Variant report

Variant	nsv437325
Chromosome Location	chr3:24778690-24790835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 329 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6766822	chr3:24778690-24778691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567796970	chr3:24778700-24778701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536700071	chr3:24778704-24778705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114914488	chr3:24778705-24778706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148197573	chr3:24778719-24778720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116478059	chr3:24778724-24778725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372488128	chr3:24778761-24778762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115813820	chr3:24778795-24778796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187973928	chr3:24778836-24778837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78286201	chr3:24778859-24778860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577406151	chr3:24778862-24778863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535213330	chr3:24778910-24778911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539442946	chr3:24778918-24778919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192395203	chr3:24778919-24778920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78375184	chr3:24778977-24778978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4321478	chr3:24779041-24779042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141135414	chr3:24779066-24779067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73820053	chr3:24779132-24779133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73820054	chr3:24779134-24779135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150330636	chr3:24779178-24779179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528320577	chr3:24779245-24779246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540061768	chr3:24779269-24779270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370853467	chr3:24779277-24779278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137974093	chr3:24779281-24779282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550212949	chr3:24779304-24779305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568879365	chr3:24779358-24779359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532779959	chr3:24779368-24779369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185541541	chr3:24779369-24779370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187930013	chr3:24779377-24779378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556044944	chr3:24779419-24779420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571035613	chr3:24779503-24779504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535307181	chr3:24779508-24779509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs386659412	chr3:24779532-24779533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116226874	chr3:24779533-24779534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536003023	chr3:24779544-24779545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537468316	chr3:24779580-24779581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191964635	chr3:24779587-24779588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76328544	chr3:24779609-24779610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111421045	chr3:24779624-24779625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113081171	chr3:24779625-24779626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113954081	chr3:24779626-24779627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557071968	chr3:24779634-24779635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6772760	chr3:24779648-24779649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs149520378	chr3:24779656-24779657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570964650	chr3:24779677-24779678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145998920	chr3:24779690-24779691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561546361	chr3:24779715-24779716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80157759	chr3:24779742-24779743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139892558	chr3:24779777-24779778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141858390	chr3:24779783-24779784	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24776200-24782600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:24777800-24779600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:24778000-24781600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:24779600-24779800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:24779600-24780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:24779800-24785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:24780200-24781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:24781400-24782200	Enhancers	Fetal Muscle Leg	muscle
9	chr3:24781600-24782400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:24781600-24783200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:24781600-24783400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:24781800-24782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:24781800-24783000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:24782000-24782800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:24782000-24783200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:24782200-24783000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:24782200-24783200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:24782600-24783800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:24783400-24785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:24785200-24785400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:24787400-24787600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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