Variant report

Variant	esv1828578
Chromosome Location	chr3:68595321-68641509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 324 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578095698	chr3:68599051-68599052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145986418	chr3:68599089-68599090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530162418	chr3:68599090-68599091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148754096	chr3:68599119-68599120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367809170	chr3:68599124-68599125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543217506	chr3:68599177-68599178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559153326	chr3:68599178-68599179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528150565	chr3:68599213-68599214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180678907	chr3:68599214-68599215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73101396	chr3:68599215-68599216	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530467702	chr3:68599220-68599221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371202162	chr3:68599230-68599231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73101398	chr3:68599259-68599260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567559119	chr3:68599320-68599321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185987534	chr3:68599363-68599364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546793681	chr3:68599391-68599392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111525922	chr3:68599432-68599433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566701593	chr3:68599441-68599442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1533154	chr3:68599501-68599502	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558325719	chr3:68599527-68599528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578068076	chr3:68599532-68599533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368692580	chr3:68599554-68599555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552126997	chr3:68599556-68599557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557331942	chr3:68599567-68599568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77355470	chr3:68599568-68599569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192251237	chr3:68599576-68599577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184084311	chr3:68599651-68599652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185771569	chr3:68599659-68599660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550659624	chr3:68599672-68599673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370340726	chr3:68599730-68599731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547803892	chr3:68599751-68599752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544698575	chr3:68599772-68599773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76634053	chr3:68599791-68599792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530383869	chr3:68599826-68599827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550564708	chr3:68599832-68599833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560996758	chr3:68599842-68599843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529978639	chr3:68599869-68599870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540899086	chr3:68599908-68599909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570722940	chr3:68599928-68599929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4550825	chr3:68599933-68599934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13319937	chr3:68599941-68599942	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73103304	chr3:68600022-68600023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551853397	chr3:68600043-68600044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142338717	chr3:68600123-68600124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190622278	chr3:68600126-68600127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182931946	chr3:68600127-68600128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567584051	chr3:68600153-68600154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536939903	chr3:68600156-68600157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556392074	chr3:68600158-68600159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186895492	chr3:68600179-68600180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:68599000-68599600	Enhancers	H9 Cell Line	embryonic stem cell
2	chr3:68599400-68599600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:68599600-68601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:68602200-68602800	Enhancers	Colon Smooth Muscle	Colon
5	chr3:68605000-68605800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:68610000-68612000	Enhancers	Fetal Lung	lung
7	chr3:68620000-68620600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:68620600-68620800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:68620800-68622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:68622400-68622600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:68624400-68625000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:68624600-68625200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:68628200-68628400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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