Variant report

Variant	nsv966959
Chromosome Location	chr3:144952339-144969892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144968846..144970924-chr3:144975225..144978166,2	MCF-7	breast:
2	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:
3	chr3:144956656..144959403-chr3:144961256..144963279,2	K562	blood:

Extended variants
information (count: 439 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11364456	chr3:144952854-144952855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs150313685	chr3:144952865-144952866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557371802	chr3:144952900-144952901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9881007	chr3:144952905-144952906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562130562	chr3:144952912-144952913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs555785254	chr3:144952926-144952927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs561415050	chr3:144952936-144952937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538313787	chr3:144952976-144952977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540438023	chr3:144953075-144953076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565004805	chr3:144953097-144953098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556810102	chr3:144953103-144953104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs181398096	chr3:144953145-144953146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs574380373	chr3:144953146-144953147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs186660047	chr3:144953172-144953173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs544133487	chr3:144953177-144953178	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562133089	chr3:144953237-144953238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs529685677	chr3:144953321-144953322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547832652	chr3:144953334-144953335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145011389	chr3:144953336-144953337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528645552	chr3:144953347-144953348	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73014097	chr3:144953358-144953359	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs73014098	chr3:144953386-144953387	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376708430	chr3:144953395-144953396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140957390	chr3:144953413-144953414	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs557728329	chr3:144953454-144953455	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs144891094	chr3:144953476-144953477	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs369002329	chr3:144953552-144953553	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs540685162	chr3:144953554-144953555	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs138758174	chr3:144953559-144953560	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555065156	chr3:144953573-144953574	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141984243	chr3:144953576-144953577	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370308748	chr3:144953580-144953581	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs554444318	chr3:144953588-144953589	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs143649292	chr3:144953607-144953608	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs572790322	chr3:144953643-144953644	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs76006410	chr3:144953656-144953657	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562443777	chr3:144953664-144953665	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529605344	chr3:144953689-144953690	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532669620	chr3:144953690-144953691	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79383670	chr3:144953726-144953727	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs559966372	chr3:144953749-144953750	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs540234314	chr3:144953772-144953773	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs558220662	chr3:144953800-144953801	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374299317	chr3:144953821-144953822	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148077863	chr3:144953822-144953823	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552021897	chr3:144953888-144953889	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188153625	chr3:144953890-144953891	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs532800969	chr3:144953900-144953901	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs576553298	chr3:144953902-144953903	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs551249071	chr3:144953958-144953959	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144952800-144955400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:144953400-144954200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:144959400-144960000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:144960000-144962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:144960600-144960800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:144960600-144960800	Bivalent Enhancer	NH-A	brain
7	chr3:144960600-144960800	Enhancers	NHLF	lung
8	chr3:144960800-144961800	Weak transcription	NHLF	lung
9	chr3:144960800-144962400	Enhancers	NH-A	brain
10	chr3:144961000-144962000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:144961000-144962600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:144961200-144961800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:144961400-144962400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:144961600-144962400	Enhancers	NHDF-Ad	bronchial
15	chr3:144961600-144963000	Enhancers	HMEC	breast
16	chr3:144961800-144962400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:144961800-144962400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:144961800-144962400	Enhancers	NHEK	skin
19	chr3:144961800-144962400	Enhancers	NHLF	lung
20	chr3:144962000-144962800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:144962000-144962800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:144962200-144962400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:144962200-144962800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:144965800-144970200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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