Variant report

Variant	nsv1004227
Chromosome Location	chr3:98751371-98803792
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	chr3:98798943..98801248-chr3:98801311..98803997,2	K562	blood:
2	chr3:98798943..98801248-chr3:98801311..98803997,2	K562	blood:

Extended variants
information (count: 520 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529708993	chr3:98751371-98751372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71313512	chr3:98751385-98751386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs189318906	chr3:98751390-98751391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180924462	chr3:98751396-98751397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386663799	chr3:98751403-98751404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2470792	chr3:98751404-98751405	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2462199	chr3:98751421-98751422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs184207613	chr3:98751434-98751435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567376155	chr3:98751457-98751458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536357035	chr3:98751522-98751523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553298315	chr3:98751533-98751534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543355526	chr3:98751558-98751559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375389131	chr3:98751581-98751582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372923878	chr3:98751584-98751585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537351915	chr3:98751587-98751588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9842555	chr3:98751591-98751592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2470793	chr3:98751606-98751607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs575500286	chr3:98751635-98751636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543807181	chr3:98751645-98751646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189914476	chr3:98751660-98751661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1082406	chr3:98751682-98751683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs79727066	chr3:98751717-98751718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72925099	chr3:98751737-98751738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181228427	chr3:98751752-98751753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151083396	chr3:98751782-98751783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1580372	chr3:98751785-98751786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs79627963	chr3:98751798-98751799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565286592	chr3:98751821-98751822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531115214	chr3:98751835-98751836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185979769	chr3:98751875-98751876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190491504	chr3:98751909-98751910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141014654	chr3:98751937-98751938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182009763	chr3:98751951-98751952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546806186	chr3:98751968-98751969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560336396	chr3:98751984-98751985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538697374	chr3:98751989-98751990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74482112	chr3:98752012-98752013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34458031	chr3:98752035-98752036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1580373	chr3:98752046-98752047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377505874	chr3:98752071-98752072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186268601	chr3:98752072-98752073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1580374	chr3:98752110-98752111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368400900	chr3:98752122-98752123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554768339	chr3:98752126-98752127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190779593	chr3:98752153-98752154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368079407	chr3:98752160-98752161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182906681	chr3:98752167-98752168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187544652	chr3:98752176-98752177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75262052	chr3:98752186-98752187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146525912	chr3:98752207-98752208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98747000-98753600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:98753600-98754000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:98767800-98768800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:98768000-98768400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:98768000-98768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:98768000-98768800	Enhancers	NHDF-Ad	bronchial
7	chr3:98768000-98769000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:98785800-98790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:98789000-98790200	Enhancers	Fetal Brain Male	brain
10	chr3:98789400-98789600	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:98789400-98790200	Enhancers	Brain Angular Gyrus	brain
12	chr3:98789400-98791000	Enhancers	Brain Substantia Nigra	brain
13	chr3:98789400-98791200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:98789800-98790200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:98789800-98790600	Enhancers	HMEC	breast
16	chr3:98789800-98790800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:98790400-98791200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:98790800-98791000	Enhancers	Aorta	Aorta
19	chr3:98790800-98791200	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:98802200-98804400	Enhancers	HMEC	breast
21	chr3:98802600-98803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:98802800-98804200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:98803000-98804200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:98803000-98804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:98803000-98804400	Enhancers	Osteobl	bone

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