Variant report

Variant	nsv1010992
Chromosome Location	chr3:68353191-68388825
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	chr3:68362451..68362951-chr7:120590619..120591187,2	MCF-7	breast:
2	chr3:68344569..68347557-chr3:68353420..68355980,2	K562	blood:

Variant related genes	Relation type
ENSG00000071243	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537369650	chr3:68362473-68362474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs189491581	chr3:68362495-68362496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181183464	chr3:68362503-68362504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72626960	chr3:68362504-68362505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73099637	chr3:68362524-68362525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140552205	chr3:68362625-68362626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562071062	chr3:68362629-68362630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572208037	chr3:68362668-68362669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186375772	chr3:68362675-68362676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368458593	chr3:68362714-68362715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564354647	chr3:68362751-68362752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72626961	chr3:68362767-68362768	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs116896641	chr3:68362775-68362776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563826013	chr3:68362785-68362786	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189262633	chr3:68362808-68362809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528924342	chr3:68362877-68362878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527773046	chr3:68362906-68362907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113697354	chr3:68362910-68362911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530231148	chr3:68372000-68372001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182723614	chr3:68372005-68372006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560765091	chr3:68372018-68372019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532593356	chr3:68372032-68372033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142085126	chr3:68372040-68372041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569217395	chr3:68372050-68372051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568215449	chr3:68372111-68372112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72626975	chr3:68372133-68372134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547804940	chr3:68372159-68372160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77246187	chr3:68372163-68372164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188979908	chr3:68372207-68372208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533676201	chr3:68372213-68372214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192045873	chr3:68372214-68372215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577016732	chr3:68372224-68372225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539263746	chr3:68372260-68372261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145843763	chr3:68372270-68372271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563087178	chr3:68372285-68372286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576424402	chr3:68372343-68372344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550793239	chr3:68372348-68372349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147772722	chr3:68372401-68372402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184127943	chr3:68372422-68372423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187401819	chr3:68372487-68372488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560373025	chr3:68372533-68372534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1388506	chr3:68372549-68372550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs552500650	chr3:68372566-68372567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562715263	chr3:68372594-68372595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531900632	chr3:68372649-68372650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79246321	chr3:68372670-68372671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567747724	chr3:68372680-68372681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373423932	chr3:68372687-68372688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4568137	chr3:68372690-68372691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs570453474	chr3:68372742-68372743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68372000-68374600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:68379400-68379800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links