Variant report

Variant	nsv1012435
Chromosome Location	chr3:61136874-61181318
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	chr3:61167426..61169661-chr3:61171203..61172847,2	MCF-7	breast:
2	chr3:61167426..61169661-chr3:61171203..61172847,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FEZF2-9	chr3:61152646-61152715	NONHSAT090160
2	lnc-FEZF2-9	chr3:61151248-61151501	NONHSAT090160

Extended variants
information (count: 1744 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7627137	chr3:61136874-61136875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17637774	chr3:61136894-61136895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546466517	chr3:61136905-61136906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554539882	chr3:61136914-61136915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555942165	chr3:61136927-61136928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574152130	chr3:61136966-61136967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182881615	chr3:61136976-61136977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560089698	chr3:61136988-61136989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184620283	chr3:61137429-61137430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141357294	chr3:61137461-61137462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62268794	chr3:61137492-61137493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555928212	chr3:61137497-61137498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56208358	chr3:61137499-61137500	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547461410	chr3:61137531-61137532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4688295	chr3:61137550-61137551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553619022	chr3:61137552-61137553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572121237	chr3:61137567-61137568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545435305	chr3:61137652-61137653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373121638	chr3:61137657-61137658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4688297	chr3:61137712-61137713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544176069	chr3:61137764-61137765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562246313	chr3:61137766-61137767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529547851	chr3:61137799-61137800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369184759	chr3:61137886-61137887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373147285	chr3:61137900-61137901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376084341	chr3:61137901-61137902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35509555	chr3:61138007-61138008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76897108	chr3:61138031-61138032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551443696	chr3:61138059-61138060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569754609	chr3:61138069-61138070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6787511	chr3:61138150-61138151	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549691742	chr3:61138154-61138155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187650597	chr3:61138173-61138174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150812053	chr3:61138240-61138241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72879816	chr3:61138248-61138249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553936498	chr3:61138258-61138259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572005340	chr3:61138298-61138299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569522590	chr3:61138341-61138342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114203735	chr3:61138380-61138381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117769240	chr3:61138403-61138404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185570371	chr3:61138406-61138407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544114702	chr3:61138430-61138431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562337409	chr3:61138433-61138434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574410192	chr3:61138434-61138435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11392485	chr3:61138446-61138447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67678738	chr3:61138447-61138448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189176178	chr3:61138544-61138545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139894862	chr3:61138580-61138581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533256654	chr3:61138589-61138590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555263617	chr3:61138632-61138633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61136800-61137000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:61137400-61138400	Enhancers	Primary T cells from cord blood	blood
3	chr3:61138400-61143800	Weak transcription	Primary T cells from cord blood	blood
4	chr3:61138600-61138800	Enhancers	Right Atrium	heart
5	chr3:61138800-61140600	Weak transcription	Right Atrium	heart
6	chr3:61139400-61141600	Enhancers	Brain Germinal Matrix	brain
7	chr3:61139800-61140600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr3:61139800-61142200	Enhancers	Ovary	ovary
9	chr3:61140000-61140200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:61140200-61140400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:61140200-61140800	Enhancers	Fetal Kidney	kidney
12	chr3:61140200-61140800	Enhancers	Left Ventricle	heart
13	chr3:61140200-61141000	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:61140200-61141000	Enhancers	Pancreas	Pancrea
15	chr3:61140200-61141200	Enhancers	Liver	Liver
16	chr3:61140200-61141200	Enhancers	Fetal Heart	heart
17	chr3:61140400-61140600	Enhancers	Brain Hippocampus Middle	brain
18	chr3:61140400-61140800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:61140400-61140800	Enhancers	Fetal Brain Male	brain
20	chr3:61140400-61141600	Enhancers	Fetal Brain Female	brain
21	chr3:61140400-61146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:61140600-61140800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:61140600-61140800	Enhancers	Right Atrium	heart
24	chr3:61140600-61141200	Weak transcription	Brain Hippocampus Middle	brain
25	chr3:61140600-61142000	Enhancers	Fetal Lung	lung
26	chr3:61140800-61141600	Weak transcription	Right Atrium	heart
27	chr3:61140800-61142200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:61140800-61144400	Weak transcription	Fetal Kidney	kidney
29	chr3:61141000-61141400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:61141000-61141400	Weak transcription	Pancreas	Pancrea
31	chr3:61141200-61141400	Flanking Active TSS	Liver	Liver
32	chr3:61141200-61141400	Flanking Active TSS	Fetal Heart	heart
33	chr3:61141200-61141800	Enhancers	Brain Hippocampus Middle	brain
34	chr3:61141400-61141600	Enhancers	Liver	Liver
35	chr3:61141400-61141600	Enhancers	Fetal Heart	heart
36	chr3:61141400-61141800	Enhancers	Pancreas	Pancrea
37	chr3:61141400-61142000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:61141400-61142200	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:61141600-61141800	Flanking Active TSS	Fetal Heart	heart
40	chr3:61141600-61141800	Enhancers	Psoas Muscle	Psoas
41	chr3:61141600-61142000	Flanking Active TSS	Liver	Liver
42	chr3:61141600-61142000	Enhancers	Brain Angular Gyrus	brain
43	chr3:61141600-61142200	Enhancers	Right Atrium	heart
44	chr3:61141800-61142200	Enhancers	Fetal Heart	heart
45	chr3:61141800-61150800	Weak transcription	Brain Hippocampus Middle	brain
46	chr3:61141800-61152200	Weak transcription	Psoas Muscle	Psoas
47	chr3:61141800-61158400	Weak transcription	Pancreas	Pancrea
48	chr3:61142000-61142600	Enhancers	Liver	Liver
49	chr3:61142000-61143000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:61142000-61145600	Weak transcription	Fetal Lung	lung

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