Variant report

Variant	nsv528597
Chromosome Location	chr3:59961514-59963131
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr3:59962769-59962954	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NPCDR1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17253376	chr3:59961514-59961515	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs212034	chr3:59961536-59961537	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141352789	chr3:59961541-59961542	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187151045	chr3:59961562-59961563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191533097	chr3:59961576-59961577	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386661437	chr3:59961595-59961596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114772335	chr3:59961597-59961598	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533064732	chr3:59961604-59961605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551501510	chr3:59961630-59961631	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562430607	chr3:59961633-59961634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13097687	chr3:59961639-59961640	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150790676	chr3:59961655-59961656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370011776	chr3:59961658-59961659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138043784	chr3:59961681-59961682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186919536	chr3:59961705-59961706	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189794351	chr3:59961718-59961719	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142544298	chr3:59961755-59961756	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531235690	chr3:59961773-59961774	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182090099	chr3:59961816-59961817	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187792098	chr3:59961887-59961888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193207316	chr3:59961897-59961898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550986153	chr3:59961905-59961906	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570877659	chr3:59961916-59961917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78361049	chr3:59961931-59961932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185544416	chr3:59961975-59961976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77236608	chr3:59961996-59961997	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565574846	chr3:59962028-59962029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577408194	chr3:59962049-59962050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577761513	chr3:59962127-59962128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188823240	chr3:59962140-59962141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563427080	chr3:59962153-59962154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530496292	chr3:59962208-59962209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548587878	chr3:59962239-59962240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374399203	chr3:59962250-59962251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543558691	chr3:59962288-59962289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192874719	chr3:59962319-59962320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3772480	chr3:59962330-59962331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546535220	chr3:59962338-59962339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529044937	chr3:59962381-59962382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377636924	chr3:59962393-59962394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76833889	chr3:59962457-59962458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76610639	chr3:59962478-59962479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184281371	chr3:59962541-59962542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71313735	chr3:59962542-59962543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569355104	chr3:59962560-59962561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145977422	chr3:59962575-59962576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555005837	chr3:59962587-59962588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573322421	chr3:59962607-59962608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534176265	chr3:59962646-59962647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559572428	chr3:59962655-59962656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	18162546	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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59943200-59964400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr3:59952000-59961600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr3:59952000-59964400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr3:59956200-59964200	Weak transcription	Fetal Thymus	thymus
5	chr3:59957600-59962000	Strong transcription	Dnd41	blood
6	chr3:59959200-59961800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:59959800-59961800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:59960800-59963000	Weak transcription	Primary T cells from cord blood	blood
9	chr3:59961400-59962000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:59961600-59969000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:59961800-59962200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:59961800-59962800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:59962000-59963000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:59962000-59964600	Weak transcription	Dnd41	blood
15	chr3:59962200-59963200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:59962800-59964600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:59963000-59963600	Enhancers	Primary T cells from cord blood	blood
18	chr3:59963000-59969400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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