Variant report

Variant	nsv4420
Chromosome Location	chr4:91616307-91661796
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	chr4:91643291..91645856-chr4:91647962..91650916,2	MCF-7	breast:
2	chr4:91643291..91645856-chr4:91647962..91650916,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-6	chr4:91645065-91645142	NONHSAT097411
2	lnc-MMRN1-6	chr4:91648355-91648448	NONHSAT097411

Extended variants
information (count: 808 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:808 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572160524	chr4:91618001-91618002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148166262	chr4:91618008-91618009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17017429	chr4:91618087-91618088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574778587	chr4:91618099-91618100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543877594	chr4:91618100-91618101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532750919	chr4:91618101-91618102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140353121	chr4:91618173-91618174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374327097	chr4:91618190-91618191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577263312	chr4:91618220-91618221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189248029	chr4:91618235-91618236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6842733	chr4:91618236-91618237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528714608	chr4:91618310-91618311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542388346	chr4:91618437-91618438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35040769	chr4:91618441-91618442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562292764	chr4:91618465-91618466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141065769	chr4:91618472-91618473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180998494	chr4:91618492-91618493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578031070	chr4:91618495-91618496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545622380	chr4:91618533-91618534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552018013	chr4:91618534-91618535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199719241	chr4:91618546-91618547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565743987	chr4:91618603-91618604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185890657	chr4:91618629-91618630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368303038	chr4:91618639-91618640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572278205	chr4:91618665-91618666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145087238	chr4:91618679-91618680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149009288	chr4:91618688-91618689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372321382	chr4:91618725-91618726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138592673	chr4:91618728-91618729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141605725	chr4:91618761-91618762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533023684	chr4:91618789-91618790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77170656	chr4:91618793-91618794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546163528	chr4:91618811-91618812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553219991	chr4:91618814-91618815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561206589	chr4:91618826-91618827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6848750	chr4:91618836-91618837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145258530	chr4:91618844-91618845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59497805	chr4:91618859-91618860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs137940168	chr4:91618892-91618893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191581764	chr4:91618910-91618911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562647097	chr4:91618916-91618917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544528765	chr4:91618920-91618921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564421419	chr4:91618953-91618954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532036364	chr4:91618988-91618989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182666519	chr4:91618990-91618991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114674834	chr4:91619082-91619083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149451230	chr4:91619102-91619103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528198483	chr4:91619129-91619130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144191325	chr4:91619188-91619189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114027354	chr4:91619235-91619236	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
Breast cancer	22522925	CNVD
Esophageal adenocarcinoma	18519675	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91618000-91618400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:91618000-91619800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:91618400-91619600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:91619600-91620200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:91628800-91629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr4:91630600-91630800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr4:91635400-91637000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:91640200-91640400	Enhancers	Pancreas	Pancrea
9	chr4:91643800-91644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:91643800-91646200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:91644000-91644400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:91644000-91644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:91644200-91644600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:91644200-91649200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:91644400-91645600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:91644600-91644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:91644600-91648600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:91644800-91648600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:91645600-91645800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:91645800-91646200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:91646200-91646400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:91646200-91648600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:91646400-91648400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:91648400-91648800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:91648400-91649200	Weak transcription	Gastric	stomach
26	chr4:91648400-91650000	Enhancers	NHEK	skin
27	chr4:91648400-91650400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:91648600-91648800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:91648600-91649000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:91648600-91649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:91648600-91649400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:91648600-91649800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr4:91648600-91649800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:91648600-91650000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:91648600-91650000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:91648600-91650000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:91648600-91650000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:91648600-91650200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:91648600-91650200	Enhancers	HMEC	breast
40	chr4:91648600-91650400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:91648800-91649200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:91648800-91649600	Enhancers	NH-A	brain
43	chr4:91648800-91649800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr4:91648800-91649800	Enhancers	Hela-S3	cervix
45	chr4:91648800-91650000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:91649200-91649400	Enhancers	Gastric	stomach
47	chr4:91649200-91649800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:91649200-91649800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:91649200-91650000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:91649800-91654000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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