Variant report

Variant	nsv518461
Chromosome Location	chr7:21143998-21147678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 212 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs10950838	chr7:21143998-21143999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543471686	chr7:21144026-21144027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527744259	chr7:21144028-21144029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185930048	chr7:21144034-21144035	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12673221	chr7:21144053-21144054	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370741187	chr7:21144055-21144056	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs117471002	chr7:21144101-21144102	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs545127692	chr7:21144103-21144104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566397215	chr7:21144115-21144116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs148019291	chr7:21144165-21144166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528820556	chr7:21144171-21144172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547398463	chr7:21144176-21144177	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73277532	chr7:21144220-21144221	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565015273	chr7:21144223-21144224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555990626	chr7:21144237-21144238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367934698	chr7:21144238-21144239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141669396	chr7:21144256-21144257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527309598	chr7:21144277-21144278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538472710	chr7:21144295-21144296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558404229	chr7:21144298-21144299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111656802	chr7:21144328-21144329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571988218	chr7:21144331-21144332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115195533	chr7:21144333-21144334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554539765	chr7:21144335-21144336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574744397	chr7:21144350-21144351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577608860	chr7:21144354-21144355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561532071	chr7:21144361-21144362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190400416	chr7:21144419-21144420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563646526	chr7:21144423-21144424	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs74845866	chr7:21144455-21144456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546395056	chr7:21144457-21144458	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150518675	chr7:21144473-21144474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543540107	chr7:21144498-21144499	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528781967	chr7:21144510-21144511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563400971	chr7:21144567-21144568	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548949738	chr7:21144581-21144582	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs567226837	chr7:21144599-21144600	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529668813	chr7:21144651-21144652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549815883	chr7:21144659-21144660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74603438	chr7:21144686-21144687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76370747	chr7:21144732-21144733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139471003	chr7:21144823-21144824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559524312	chr7:21144833-21144834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373242810	chr7:21144840-21144841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111789543	chr7:21144858-21144859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72213360	chr7:21144860-21144861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10605762	chr7:21144862-21144863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59682919	chr7:21144863-21144864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201874173	chr7:21144872-21144873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373353765	chr7:21144874-21144875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Endometrioid adenocarcinoma	16974079	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21140200-21145400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:21140400-21144000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:21141800-21144000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:21142400-21144000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr7:21142400-21144800	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:21143200-21144200	Enhancers	Stomach Mucosa	stomach
7	chr7:21143400-21144400	Enhancers	Fetal Intestine Small	intestine
8	chr7:21143400-21144400	Enhancers	Pancreas	Pancrea
9	chr7:21144000-21144200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr7:21144000-21144800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:21144000-21145800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21144200-21144400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr7:21144400-21144600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr7:21144400-21148000	Enhancers	HMEC	breast
15	chr7:21144600-21148800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:21144800-21148200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:21145200-21148600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:21145400-21147200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:21145400-21148200	Enhancers	NHEK	skin
20	chr7:21145800-21146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:21146000-21146600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:21146200-21147200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:21146600-21146800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:21146600-21147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:21146800-21147800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:21147000-21149000	Enhancers	Fetal Heart	heart
27	chr7:21147200-21153400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:21147600-21148000	Enhancers	Brain Germinal Matrix	brain
29	chr7:21147600-21148800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links