Variant report

Variant	nsv998548
Chromosome Location	chr3:60491103-60503466
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:60483853..60486464-chr3:60489187..60492049,2	K562	blood:
2	chr3:60502053..60505036-chr3:60509426..60512103,2	K562	blood:
3	chr3:60486499..60489215-chr3:60499142..60502130,2	K562	blood:
4	chr3:60500352..60502884-chr3:60536251..60537952,2	K562	blood:
5	chr3:60492215..60494697-chr3:60503496..60505338,2	K562	blood:
6	chr3:60488135..60490633-chr3:60491194..60494068,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138866701	chr3:60499610-60499611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372737911	chr3:60499611-60499612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs28472615	chr3:60499618-60499619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs568287314	chr3:60499637-60499638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535384177	chr3:60499638-60499639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11706898	chr3:60499640-60499641	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149320576	chr3:60499647-60499648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539405363	chr3:60499673-60499674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144641715	chr3:60499676-60499677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113527664	chr3:60499682-60499683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576033078	chr3:60499699-60499700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537183135	chr3:60499710-60499711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555670683	chr3:60499720-60499721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574220636	chr3:60499721-60499722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148501208	chr3:60499737-60499738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563148399	chr3:60499758-60499759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559575917	chr3:60499763-60499764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372531717	chr3:60499853-60499854	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577943266	chr3:60499874-60499875	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370035345	chr3:60499880-60499881	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs741751	chr3:60499964-60499965	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs192467296	chr3:60499978-60499979	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548630065	chr3:60499987-60499988	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185449575	chr3:60499992-60499993	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549503400	chr3:60500020-60500021	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376383888	chr3:60500021-60500022	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56767053	chr3:60500041-60500042	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371155147	chr3:60500042-60500043	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142815239	chr3:60500044-60500045	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs242229	chr3:60500057-60500058	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113948633	chr3:60500059-60500060	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2077587	chr3:60500082-60500083	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs547628516	chr3:60500115-60500116	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1318329	chr3:60500117-60500118	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs909111	chr3:60500125-60500126	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13319467	chr3:60500148-60500149	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs539772182	chr3:60500149-60500150	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372447319	chr3:60500199-60500200	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551379650	chr3:60500216-60500217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552347265	chr3:60500235-60500236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146079905	chr3:60500259-60500260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12630462	chr3:60500262-60500263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs741752	chr3:60500273-60500274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189972113	chr3:60500276-60500277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573660896	chr3:60500292-60500293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534852355	chr3:60500293-60500294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181372719	chr3:60500299-60500300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577903959	chr3:60500315-60500316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545336941	chr3:60500319-60500320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563531269	chr3:60500326-60500327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60499600-60500200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr3:60499800-60500200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr3:60499800-60501000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:60500000-60501000	Enhancers	Fetal Muscle Trunk	muscle
5	chr3:60500200-60500600	Weak transcription	Adipose Nuclei	Adipose
6	chr3:60500600-60500800	Enhancers	Adipose Nuclei	Adipose
7	chr3:60500600-60500800	Enhancers	Right Atrium	heart
8	chr3:60500600-60501000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:60500600-60501000	Enhancers	Right Ventricle	heart
10	chr3:60500600-60501200	Enhancers	Fetal Heart	heart
11	chr3:60500600-60501200	Enhancers	K562	blood
12	chr3:60500800-60501200	Enhancers	Fetal Kidney	kidney
13	chr3:60500800-60501200	Enhancers	Left Ventricle	heart
14	chr3:60500800-60501600	Weak transcription	Right Atrium	heart

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