Variant report

Variant	nsv460769
Chromosome Location	chr3:98766326-98804408
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: 377 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2449006	chr3:98767815-98767816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140463410	chr3:98767822-98767823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59480491	chr3:98767852-98767853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564759212	chr3:98767957-98767958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577928915	chr3:98768005-98768006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374158060	chr3:98768028-98768029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2449007	chr3:98768040-98768041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs563570653	chr3:98768047-98768048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529334904	chr3:98768052-98768053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549498991	chr3:98768060-98768061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2462211	chr3:98768124-98768125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs528440470	chr3:98768131-98768132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73137925	chr3:98768145-98768146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182303352	chr3:98768190-98768191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs63138960	chr3:98768199-98768200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571533018	chr3:98768216-98768217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531153521	chr3:98768227-98768228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537371012	chr3:98768258-98768259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80193078	chr3:98768268-98768269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs36077695	chr3:98768295-98768296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550778875	chr3:98768299-98768300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552812329	chr3:98768350-98768351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186148346	chr3:98768370-98768371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367673563	chr3:98768456-98768457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536348259	chr3:98768458-98768459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56197329	chr3:98768469-98768470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2462212	chr3:98768499-98768500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs538592208	chr3:98768578-98768579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558287797	chr3:98768584-98768585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577897942	chr3:98768644-98768645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35086114	chr3:98768674-98768675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs2470813	chr3:98768675-98768676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs139593845	chr3:98768689-98768690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144309477	chr3:98768699-98768700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190996509	chr3:98768710-98768711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542857140	chr3:98768712-98768713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1403436	chr3:98768784-98768785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182393371	chr3:98768893-98768894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72926985	chr3:98768894-98768895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565312233	chr3:98768930-98768931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530815048	chr3:98768940-98768941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550939957	chr3:98768962-98768963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567569613	chr3:98768964-98768965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185715322	chr3:98768974-98768975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539658930	chr3:98785805-98785806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556297460	chr3:98785810-98785811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552677958	chr3:98785812-98785813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116823576	chr3:98785841-98785842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183836738	chr3:98785950-98785951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188900163	chr3:98786008-98786009	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98767800-98768800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:98768000-98768400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:98768000-98768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:98768000-98768800	Enhancers	NHDF-Ad	bronchial
5	chr3:98768000-98769000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:98785800-98790400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:98789000-98790200	Enhancers	Fetal Brain Male	brain
8	chr3:98789400-98789600	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:98789400-98790200	Enhancers	Brain Angular Gyrus	brain
10	chr3:98789400-98791000	Enhancers	Brain Substantia Nigra	brain
11	chr3:98789400-98791200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:98789800-98790200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:98789800-98790600	Enhancers	HMEC	breast
14	chr3:98789800-98790800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr3:98790400-98791200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:98790800-98791000	Enhancers	Aorta	Aorta
17	chr3:98790800-98791200	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:98802200-98804400	Enhancers	HMEC	breast
19	chr3:98802600-98803800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:98802800-98804200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:98803000-98804200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:98803000-98804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:98803000-98804400	Enhancers	Osteobl	bone
24	chr3:98803800-98804200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:98804200-98804400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:98804400-98806200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:98804400-98812800	Weak transcription	Osteobl	bone

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