Variant report

Variant	nsv437924
Chromosome Location	chr4:91171790-91197792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:91184499..91186906-chr4:91187123..91189039,2	MCF-7	breast:
2	chr4:91048337..91050046-chr4:91171503..91174117,2	MCF-7	breast:
3	chr4:91169608..91171320-chr4:91173409..91175052,2	MCF-7	breast:
4	chr4:91048863..91050461-chr4:91183370..91185880,2	MCF-7	breast:
5	chr4:91184499..91186906-chr4:91187123..91189039,2	MCF-7	breast:
6	chr4:91047274..91050081-chr4:91174126..91176725,3	MCF-7	breast:
7	chr4:91048643..91051024-chr4:91179121..91181486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184305	chromatin interactions

Extended variants
information (count: 624 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6848616	chr4:91171790-91171791	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550123469	chr4:91171822-91171823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371153522	chr4:91171839-91171840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569967989	chr4:91171856-91171857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191841353	chr4:91171910-91171911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73832733	chr4:91171921-91171922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536743637	chr4:91171956-91171957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183824920	chr4:91171958-91171959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113940054	chr4:91171976-91171977	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs146912002	chr4:91171978-91171979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188377614	chr4:91172063-91172064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193053089	chr4:91172106-91172107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558795378	chr4:91172112-91172113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs556089577	chr4:91172162-91172163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577219604	chr4:91172187-91172188	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575987755	chr4:91172199-91172200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs544529191	chr4:91172206-91172207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11931823	chr4:91172252-91172253	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139322694	chr4:91172284-91172285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571898269	chr4:91172329-91172330	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149408864	chr4:91172346-91172347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143743342	chr4:91172365-91172366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185613478	chr4:91172409-91172410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190769524	chr4:91172410-91172411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs535757447	chr4:91172415-91172416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532451184	chr4:91172416-91172417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs6832140	chr4:91172438-91172439	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566138507	chr4:91172445-91172446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs77461579	chr4:91172449-91172450	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61529592	chr4:91172457-91172458	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs60438266	chr4:91172484-91172485	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537733358	chr4:91172524-91172525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557396823	chr4:91172546-91172547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569630882	chr4:91172572-91172573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs544085892	chr4:91172576-91172577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs148008958	chr4:91172583-91172584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141702966	chr4:91172607-91172608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561098969	chr4:91172633-91172634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571759792	chr4:91172691-91172692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60654585	chr4:91172708-91172709	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554736314	chr4:91172732-91172733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547662809	chr4:91172737-91172738	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543701245	chr4:91172796-91172797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571064365	chr4:91172812-91172813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10020742	chr4:91172835-91172836	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs72877744	chr4:91172855-91172856	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183946895	chr4:91172999-91173000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs79061261	chr4:91173012-91173013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs72877745	chr4:91173070-91173071	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs72877746	chr4:91173102-91173103	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Multiple myeloma	17550852	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91168400-91175400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:91175200-91176000	Enhancers	NHEK	skin
3	chr4:91175400-91175800	Enhancers	Pancreas	Pancrea
4	chr4:91175400-91176000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:91175400-91176000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:91175600-91176000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:91175600-91176000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:91182200-91183600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:91182400-91187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:91183800-91187600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:91187600-91188000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:91187600-91188000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:91187600-91188000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:91187600-91188000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:91187800-91188000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:91194800-91195400	Enhancers	Fetal Intestine Large	intestine
17	chr4:91194800-91195400	Enhancers	Fetal Intestine Small	intestine
18	chr4:91195400-91200000	Weak transcription	Fetal Intestine Large	intestine
19	chr4:91195400-91201400	Weak transcription	Fetal Intestine Small	intestine

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