Variant report

Variant	nsv1019896
Chromosome Location	chr4:173080612-173136826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:172766885..172767609-chr4:173124821..173125723,2	MCF-7	breast:
2	chr4:173111162..173113888-chr4:173117599..173120346,2	MCF-7	breast:
3	chr4:173103489..173104997-chr4:173109245..173111025,2	MCF-7	breast:
4	chr4:173044765..173047088-chr4:173079420..173082329,2	K562	blood:
5	chr4:173074282..173077091-chr4:173091683..173093762,2	K562	blood:
6	chr4:173050637..173053046-chr4:173107907..173109625,2	MCF-7	breast:
7	chr4:173078582..173081138-chr4:173086221..173088040,2	K562	blood:
8	chr4:173089178..173091418-chr4:173092535..173094770,2	MCF-7	breast:
9	chr4:172767109..172768058-chr4:173123231..173123903,5	MCF-7	breast:
10	chr4:173067690..173070297-chr4:173091111..173092982,2	K562	blood:
11	chr4:173078867..173079704-chr4:173123331..173123919,3	MCF-7	breast:
12	chr4:172108195..172108993-chr4:173123571..173124091,2	MCF-7	breast:
13	chr4:173089178..173091418-chr4:173092535..173094770,2	MCF-7	breast:
14	chr4:173077162..173078692-chr4:173096029..173098571,2	K562	blood:
15	chr4:173103489..173104997-chr4:173109245..173111025,2	MCF-7	breast:
16	chr4:173078582..173081138-chr4:173086221..173088040,2	K562	blood:
17	chr4:173111162..173113888-chr4:173117599..173120346,2	MCF-7	breast:
18	chr4:172929694..172931384-chr4:173129671..173131846,2	K562	blood:

No data

Extended variants
information (count: 532 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578067766	chr4:173080647-173080648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534505108	chr4:173080658-173080659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554399158	chr4:173080750-173080751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563830052	chr4:173080758-173080759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140024047	chr4:173080761-173080762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574175226	chr4:173080796-173080797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115444887	chr4:173080800-173080801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562925960	chr4:173080830-173080831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575025771	chr4:173080843-173080844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543901953	chr4:173080851-173080852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542841129	chr4:173080872-173080873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563782533	chr4:173080887-173080888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142686395	chr4:173080922-173080923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147358342	chr4:173080926-173080927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139527500	chr4:173080942-173080943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190052676	chr4:173080974-173080975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549194470	chr4:173080990-173080991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183079421	chr4:173081109-173081110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78141358	chr4:173081168-173081169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187729770	chr4:173081228-173081229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571267702	chr4:173081242-173081243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192442871	chr4:173081274-173081275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201412737	chr4:173081291-173081292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534156442	chr4:173081324-173081325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528540668	chr4:173081331-173081332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574312604	chr4:173081359-173081360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145144031	chr4:173081446-173081447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147603082	chr4:173081460-173081461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571626200	chr4:173081501-173081502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35325563	chr4:173081503-173081504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72700968	chr4:173081507-173081508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115470933	chr4:173081522-173081523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563788988	chr4:173081558-173081559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577237970	chr4:173081559-173081560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13146606	chr4:173081597-173081598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559876462	chr4:173081599-173081600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371186253	chr4:173081713-173081714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76167932	chr4:173081725-173081726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114359418	chr4:173081759-173081760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530825326	chr4:173081885-173081886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562712363	chr4:173081904-173081905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184052503	chr4:173081948-173081949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201155325	chr4:173082044-173082045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143931868	chr4:173082045-173082046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372355270	chr4:173082059-173082060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551927417	chr4:173082060-173082061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199589256	chr4:173082062-173082063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141929757	chr4:173082063-173082064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571736791	chr4:173082095-173082096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188945224	chr4:173082149-173082150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173075400-173082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:173082800-173085000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:173085000-173085200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:173085200-173085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:173089600-173089800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr4:173089800-173094000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:173090200-173091400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:173091000-173091400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr4:173091000-173091400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:173091000-173091400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:173091200-173091400	Enhancers	K562	blood
12	chr4:173091400-173092800	Weak transcription	K562	blood
13	chr4:173091400-173093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:173091400-173094000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:173092800-173094600	Enhancers	K562	blood
16	chr4:173093600-173094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:173094000-173094600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:173094000-173094600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:173094400-173094800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:173109000-173110200	Enhancers	HepG2	liver
21	chr4:173109600-173110000	Enhancers	Gastric	stomach
22	chr4:173109800-173110200	Enhancers	Brain Germinal Matrix	brain
23	chr4:173110000-173110400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:173110200-173110400	Weak transcription	Brain Germinal Matrix	brain
25	chr4:173110400-173110800	Enhancers	Brain Germinal Matrix	brain
26	chr4:173110600-173111600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:173110800-173111800	Weak transcription	Brain Germinal Matrix	brain
28	chr4:173111800-173112000	Enhancers	Brain Germinal Matrix	brain
29	chr4:173120400-173120800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:173128600-173129400	Enhancers	Monocytes-CD14+_RO01746	blood

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