Variant report

Variant	nsv594834
Chromosome Location	chr4:91866171-91872431
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	chr4:91871450..91872421-chr4:91953829..91954477,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-7	chr4:91872265-91872463	NONHSAT097412

Extended variants
information (count: 237 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10433957	chr4:91866171-91866172	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546751732	chr4:91866178-91866179	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568159660	chr4:91866196-91866197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549942620	chr4:91866219-91866220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530634492	chr4:91866251-91866252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34486636	chr4:91866269-91866270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35428724	chr4:91866413-91866414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115637753	chr4:91866418-91866419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571591428	chr4:91866424-91866425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148461902	chr4:91866446-91866447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539328171	chr4:91866494-91866495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561417372	chr4:91866496-91866497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6532261	chr4:91866501-91866502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535266139	chr4:91866506-91866507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547679577	chr4:91866584-91866585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566099621	chr4:91866601-91866602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144080682	chr4:91866645-91866646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7688258	chr4:91866648-91866649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs115869268	chr4:91866667-91866668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145995546	chr4:91866721-91866722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557838323	chr4:91866744-91866745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527606540	chr4:91866767-91866768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376844918	chr4:91866770-91866771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145538344	chr4:91866792-91866793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577946574	chr4:91866817-91866818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189885087	chr4:91866818-91866819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182104571	chr4:91866823-91866824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529662251	chr4:91866877-91866878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187318418	chr4:91866888-91866889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570126744	chr4:91866947-91866948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60245095	chr4:91866987-91866988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537293893	chr4:91866991-91866992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557776233	chr4:91867038-91867039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571140693	chr4:91867041-91867042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530490696	chr4:91867132-91867133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550676408	chr4:91867209-91867210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35344124	chr4:91867212-91867213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114229941	chr4:91867238-91867239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369186433	chr4:91867252-91867253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76210852	chr4:91867265-91867266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199752171	chr4:91867292-91867293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556800537	chr4:91867325-91867326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577153103	chr4:91867332-91867333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546234827	chr4:91867396-91867397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139641038	chr4:91867459-91867460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535368532	chr4:91867460-91867461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548732756	chr4:91867469-91867470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569054395	chr4:91867527-91867528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528844909	chr4:91867573-91867574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537671195	chr4:91867618-91867619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	21272361	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91860800-91869200	Weak transcription	Gastric	stomach
2	chr4:91865800-91866200	Active TSS	A549	lung
3	chr4:91866200-91868000	Weak transcription	A549	lung
4	chr4:91867600-91868400	Enhancers	Hela-S3	cervix
5	chr4:91868000-91868400	Enhancers	A549	lung
6	chr4:91868400-91870600	Weak transcription	Hela-S3	cervix
7	chr4:91868400-91871000	Weak transcription	A549	lung
8	chr4:91870600-91871200	Enhancers	Hela-S3	cervix
9	chr4:91871000-91871200	Enhancers	Gastric	stomach
10	chr4:91871000-91871400	Enhancers	A549	lung
11	chr4:91871000-91872200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:91871000-91872200	Enhancers	Fetal Intestine Large	intestine
13	chr4:91871000-91872200	Enhancers	Fetal Intestine Small	intestine
14	chr4:91871200-91871400	Enhancers	HUVEC	blood vessel
15	chr4:91871200-91871600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:91871200-91872000	Flanking Active TSS	Hela-S3	cervix
17	chr4:91871400-91871600	Active TSS	A549	lung
18	chr4:91871400-91871800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:91871400-91872000	Enhancers	Fetal Heart	heart
20	chr4:91871400-91872600	Flanking Active TSS	HUVEC	blood vessel
21	chr4:91871600-91871800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:91871600-91871800	Flanking Active TSS	Aorta	Aorta
23	chr4:91871600-91871800	Enhancers	Pancreas	Pancrea
24	chr4:91871600-91871800	Flanking Active TSS	A549	lung
25	chr4:91871600-91872000	Enhancers	Fetal Lung	lung
26	chr4:91871600-91872200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:91871600-91872200	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:91871600-91872200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:91871600-91872200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr4:91871600-91872400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:91871600-91872400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:91871600-91872600	Enhancers	NHEK	skin
33	chr4:91871800-91872000	Enhancers	Aorta	Aorta
34	chr4:91871800-91872000	Enhancers	Rectal Smooth Muscle	rectum
35	chr4:91871800-91872600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:91871800-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:91871800-91872600	Active TSS	A549	lung
38	chr4:91871800-91872600	Enhancers	NH-A	brain
39	chr4:91871800-91872800	Enhancers	HMEC	breast
40	chr4:91871800-91879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:91872000-91872200	Enhancers	Colon Smooth Muscle	Colon
42	chr4:91872000-91872600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:91872000-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:91872000-91872800	Weak transcription	Fetal Lung	lung
45	chr4:91872000-91873200	Enhancers	Hela-S3	cervix
46	chr4:91872000-91879600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:91872200-91872600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:91872200-91872600	Enhancers	Fetal Kidney	kidney
49	chr4:91872200-91878200	Weak transcription	Fetal Intestine Small	intestine
50	chr4:91872200-91879000	Weak transcription	Fetal Intestine Large	intestine

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