Variant report

Variant	nsv591813
Chromosome Location	chr3:133133095-133136961
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	chr3:133127092..133128594-chr3:133130623..133133431,2	K562	blood:
2	chr3:133130542..133132514-chr3:133135726..133138397,2	K562	blood:

Extended variants
information (count: 258 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11711011	chr3:133133095-133133096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552758029	chr3:133133113-133133114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150193935	chr3:133133126-133133127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556137734	chr3:133133139-133133140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572915371	chr3:133133160-133133161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11710993	chr3:133133184-133133185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572628299	chr3:133133211-133133212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370902299	chr3:133133232-133133233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559741489	chr3:133133312-133133313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2699876	chr3:133133317-133133318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200895323	chr3:133133320-133133321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555612081	chr3:133133327-133133328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2699877	chr3:133133352-133133353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112939005	chr3:133133408-133133409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564692028	chr3:133133422-133133423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575602145	chr3:133133468-133133469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544566984	chr3:133133487-133133488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193204202	chr3:133133493-133133494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113300346	chr3:133133553-133133554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs80073401	chr3:133133559-133133560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75619310	chr3:133133561-133133562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7372238	chr3:133133564-133133565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371343491	chr3:133133582-133133583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368745342	chr3:133133583-133133584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372803425	chr3:133133584-133133585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114051217	chr3:133133585-133133586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540640182	chr3:133133589-133133590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560335850	chr3:133133594-133133595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7372239	chr3:133133621-133133622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550349642	chr3:133133629-133133630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148531613	chr3:133133631-133133632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55987733	chr3:133133638-133133639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529395038	chr3:133133654-133133655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372041023	chr3:133133655-133133656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566105882	chr3:133133663-133133664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565699651	chr3:133133664-133133665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534311165	chr3:133133667-133133668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562786482	chr3:133133670-133133671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139835364	chr3:133133697-133133698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145368640	chr3:133133712-133133713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551690064	chr3:133133718-133133719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571622556	chr3:133133721-133133722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150635727	chr3:133133722-133133723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs386666046	chr3:133133730-133133731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200313229	chr3:133133789-133133790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368741249	chr3:133133799-133133800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184726391	chr3:133133804-133133805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111779197	chr3:133133811-133133812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs202242051	chr3:133133824-133133825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112124504	chr3:133133826-133133827	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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133124600-133138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:133131400-133133200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:133132000-133133200	Enhancers	Fetal Stomach	stomach
4	chr3:133132800-133133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:133132800-133133200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr3:133133000-133133200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:133133000-133140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:133134400-133135200	Active TSS	Spleen	Spleen

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