Variant report

Variant	nsv1029076
Chromosome Location	chr4:160716044-160841619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:160637612..160639722-chr4:160777878..160779378,2	K562	blood:
2	chr4:160716592..160718237-chr4:160722537..160724176,2	MCF-7	breast:
3	chr4:160716592..160718237-chr4:160722537..160724176,2	MCF-7	breast:
4	chr4:160685499..160686183-chr4:160832505..160833090,2	MCF-7	breast:
5	chr4:160832633..160834306-chr4:160857852..160860490,2	MCF-7	breast:
6	chr2:111484229..111485095-chr4:160826041..160826792,2	MCF-7	breast:
7	chr3:181610529..181611366-chr4:160735221..160735903,2	MCF-7	breast:

Extended variants
information (count: 2422 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2422 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545633039	chr4:160716061-160716062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368017025	chr4:160716077-160716078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562712756	chr4:160716083-160716084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192580408	chr4:160716120-160716121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530051482	chr4:160716131-160716132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11309052	chr4:160716132-160716133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547171945	chr4:160716133-160716134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397995983	chr4:160716144-160716145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531499077	chr4:160716207-160716208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377451433	chr4:160716242-160716243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548128000	chr4:160716267-160716268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567698932	chr4:160716294-160716295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148301574	chr4:160716303-160716304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7658769	chr4:160716372-160716373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547007259	chr4:160716430-160716431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570403141	chr4:160716461-160716462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539526675	chr4:160716467-160716468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556469565	chr4:160716479-160716480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570275116	chr4:160716574-160716575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559144940	chr4:160716603-160716604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535751580	chr4:160716614-160716615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556129054	chr4:160716617-160716618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145503805	chr4:160716618-160716619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572791336	chr4:160716625-160716626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7659343	chr4:160716660-160716661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547958260	chr4:160716672-160716673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147800224	chr4:160716712-160716713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184725483	chr4:160716713-160716714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139341928	chr4:160716888-160716889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569327861	chr4:160716923-160716924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4429687	chr4:160716937-160716938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541707930	chr4:160716958-160716959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561617451	chr4:160717009-160717010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560270228	chr4:160717027-160717028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546945661	chr4:160717031-160717032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570464736	chr4:160717034-160717035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532881775	chr4:160717049-160717050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566156404	chr4:160717057-160717058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10428387	chr4:160717076-160717077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374703966	chr4:160717085-160717086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139524194	chr4:160717087-160717088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4607166	chr4:160717167-160717168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188312646	chr4:160717179-160717180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192268113	chr4:160717196-160717197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113141657	chr4:160717197-160717198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531594950	chr4:160717231-160717232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578006568	chr4:160717248-160717249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543531301	chr4:160717259-160717260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10428306	chr4:160717266-160717267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374653296	chr4:160717292-160717293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160715600-160716600	Enhancers	Fetal Brain Male	brain
2	chr4:160716400-160717400	Weak transcription	Fetal Brain Female	brain
3	chr4:160716600-160717000	Weak transcription	Fetal Brain Male	brain
4	chr4:160717000-160717600	Enhancers	Fetal Brain Male	brain
5	chr4:160717400-160717800	Enhancers	Fetal Brain Female	brain
6	chr4:160723400-160726600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:160725200-160725400	Enhancers	A549	lung
8	chr4:160725400-160726000	Active TSS	Hela-S3	cervix
9	chr4:160735000-160735600	Enhancers	HSMMtube	muscle
10	chr4:160735600-160735800	Flanking Active TSS	HSMMtube	muscle
11	chr4:160735800-160736800	Enhancers	HSMMtube	muscle
12	chr4:160740600-160744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:160744400-160745000	Enhancers	HMEC	breast
14	chr4:160744400-160745600	Enhancers	NH-A	brain
15	chr4:160744400-160746200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:160744600-160745400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:160744600-160745400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:160744600-160745400	Enhancers	HSMMtube	muscle
19	chr4:160744600-160745600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:160744600-160745600	Enhancers	HSMM	muscle
21	chr4:160745400-160750000	Weak transcription	HSMMtube	muscle
22	chr4:160749200-160749600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:160750000-160750400	Enhancers	HSMMtube	muscle
24	chr4:160757400-160757800	Enhancers	Brain Substantia Nigra	brain
25	chr4:160757800-160758200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:160758200-160758600	Enhancers	Brain Anterior Caudate	brain
27	chr4:160758200-160758600	Enhancers	Brain Hippocampus Middle	brain
28	chr4:160758200-160759400	Enhancers	Brain Substantia Nigra	brain
29	chr4:160766400-160767000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:160767000-160768200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:160771000-160783800	Weak transcription	Pancreas	Pancrea
32	chr4:160776000-160776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:160776400-160777000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:160777000-160778000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:160777400-160777600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:160777400-160778800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:160777600-160778000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr4:160777600-160778000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:160777600-160778200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr4:160777600-160778400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:160777600-160778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:160777600-160778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:160777800-160779200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:160778200-160778600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:160778600-160779000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:160778600-160779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:160782200-160783000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:160783000-160784200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:160784200-160785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:160784600-160784800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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