Variant report

Variant	nsv1030555
Chromosome Location	chr4:160731749-160793323
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	chr3:181610529..181611366-chr4:160735221..160735903,2	MCF-7	breast:
2	chr4:160637612..160639722-chr4:160777878..160779378,2	K562	blood:

Extended variants
information (count: 1414 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1414 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542823181	chr4:160735009-160735010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559636058	chr4:160735049-160735050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148827780	chr4:160735051-160735052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551659175	chr4:160735065-160735066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565033644	chr4:160735072-160735073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530495771	chr4:160735106-160735107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111842529	chr4:160735207-160735208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112624568	chr4:160735211-160735212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143763605	chr4:160735216-160735217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187548447	chr4:160735261-160735262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546786515	chr4:160735269-160735270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377256669	chr4:160735290-160735291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538850527	chr4:160735293-160735294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138871926	chr4:160735328-160735329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113334483	chr4:160735378-160735379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111718485	chr4:160735479-160735480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554695964	chr4:160735480-160735481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190608563	chr4:160735508-160735509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183558235	chr4:160735515-160735516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113798230	chr4:160735564-160735565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573025027	chr4:160735581-160735582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62335364	chr4:160735596-160735597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565150224	chr4:160735597-160735598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112196658	chr4:160735627-160735628	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs550527722	chr4:160735632-160735633	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34487331	chr4:160735651-160735652	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111888871	chr4:160735691-160735692	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566656029	chr4:160735707-160735708	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546243076	chr4:160735719-160735720	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566251483	chr4:160735723-160735724	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568584838	chr4:160735750-160735751	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs112188050	chr4:160735761-160735762	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112173842	chr4:160735774-160735775	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187813447	chr4:160735802-160735803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112415633	chr4:160735816-160735817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62335365	chr4:160735831-160735832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113439416	chr4:160735833-160735834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201534414	chr4:160735836-160735837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34744832	chr4:160735847-160735848	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192459980	chr4:160735873-160735874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577429073	chr4:160735881-160735882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113320012	chr4:160735928-160735929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144913035	chr4:160735930-160735931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375288077	chr4:160735938-160735939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575490577	chr4:160735945-160735946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184538824	chr4:160735964-160735965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560857791	chr4:160735975-160735976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111844126	chr4:160736010-160736011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539858402	chr4:160736027-160736028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62335366	chr4:160736029-160736030	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Splenic marginal zone lymphoma	21957467	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
Esophageal cancer	21851588	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19805367	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160735000-160735600	Enhancers	HSMMtube	muscle
2	chr4:160735600-160735800	Flanking Active TSS	HSMMtube	muscle
3	chr4:160735800-160736800	Enhancers	HSMMtube	muscle
4	chr4:160740600-160744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:160744400-160745000	Enhancers	HMEC	breast
6	chr4:160744400-160745600	Enhancers	NH-A	brain
7	chr4:160744400-160746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:160744600-160745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:160744600-160745400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:160744600-160745400	Enhancers	HSMMtube	muscle
11	chr4:160744600-160745600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:160744600-160745600	Enhancers	HSMM	muscle
13	chr4:160745400-160750000	Weak transcription	HSMMtube	muscle
14	chr4:160749200-160749600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:160750000-160750400	Enhancers	HSMMtube	muscle
16	chr4:160757400-160757800	Enhancers	Brain Substantia Nigra	brain
17	chr4:160757800-160758200	Weak transcription	Brain Substantia Nigra	brain
18	chr4:160758200-160758600	Enhancers	Brain Anterior Caudate	brain
19	chr4:160758200-160758600	Enhancers	Brain Hippocampus Middle	brain
20	chr4:160758200-160759400	Enhancers	Brain Substantia Nigra	brain
21	chr4:160766400-160767000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:160767000-160768200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:160771000-160783800	Weak transcription	Pancreas	Pancrea
24	chr4:160776000-160776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:160776400-160777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:160777000-160778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:160777400-160777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:160777400-160778800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:160777600-160778000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:160777600-160778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:160777600-160778200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr4:160777600-160778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr4:160777600-160778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:160777600-160778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:160777800-160779200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr4:160778200-160778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:160778600-160779000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:160778600-160779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:160782200-160783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:160783000-160784200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:160784200-160785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:160784600-160784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:160784800-160787600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:160787200-160799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:160787600-160788200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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