Variant report

Variant	nsv877608
Chromosome Location	chr3:145303492-145362754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:145351605..145353581-chr3:145359076..145360606,2	MCF-7	breast:
2	chr3:145351605..145353581-chr3:145359076..145360606,2	MCF-7	breast:
3	chr17:57783949..57786666-chr3:145323683..145325682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062716	chromatin interactions
ENSG00000141378	chromatin interactions

Extended variants
information (count: 645 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114710803	chr3:145323693-145323694	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs141529064	chr3:145323697-145323698	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1608312	chr3:145323711-145323712	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2222724	chr3:145323803-145323804	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs191148825	chr3:145323828-145323829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560462980	chr3:145323901-145323902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375570686	chr3:145323906-145323907	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs527287558	chr3:145323931-145323932	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs183700712	chr3:145323961-145323962	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570469591	chr3:145323963-145323964	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559876143	chr3:145323995-145323996	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547382237	chr3:145324017-145324018	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190464353	chr3:145324036-145324037	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150873281	chr3:145324037-145324038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1608311	chr3:145324049-145324050	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs138491476	chr3:145324058-145324059	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs573151941	chr3:145324080-145324081	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533939544	chr3:145324085-145324086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs558874061	chr3:145324092-145324093	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577149886	chr3:145324146-145324147	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs530894724	chr3:145324260-145324261	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544728247	chr3:145324268-145324269	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs193140199	chr3:145324295-145324296	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185268914	chr3:145324298-145324299	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541999503	chr3:145324333-145324334	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560468178	chr3:145324384-145324385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs567443452	chr3:145324395-145324396	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs80049404	chr3:145324400-145324401	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527549606	chr3:145324420-145324421	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs111964926	chr3:145324422-145324423	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369577673	chr3:145324426-145324427	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34100578	chr3:145324430-145324431	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564136377	chr3:145324480-145324481	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs10935575	chr3:145324493-145324494	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549887554	chr3:145324520-145324521	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7609585	chr3:145324552-145324553	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567252026	chr3:145324629-145324630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561058227	chr3:145324645-145324646	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528604418	chr3:145324690-145324691	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs548331670	chr3:145324704-145324705	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566836044	chr3:145324755-145324756	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534540608	chr3:145324756-145324757	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs28797495	chr3:145324806-145324807	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190098410	chr3:145324827-145324828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537850813	chr3:145324993-145324994	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs62270371	chr3:145325001-145325002	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs557265746	chr3:145325005-145325006	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs569467370	chr3:145325052-145325053	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532826720	chr3:145325110-145325111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535942077	chr3:145325116-145325117	Inactive region	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
Breast cancer	21509527	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145329000-145329200	ZNF genes & repeats	Pancreas	Pancrea
2	chr3:145337400-145338600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:145337600-145338000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:145337800-145338600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:145341200-145341600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:145344000-145344600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:145346000-145346400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:145346000-145346400	Enhancers	HMEC	breast
9	chr3:145349400-145359600	Weak transcription	Aorta	Aorta
10	chr3:145354000-145354400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:145356600-145358400	Enhancers	Fetal Heart	heart
12	chr3:145357200-145358400	Enhancers	Fetal Intestine Large	intestine
13	chr3:145357400-145358400	Enhancers	HepG2	liver
14	chr3:145358400-145363200	Weak transcription	Fetal Intestine Large	intestine
15	chr3:145359600-145359800	Enhancers	Aorta	Aorta

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