Variant report

Variant	nsv967177
Chromosome Location	chr3:23337450-23350050
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	chr3:23333702..23336217-chr3:23346722..23349222,2	MCF-7	breast:

Extended variants
information (count: 617 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567911503	chr3:23337454-23337455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186632505	chr3:23337460-23337461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556402139	chr3:23337469-23337470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577821692	chr3:23337516-23337517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370186178	chr3:23337525-23337526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35024744	chr3:23337538-23337539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557715337	chr3:23337557-23337558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6792462	chr3:23337633-23337634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs558967746	chr3:23337658-23337659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572089423	chr3:23337676-23337677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191245074	chr3:23337681-23337682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149344419	chr3:23337727-23337728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79326630	chr3:23337774-23337775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572516514	chr3:23337797-23337798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78692406	chr3:23337805-23337806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543748894	chr3:23337821-23337822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565128651	chr3:23337843-23337844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144756926	chr3:23337850-23337851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547579511	chr3:23337913-23337914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9811442	chr3:23337922-23337923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527783512	chr3:23337960-23337961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549151214	chr3:23337961-23337962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141949461	chr3:23338011-23338012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369678783	chr3:23338023-23338024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147285884	chr3:23338043-23338044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550084468	chr3:23338045-23338046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571576566	chr3:23338046-23338047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141040862	chr3:23338068-23338069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553922603	chr3:23338069-23338070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565681915	chr3:23338086-23338087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9815359	chr3:23338088-23338089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554324758	chr3:23338107-23338108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183158539	chr3:23338121-23338122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188487408	chr3:23338130-23338131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558906360	chr3:23338177-23338178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373137945	chr3:23338195-23338196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577193467	chr3:23338217-23338218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147531682	chr3:23338219-23338220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559489894	chr3:23338249-23338250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75248624	chr3:23338252-23338253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543112410	chr3:23338261-23338262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373957748	chr3:23338274-23338275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193073260	chr3:23338277-23338278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184833446	chr3:23338323-23338324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187743064	chr3:23338326-23338327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192302509	chr3:23338378-23338379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149666596	chr3:23338388-23338389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547712996	chr3:23338389-23338390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183657045	chr3:23338390-23338391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536397740	chr3:23338391-23338392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23336600-23337600	Enhancers	Primary B cells from cord blood	blood
2	chr3:23336600-23337600	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:23337000-23337600	Enhancers	GM12878-XiMat	blood
4	chr3:23337400-23343000	Weak transcription	Psoas Muscle	Psoas
5	chr3:23337600-23358400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr3:23342800-23343000	Enhancers	Brain Hippocampus Middle	brain
7	chr3:23343000-23343200	Enhancers	Psoas Muscle	Psoas
8	chr3:23343000-23343400	Enhancers	Ovary	ovary
9	chr3:23343000-23347200	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:23343200-23343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:23343200-23350200	Weak transcription	Psoas Muscle	Psoas
12	chr3:23343400-23344200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:23343400-23344400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:23343400-23344400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:23343400-23344600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:23343400-23346600	Weak transcription	Ovary	ovary
17	chr3:23343600-23343800	Enhancers	Aorta	Aorta
18	chr3:23343600-23344400	Enhancers	Osteobl	bone
19	chr3:23343600-23344600	Enhancers	Adipose Nuclei	Adipose
20	chr3:23343600-23344800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:23343600-23344800	Enhancers	HSMM	muscle
22	chr3:23343600-23347800	Enhancers	HSMMtube	muscle
23	chr3:23343800-23344000	Enhancers	Colon Smooth Muscle	Colon
24	chr3:23343800-23344200	Enhancers	Rectal Smooth Muscle	rectum
25	chr3:23343800-23355200	Weak transcription	Aorta	Aorta
26	chr3:23344000-23344200	Enhancers	A549	lung
27	chr3:23344000-23345200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:23344200-23344400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr3:23344200-23344600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:23344200-23345200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:23344200-23345200	Weak transcription	A549	lung
32	chr3:23344200-23345600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:23344400-23344600	Enhancers	Left Ventricle	heart
34	chr3:23344400-23344600	Enhancers	Right Ventricle	heart
35	chr3:23344400-23345000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:23344400-23345600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:23344400-23346800	Enhancers	Fetal Lung	lung
38	chr3:23344600-23345600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:23344600-23346200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:23344600-23346400	Weak transcription	Adipose Nuclei	Adipose
41	chr3:23344600-23353400	Weak transcription	Left Ventricle	heart
42	chr3:23344600-23356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:23344800-23345200	Weak transcription	HSMM	muscle
44	chr3:23344800-23345400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:23345000-23345800	Enhancers	Fetal Kidney	kidney
46	chr3:23345000-23350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:23345200-23345400	Enhancers	Right Ventricle	heart
48	chr3:23345200-23345800	Enhancers	Colon Smooth Muscle	Colon
49	chr3:23345200-23345800	Enhancers	Fetal Stomach	stomach
50	chr3:23345200-23345800	Enhancers	A549	lung

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