Variant report

Variant	nsv822284
Chromosome Location	chr3:147082368-147083110
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	chr3:147080801..147083762-chr3:147109705..147112300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174963	chromatin interactions
ENSG00000152977	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566518418	chr3:147082407-147082408	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs1503733	chr3:147082427-147082428	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs541759651	chr3:147082460-147082461	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190665675	chr3:147082472-147082473	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116601482	chr3:147082589-147082590	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571796715	chr3:147082594-147082595	Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540860764	chr3:147082611-147082612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182750830	chr3:147082612-147082613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs79981589	chr3:147082652-147082653	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543368259	chr3:147082662-147082663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs563557548	chr3:147082684-147082685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs4681356	chr3:147082740-147082741	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs188002328	chr3:147082741-147082742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs566220280	chr3:147082758-147082759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs192840673	chr3:147082772-147082773	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs145201598	chr3:147082775-147082776	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571893800	chr3:147082777-147082778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77831829	chr3:147082782-147082783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149210232	chr3:147082861-147082862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs567944173	chr3:147082882-147082883	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs73004607	chr3:147082898-147082899	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11712751	chr3:147082910-147082911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372779304	chr3:147082939-147082940	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540748403	chr3:147082940-147082941	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184673739	chr3:147082941-147082942	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187971933	chr3:147082948-147082949	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543557263	chr3:147082993-147082994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs563482788	chr3:147083007-147083008	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529179763	chr3:147083008-147083009	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77445285	chr3:147083031-147083032	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375448329	chr3:147083076-147083077	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs74622076	chr3:147083083-147083084	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368581049	chr3:147083090-147083091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141742603	chr3:147083100-147083101	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:147077600-147083400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:147082400-147082600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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