Variant report

Variant	nsv965175
Chromosome Location	chr3:75295454-75322021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:75308414..75309217-chr3:75343438..75343942,2	MCF-7	breast:
2	chr3:75299981..75301854-chr3:75306203..75307918,2	MCF-7	breast:
3	chr3:75299981..75301854-chr3:75306203..75307918,2	MCF-7	breast:

Extended variants
information (count: 856 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565703533	chr3:75295464-75295465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535860187	chr3:75295495-75295496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35145105	chr3:75295532-75295533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554948806	chr3:75295559-75295560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193005403	chr3:75295576-75295577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543649621	chr3:75295587-75295588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373240929	chr3:75295588-75295589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558748600	chr3:75295707-75295708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578051820	chr3:75295728-75295729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377331276	chr3:75295730-75295731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545514155	chr3:75295753-75295754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184573350	chr3:75295842-75295843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55772440	chr3:75295925-75295926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542610709	chr3:75295927-75295928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561250194	chr3:75296000-75296001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531844793	chr3:75296039-75296040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549978379	chr3:75296054-75296055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143621534	chr3:75296075-75296076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189038557	chr3:75296102-75296103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547509757	chr3:75296112-75296113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146794265	chr3:75296162-75296163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200764238	chr3:75296167-75296168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139954455	chr3:75296179-75296180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28449831	chr3:75296223-75296224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376769847	chr3:75296262-75296263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180832333	chr3:75296266-75296267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77090010	chr3:75296272-75296273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146402286	chr3:75296279-75296280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537311327	chr3:75296322-75296323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558873314	chr3:75296329-75296330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185810670	chr3:75296338-75296339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188676690	chr3:75296339-75296340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554290825	chr3:75296341-75296342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143496061	chr3:75296404-75296405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181735725	chr3:75296405-75296406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560912960	chr3:75296432-75296433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569562241	chr3:75296486-75296487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535426554	chr3:75296575-75296576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35404793	chr3:75296617-75296618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557221326	chr3:75296669-75296670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115023895	chr3:75296680-75296681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151183344	chr3:75296710-75296711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79664709	chr3:75296763-75296764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111347282	chr3:75296785-75296786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554809470	chr3:75296793-75296794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532786920	chr3:75296825-75296826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62261034	chr3:75296891-75296892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558643081	chr3:75296928-75296929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368678681	chr3:75296965-75296966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540423261	chr3:75297024-75297025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75292000-75297200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:75292200-75297600	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr3:75293400-75297400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:75295000-75295800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:75295400-75298200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:75297200-75299000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:75297400-75299000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:75297400-75299400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr3:75297600-75298000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr3:75297600-75298200	Enhancers	Primary hematopoietic stem cells	blood
11	chr3:75297600-75299000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:75297600-75299200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:75298000-75298400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:75298000-75298600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:75298200-75299000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:75298200-75299400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:75298400-75299000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:75298400-75299200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr3:75298400-75299400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:75298800-75299000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:75299000-75303200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:75299000-75303200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:75299200-75303600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:75299400-75303400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:75303000-75303600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:75303200-75304800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr3:75303200-75305000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:75303200-75305400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:75303400-75305400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:75303600-75304000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:75303600-75305200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:75303600-75305400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:75304000-75304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:75304000-75304600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:75304000-75304600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:75304200-75304400	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:75304200-75304600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:75304400-75305200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:75304400-75305400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:75304400-75305400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:75304600-75309200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:75305000-75305200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:75305400-75305600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:75308400-75308600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr3:75308800-75309400	Enhancers	Fetal Brain Male	brain
46	chr3:75308800-75309600	Enhancers	HepG2	liver
47	chr3:75308800-75309800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:75309000-75309200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:75309000-75309400	Active TSS	Gastric	stomach
50	chr3:75309200-75309400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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