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:20942600-20944000	Enhancers	Adipose Nuclei	Adipose
46	chr4:20943400-20943600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:20943400-20944000	Enhancers	Ovary	ovary
48	chr4:20943600-20944400	Enhancers	Colon Smooth Muscle	Colon
49	chr4:20944400-20944800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:20944800-20945600	Enhancers	Colon Smooth Muscle	Colon

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