Variant report

Variant	nsv4494
Chromosome Location	chr4:122256838-122290461
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	chr4:122265924..122266538-chr4:122292160..122292685,2	MCF-7	breast:

Extended variants
information (count: 934 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:934 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185390092	chr4:122256851-122256852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538080259	chr4:122256852-122256853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141279716	chr4:122256871-122256872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529309293	chr4:122256938-122256939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578211612	chr4:122256948-122256949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537590670	chr4:122256954-122256955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190198684	chr4:122256995-122256996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182099299	chr4:122256996-122256997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560579110	chr4:122257023-122257024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546042046	chr4:122257040-122257041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573590999	chr4:122257043-122257044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73845734	chr4:122257046-122257047	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562630758	chr4:122257059-122257060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531291150	chr4:122257079-122257080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187908065	chr4:122257080-122257081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193009592	chr4:122257092-122257093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184037756	chr4:122257112-122257113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188937412	chr4:122257113-122257114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547721577	chr4:122257116-122257117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567436006	chr4:122257128-122257129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4447882	chr4:122257129-122257130	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145486223	chr4:122257134-122257135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60947246	chr4:122257143-122257144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs397965252	chr4:122257150-122257151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112923598	chr4:122257153-122257154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537967255	chr4:122257171-122257172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531402150	chr4:122257178-122257179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73845735	chr4:122257257-122257258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116028765	chr4:122257265-122257266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs193077537	chr4:122257293-122257294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74401332	chr4:122257317-122257318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184638328	chr4:122257338-122257339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544884472	chr4:122257388-122257389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542641893	chr4:122257402-122257403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564776293	chr4:122257434-122257435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576078637	chr4:122257462-122257463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530614523	chr4:122257480-122257481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4273489	chr4:122257538-122257539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561056017	chr4:122257564-122257565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188562222	chr4:122257599-122257600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536386960	chr4:122257607-122257608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540862282	chr4:122257645-122257646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561261822	chr4:122257647-122257648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56272601	chr4:122257681-122257682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs550017557	chr4:122257683-122257684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs118110679	chr4:122257739-122257740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373603919	chr4:122257750-122257751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4273490	chr4:122257754-122257755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551469801	chr4:122257756-122257757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571398106	chr4:122257782-122257783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122248000-122260000	Weak transcription	Fetal Heart	heart
2	chr4:122248000-122263200	Weak transcription	Left Ventricle	heart
3	chr4:122249600-122258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:122254200-122263200	Weak transcription	HMEC	breast
5	chr4:122255600-122260600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:122257000-122257600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:122258000-122258400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:122258400-122265200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:122259600-122259800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:122259600-122260000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:122259600-122260600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:122259800-122260400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:122259800-122260600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:122259800-122260600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:122259800-122260600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:122259800-122260600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:122259800-122260800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:122259800-122260800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:122259800-122264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:122260000-122260800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:122260000-122262200	Enhancers	Fetal Heart	heart
22	chr4:122260200-122260800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:122260600-122260800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:122260600-122260800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:122260600-122260800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:122260600-122261000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:122260600-122261000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:122260600-122261000	Enhancers	Pancreas	Pancrea
29	chr4:122261000-122263200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:122261000-122263800	Weak transcription	Pancreas	Pancrea
31	chr4:122262200-122264000	Weak transcription	Fetal Heart	heart
32	chr4:122263000-122263400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:122263200-122263400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:122263200-122263400	Enhancers	Left Ventricle	heart
35	chr4:122263200-122264600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:122263400-122263800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:122263800-122264400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:122264000-122267000	Enhancers	Fetal Heart	heart
39	chr4:122264200-122264400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:122265200-122265600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:122266400-122266600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:122274400-122275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:122274400-122275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:122279000-122279400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:122279000-122280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:122279200-122280400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:122279400-122279800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:122279400-122280200	Enhancers	NHEK	skin
49	chr4:122279400-122280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:122279400-122280400	Enhancers	Muscle Satellite Cultured Cells	--

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