Variant report

Variant	esv2755332
Chromosome Location	chr4:91782522-91869222
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	chr4:91852901..91854408-chr4:91856866..91859339,2	MCF-7	breast:
2	chr4:91852901..91854408-chr4:91856866..91859339,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MMRN1-7	chr4:91832406-91832508	NONHSAT097412
2	lnc-MMRN1-7	chr4:91844521-91844598	NONHSAT097412

Extended variants
information (count: 857 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556707081	chr4:91783400-91783401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555933416	chr4:91783431-91783432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576977717	chr4:91783451-91783452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142777958	chr4:91783454-91783455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570890066	chr4:91783468-91783469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553170613	chr4:91783494-91783495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76475989	chr4:91783506-91783507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573332494	chr4:91783520-91783521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192621630	chr4:91783528-91783529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28526093	chr4:91783569-91783570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184840624	chr4:91783602-91783603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544937574	chr4:91783614-91783615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564805571	chr4:91783707-91783708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147376533	chr4:91783747-91783748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150114545	chr4:91796031-91796032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145497081	chr4:91796033-91796034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575773122	chr4:91796082-91796083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544519125	chr4:91796083-91796084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563355382	chr4:91796099-91796100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566632747	chr4:91796100-91796101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534019265	chr4:91796102-91796103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567616533	chr4:91796131-91796132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201127082	chr4:91796207-91796208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375116823	chr4:91796220-91796221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74931491	chr4:91796223-91796224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536355143	chr4:91796250-91796251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558936030	chr4:91796299-91796300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7689560	chr4:91796311-91796312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538400892	chr4:91796320-91796321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370048676	chr4:91796330-91796331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548440712	chr4:91796355-91796356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375833090	chr4:91796361-91796362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556602429	chr4:91796370-91796371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7689600	chr4:91796381-91796382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530725102	chr4:91796449-91796450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188592586	chr4:91796543-91796544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192619410	chr4:91796546-91796547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56664095	chr4:91796602-91796603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546983005	chr4:91796750-91796751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145278616	chr4:91796769-91796770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114849933	chr4:91796781-91796782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35186052	chr4:91796787-91796788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6848010	chr4:91796795-91796796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs28595440	chr4:91796803-91796804	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs137873220	chr4:91796826-91796827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529091784	chr4:91796843-91796844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557950075	chr4:91796920-91796921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576493847	chr4:91796936-91796937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545475115	chr4:91796947-91796948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184777011	chr4:91796964-91796965	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	21272361	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91783400-91783800	Enhancers	Brain Germinal Matrix	brain
2	chr4:91796000-91796400	Enhancers	Brain Substantia Nigra	brain
3	chr4:91796200-91797200	Enhancers	Fetal Lung	lung
4	chr4:91796800-91797200	Enhancers	Brain Germinal Matrix	brain
5	chr4:91796800-91797400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:91797200-91797600	Weak transcription	Fetal Lung	lung
7	chr4:91797600-91799400	Enhancers	Fetal Lung	lung
8	chr4:91797800-91798000	Enhancers	Colon Smooth Muscle	Colon
9	chr4:91798000-91799200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:91798200-91798600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:91798200-91799400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:91799200-91799600	Enhancers	Colon Smooth Muscle	Colon
13	chr4:91801800-91802200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:91804600-91805200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:91804800-91805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:91809400-91810200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:91809800-91810200	Enhancers	Fetal Lung	lung
18	chr4:91810000-91810800	Enhancers	HUVEC	blood vessel
19	chr4:91810200-91811800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:91811600-91811800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:91811600-91811800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:91811800-91812000	Enhancers	Fetal Lung	lung
23	chr4:91820800-91821200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:91823200-91826000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:91824800-91826000	Enhancers	HUVEC	blood vessel
26	chr4:91824800-91826400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:91825200-91825800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr4:91825200-91826200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:91825200-91826400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:91825200-91826800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:91825200-91826800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:91825400-91825800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:91825400-91825800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:91825400-91826600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:91825600-91826000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:91826000-91827000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:91826200-91826800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:91826800-91827000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:91832600-91833400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
40	chr4:91833000-91833400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr4:91844000-91847000	Weak transcription	Pancreas	Pancrea
42	chr4:91860200-91861800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:91860600-91860800	Enhancers	Gastric	stomach
44	chr4:91860800-91869200	Weak transcription	Gastric	stomach
45	chr4:91865600-91865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:91865800-91866200	Active TSS	A549	lung
47	chr4:91866200-91868000	Weak transcription	A549	lung
48	chr4:91867600-91868400	Enhancers	Hela-S3	cervix
49	chr4:91868000-91868400	Enhancers	A549	lung
50	chr4:91868400-91870600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links