Variant report

Variant	nsv594869
Chromosome Location	chr4:93434136-93480717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:93434886..93436541-chr4:93486388..93487907,2	MCF-7	breast:

Extended variants
information (count: 1840 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1450507	chr4:93434136-93434137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368531475	chr4:93434151-93434152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535966861	chr4:93434162-93434163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376632193	chr4:93434178-93434179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556255410	chr4:93434266-93434267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569536204	chr4:93434277-93434278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188792348	chr4:93434340-93434341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143062737	chr4:93434344-93434345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572780843	chr4:93434345-93434346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115155113	chr4:93434416-93434417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151149042	chr4:93434485-93434486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574957392	chr4:93434494-93434495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543912408	chr4:93434530-93434531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112885786	chr4:93434549-93434550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563837597	chr4:93434573-93434574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577157936	chr4:93434576-93434577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193053938	chr4:93434638-93434639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564984320	chr4:93434658-93434659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114099854	chr4:93434662-93434663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547165244	chr4:93434700-93434701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534855161	chr4:93434702-93434703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10032080	chr4:93434718-93434719	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553325051	chr4:93434798-93434799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555457952	chr4:93434811-93434812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549602627	chr4:93434825-93434826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569779959	chr4:93434871-93434872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2167210	chr4:93434872-93434873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs369732451	chr4:93434891-93434892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552160110	chr4:93434900-93434901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566342338	chr4:93434933-93434934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535459665	chr4:93434935-93434936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535361198	chr4:93434978-93434979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372062745	chr4:93435013-93435014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201891693	chr4:93435090-93435091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140071755	chr4:93435114-93435115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557169917	chr4:93435126-93435127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185232755	chr4:93435209-93435210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545835403	chr4:93435241-93435242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112814487	chr4:93435314-93435315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572932665	chr4:93435381-93435382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138393914	chr4:93435386-93435387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62310697	chr4:93435501-93435502	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113133061	chr4:93435502-93435503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529837133	chr4:93435513-93435514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376655812	chr4:93435540-93435541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370102244	chr4:93435576-93435577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10018444	chr4:93435582-93435583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563196570	chr4:93435630-93435631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532249862	chr4:93435646-93435647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564550939	chr4:93435705-93435706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93414800-93434400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:93429000-93434400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:93429000-93435600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:93429000-93437600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:93429200-93434200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:93429200-93435400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:93429600-93434200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:93431400-93434200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:93432600-93434800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:93432600-93435800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:93433600-93437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:93433800-93441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:93434200-93435000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:93434200-93435200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:93434200-93440000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:93434400-93434600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:93434400-93435000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:93434400-93435200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:93434600-93435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:93434800-93436200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:93435000-93435400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:93435000-93435800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:93435200-93435600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:93435200-93436200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:93435200-93439000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:93435400-93436200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:93435400-93436200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:93435400-93436400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:93435600-93436600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:93435600-93440800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:93435800-93436000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:93435800-93436200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr4:93435800-93436200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:93435800-93436200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:93436000-93441600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:93436200-93437600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr4:93436200-93437600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:93436200-93437600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:93436200-93438400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:93436200-93439200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:93436200-93439400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:93436200-93440800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:93436400-93436800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:93436600-93437000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:93436800-93438200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr4:93437000-93440800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:93437600-93438000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr4:93437600-93438000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:93437600-93438000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:93437600-93438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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