Variant report

Variant	nsv1034110
Chromosome Location	chr4:167160448-167194968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:167086659..167087619-chr4:167173764..167174746,5	MCF-7	breast:
2	chr4:167086669..167087587-chr4:167173432..167174252,3	MCF-7	breast:
3	chr2:198174852..198175582-chr4:167182637..167183400,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000065413	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371543946	chr4:167176216-167176217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184955389	chr4:167176275-167176276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551996664	chr4:167176296-167176297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535702552	chr4:167176329-167176330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536219708	chr4:167176331-167176332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6810473	chr4:167176340-167176341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569686296	chr4:167176359-167176360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs448538	chr4:167176371-167176372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548266752	chr4:167176394-167176395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539705936	chr4:167176395-167176396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80190415	chr4:167176453-167176454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188107486	chr4:167176595-167176596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114836612	chr4:167176602-167176603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562075541	chr4:167176606-167176607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371903316	chr4:167176622-167176623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180955024	chr4:167176629-167176630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375701262	chr4:167176631-167176632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541680654	chr4:167176640-167176641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563461981	chr4:167176652-167176653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534191620	chr4:167176660-167176661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142932857	chr4:167176684-167176685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116634478	chr4:167176743-167176744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555764487	chr4:167176757-167176758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562152871	chr4:167176822-167176823	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs374838542	chr4:167176824-167176825	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs528131620	chr4:167176834-167176835	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs1663600	chr4:167176845-167176846	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs151082853	chr4:167176851-167176852	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs535502758	chr4:167176933-167176934	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs550905988	chr4:167176944-167176945	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs569389652	chr4:167176952-167176953	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs143734175	chr4:167176986-167176987	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs184748918	chr4:167177009-167177010	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs71604434	chr4:167177019-167177020	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs558072653	chr4:167177034-167177035	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs1675024	chr4:167177046-167177047	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7677325	chr4:167177101-167177102	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74321766	chr4:167177102-167177103	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs537970548	chr4:167177112-167177113	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs373490872	chr4:167177129-167177130	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs554234802	chr4:167177149-167177150	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs56797805	chr4:167177173-167177174	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574385032	chr4:167177189-167177190	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs146900238	chr4:167177190-167177191	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs368283523	chr4:167177206-167177207	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs546009594	chr4:167177207-167177208	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs564405504	chr4:167177216-167177217	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs147887869	chr4:167177231-167177232	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs546297414	chr4:167177254-167177255	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs78945941	chr4:167177316-167177317	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167176200-167176800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:167176800-167177400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:167179000-167179400	Enhancers	Placenta	Placenta
4	chr4:167184000-167184200	Bivalent Enhancer	Aorta	Aorta

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