Variant report

Variant	nsv606296
Chromosome Location	chr7:15468199-15538772
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	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:
2	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEOX2-5	chr7:15494576-15494813	NONHSAT119277

Extended variants
information (count: 2568 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2568 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11765688	chr7:15468199-15468200	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557627552	chr7:15468201-15468202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62439302	chr7:15468222-15468223	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573201926	chr7:15468308-15468309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543386211	chr7:15468315-15468316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561594094	chr7:15468316-15468317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13245471	chr7:15468338-15468339	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147197139	chr7:15468347-15468348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114393134	chr7:15468374-15468375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191607478	chr7:15468384-15468385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183240634	chr7:15468397-15468398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541693066	chr7:15468398-15468399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35202252	chr7:15468403-15468404	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530687292	chr7:15468406-15468407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188122604	chr7:15468424-15468425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193069434	chr7:15468461-15468462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528468048	chr7:15468499-15468500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546682799	chr7:15468502-15468503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568499510	chr7:15468539-15468540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185068355	chr7:15468543-15468544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557302617	chr7:15468553-15468554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75316188	chr7:15468608-15468609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540105844	chr7:15468619-15468620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76384143	chr7:15468622-15468623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533190887	chr7:15468633-15468634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144523213	chr7:15468689-15468690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541075706	chr7:15468717-15468718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553024393	chr7:15468721-15468722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574475895	chr7:15468754-15468755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151211783	chr7:15468790-15468791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189009630	chr7:15468825-15468826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530740057	chr7:15468830-15468831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192347518	chr7:15468839-15468840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564084088	chr7:15468912-15468913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528456166	chr7:15468966-15468967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546627186	chr7:15469022-15469023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568522974	chr7:15469029-15469030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529342921	chr7:15469044-15469045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551071105	chr7:15469084-15469085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530248400	chr7:15469090-15469091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147555951	chr7:15469093-15469094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569312435	chr7:15469207-15469208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540042547	chr7:15469216-15469217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558487968	chr7:15469253-15469254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547245590	chr7:15469256-15469257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567212432	chr7:15469258-15469259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184710146	chr7:15469261-15469262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188131850	chr7:15469263-15469264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574388946	chr7:15469276-15469277	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139196518	chr7:15469301-15469302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15455200-15469800	Weak transcription	Aorta	Aorta
2	chr7:15464600-15469200	Weak transcription	NHDF-Ad	bronchial
3	chr7:15466400-15469800	Strong transcription	Liver	Liver
4	chr7:15468000-15468600	Enhancers	Fetal Lung	lung
5	chr7:15469200-15469600	Enhancers	NHDF-Ad	bronchial
6	chr7:15469800-15489200	Weak transcription	Liver	Liver
7	chr7:15474000-15474200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:15474000-15474200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:15474000-15474200	Enhancers	Adipose Nuclei	Adipose
10	chr7:15474200-15474600	Active TSS	Adipose Nuclei	Adipose
11	chr7:15474200-15474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:15474200-15474800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:15474600-15475000	Enhancers	Adipose Nuclei	Adipose
14	chr7:15481200-15481800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr7:15485800-15486600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:15486000-15486600	Enhancers	Brain Hippocampus Middle	brain
17	chr7:15486000-15486800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:15486200-15486600	Enhancers	Brain Anterior Caudate	brain
19	chr7:15496000-15499400	Enhancers	Osteobl	bone
20	chr7:15496000-15504800	Enhancers	NHDF-Ad	bronchial
21	chr7:15496200-15499400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:15496200-15499600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:15496200-15501000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:15496800-15499200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:15497600-15497800	Enhancers	Fetal Stomach	stomach
26	chr7:15497600-15498400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:15497600-15498800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:15497600-15499000	Enhancers	HSMMtube	muscle
29	chr7:15497600-15499000	Enhancers	NHLF	lung
30	chr7:15497800-15498000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:15497800-15498200	Enhancers	Fetal Heart	heart
32	chr7:15498000-15498600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:15498000-15498600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:15498200-15498600	Weak transcription	Fetal Heart	heart
35	chr7:15498400-15499000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:15498400-15499000	Enhancers	Liver	Liver
37	chr7:15498400-15499200	Enhancers	Fetal Muscle Leg	muscle
38	chr7:15498600-15498800	Enhancers	Fetal Heart	heart
39	chr7:15498600-15499200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:15498800-15499000	Enhancers	HUVEC	blood vessel
41	chr7:15498800-15499200	Enhancers	Right Atrium	heart
42	chr7:15498800-15500600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:15498800-15502800	Weak transcription	Fetal Heart	heart
44	chr7:15499000-15499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:15499000-15499400	Enhancers	Fetal Brain Male	brain
46	chr7:15499000-15500600	Weak transcription	NHLF	lung
47	chr7:15499200-15501000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:15499200-15502000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:15499200-15503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:15499200-15504800	Weak transcription	Fetal Muscle Leg	muscle

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