Variant report

Variant	nsv877625
Chromosome Location	chr3:146461435-146521978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:146465618..146466350-chr3:146909313..146909963,2	MCF-7	breast:
2	chr3:146477908..146479521-chr3:146482688..146484661,2	K562	blood:
3	chr3:146477908..146479521-chr3:146482688..146484661,2	K562	blood:

Extended variants
information (count: 1678 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538605583	chr3:146461646-146461647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76308068	chr3:146461659-146461660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557820820	chr3:146461660-146461661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377266048	chr3:146461721-146461722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148649807	chr3:146461742-146461743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144188755	chr3:146461810-146461811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376618247	chr3:146461819-146461820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs557304659	chr3:146461830-146461831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147773163	chr3:146461861-146461862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367915378	chr3:146461921-146461922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561622298	chr3:146461929-146461930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141411877	chr3:146461948-146461949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147014797	chr3:146462049-146462050	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs564205405	chr3:146462118-146462119	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs189548184	chr3:146462140-146462141	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549934394	chr3:146462150-146462151	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs151019642	chr3:146462219-146462220	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114487034	chr3:146462220-146462221	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs548874022	chr3:146462240-146462241	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535814461	chr3:146462270-146462271	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs182197344	chr3:146462298-146462299	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551510837	chr3:146462340-146462341	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs571695624	chr3:146462351-146462352	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs537162383	chr3:146462359-146462360	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557499555	chr3:146462406-146462407	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567865360	chr3:146462449-146462450	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs185196779	chr3:146462451-146462452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190393686	chr3:146462461-146462462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556949895	chr3:146462500-146462501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs541006325	chr3:146462501-146462502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs557502989	chr3:146462529-146462530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs577633589	chr3:146462541-146462542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543176139	chr3:146462558-146462559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs563455776	chr3:146462596-146462597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369202337	chr3:146462601-146462602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529044172	chr3:146462627-146462628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80222462	chr3:146462631-146462632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140818095	chr3:146462648-146462649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543336510	chr3:146462676-146462677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34395643	chr3:146462677-146462678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79481980	chr3:146462730-146462731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551715524	chr3:146462737-146462738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571571372	chr3:146462744-146462745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530990172	chr3:146462757-146462758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79458424	chr3:146462758-146462759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150153276	chr3:146462763-146462764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536838052	chr3:146462782-146462783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553631714	chr3:146462859-146462860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17436765	chr3:146462862-146462863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538979963	chr3:146462882-146462883	Weak transcription	n/a	n/a	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	18451855	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146461600-146462600	ZNF genes & repeats	Dnd41	blood
2	chr3:146462000-146462200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:146462200-146462400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:146462200-146462400	Enhancers	HMEC	breast
5	chr3:146462400-146463400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:146462400-146463400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:146462600-146464000	Weak transcription	Dnd41	blood
8	chr3:146462600-146464000	Weak transcription	HMEC	breast
9	chr3:146463400-146463600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:146463400-146463800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:146463400-146464200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:146463400-146464600	Enhancers	NHEK	skin
13	chr3:146463400-146466000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:146463400-146466200	Enhancers	HUVEC	blood vessel
15	chr3:146463400-146467200	Enhancers	HSMM	muscle
16	chr3:146463400-146467200	Enhancers	Osteobl	bone
17	chr3:146463600-146464000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr3:146463600-146464600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:146463600-146467200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:146463800-146464200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:146463800-146467600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:146464000-146464400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:146464000-146464600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:146464000-146464800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:146464000-146464800	Enhancers	HMEC	breast
26	chr3:146464000-146465000	Enhancers	NH-A	brain
27	chr3:146464000-146465000	Enhancers	NHDF-Ad	bronchial
28	chr3:146464000-146467200	Enhancers	Dnd41	blood
29	chr3:146464000-146468800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:146464200-146464400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:146464200-146465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:146464400-146465400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:146464400-146465400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:146464600-146465600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:146464600-146465600	Weak transcription	NHEK	skin
36	chr3:146464600-146467000	Enhancers	HSMMtube	muscle
37	chr3:146464800-146465200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:146464800-146468200	Weak transcription	HMEC	breast
39	chr3:146465000-146465400	Weak transcription	NH-A	brain
40	chr3:146465000-146475600	Weak transcription	NHDF-Ad	bronchial
41	chr3:146465200-146466400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:146465400-146465600	Enhancers	Fetal Heart	heart
43	chr3:146465400-146465800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:146465400-146465800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:146465400-146466000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:146465400-146466000	Enhancers	NH-A	brain
47	chr3:146465400-146466200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:146465600-146465800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:146465600-146466200	Enhancers	Colon Smooth Muscle	Colon
50	chr3:146465600-146466400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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