Variant report

Variant	nsv963561
Chromosome Location	chr3:24990649-24993786
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	chr3:24984996..24987861-chr3:24992367..24994337,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554893434	chr3:24990669-24990670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192993129	chr3:24990678-24990679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116287336	chr3:24990680-24990681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184802483	chr3:24990687-24990688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530144128	chr3:24990693-24990694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188108332	chr3:24990731-24990732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191831420	chr3:24990739-24990740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532781326	chr3:24990743-24990744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552887353	chr3:24990797-24990798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566266909	chr3:24990814-24990815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533735768	chr3:24990817-24990818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112856884	chr3:24990823-24990824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551160351	chr3:24990826-24990827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147440495	chr3:24990833-24990834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535941001	chr3:24990877-24990878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555870621	chr3:24990881-24990882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76339855	chr3:24990883-24990884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544822805	chr3:24990886-24990887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183675325	chr3:24990908-24990909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544629166	chr3:24990909-24990910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188333039	chr3:24990926-24990927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564781816	chr3:24990932-24990933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550945316	chr3:24990959-24990960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192499177	chr3:24990970-24990971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533397874	chr3:24990976-24990977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540788325	chr3:24990977-24990978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560592344	chr3:24990993-24990994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368522195	chr3:24990996-24990997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376341240	chr3:24991032-24991033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60632616	chr3:24991053-24991054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78535493	chr3:24991077-24991078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550944399	chr3:24991079-24991080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139641878	chr3:24991081-24991082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185747314	chr3:24991091-24991092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528772263	chr3:24991094-24991095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116085474	chr3:24991097-24991098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143654825	chr3:24991111-24991112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535880868	chr3:24991159-24991160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147263363	chr3:24991178-24991179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569432170	chr3:24991211-24991212	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148747020	chr3:24991214-24991215	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17195094	chr3:24991227-24991228	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115297239	chr3:24991274-24991275	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2362765	chr3:24991305-24991306	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554875363	chr3:24991334-24991335	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199782298	chr3:24991362-24991363	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76146988	chr3:24991371-24991372	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372967516	chr3:24991386-24991387	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376789714	chr3:24991395-24991396	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543853021	chr3:24991453-24991454	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24979200-24998400	Weak transcription	Right Atrium	heart
2	chr3:24987000-24996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:24991200-24991400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:24991400-24991600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr3:24992600-24993000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:24992800-24993000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:24992800-24993400	Enhancers	Brain Substantia Nigra	brain
8	chr3:24993400-24994200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:24993600-24995000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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