Variant report

Variant	esv3507810
Chromosome Location	chr3:70058712-70066010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:70048808..70051544-chr3:70059297..70061000,2	K562	blood:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MITF-1	chr3:70062671-70062823	ENSG00000240405
2	lnc-MITF-1	chr3:70062945-70064469	ENSG00000240405
3	lnc-MITF-1	chr3:70062852-70064165	NONHSAT090374
4	lnc-MITF-1	chr3:70061568-70061749	NONHSAT090374
5	lnc-MITF-1	chr3:70061508-70061749	ENSG00000240405
6	lnc-MITF-1	chr3:70062671-70062823	NR_110000
7	lnc-MITF-1	chr3:70062945-70064451	NR_110000
8	lnc-MITF-1	chr3:70062671-70062823	NONHSAT090374
9	lnc-MITF-1	chr3:70062671-70062823	ENSG00000240405
10	lnc-MITF-1	chr3:70062671-70062823	XLOC_002696
11	lnc-MITF-1	chr3:70062945-70063018	ENSG00000240405
12	lnc-MITF-1	chr3:70061508-70061749	ENSG00000240405
13	lnc-MITF-1	chr3:70062945-70064449	XLOC_002696
14	lnc-MITF-1	chr3:70061508-70061749	NR_110000
15	lnc-MITF-1	chr3:70061508-70061749	XLOC_002696

No data

Variant related genes	Relation type
ENSG00000240405	chromatin interactions
PLCXD2	miRNA target sites
IFIT5	miRNA target sites
PLSCR4	miRNA target sites
BAMBI	miRNA target sites
TNRC6A	miRNA target sites

Extended variants
information (count: 330 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:330 , 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	rs558664354	chr3:70058765-70058766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566776471	chr3:70058768-70058769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373636395	chr3:70058804-70058805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367659152	chr3:70058839-70058840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569249230	chr3:70058891-70058892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28863205	chr3:70058914-70058915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554852898	chr3:70058926-70058927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574644722	chr3:70059100-70059101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540420535	chr3:70059106-70059107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4269086	chr3:70059108-70059109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576993176	chr3:70059219-70059220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545920546	chr3:70059222-70059223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9713522	chr3:70059231-70059232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4443177	chr3:70059236-70059237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6775820	chr3:70059383-70059384	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529192627	chr3:70059384-70059385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371119948	chr3:70059386-70059387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561614843	chr3:70059404-70059405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530369510	chr3:70059431-70059432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112921103	chr3:70059441-70059442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6788592	chr3:70059448-70059449	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532435173	chr3:70059473-70059474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs552660657	chr3:70059482-70059483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6799782	chr3:70059493-70059494	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs549344429	chr3:70059518-70059519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374582509	chr3:70059525-70059526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554706551	chr3:70059567-70059568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568361079	chr3:70059677-70059678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534112225	chr3:70059704-70059705	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs541082545	chr3:70059730-70059731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs553995717	chr3:70059749-70059750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115558792	chr3:70059754-70059755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368656571	chr3:70059764-70059765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559183831	chr3:70059788-70059789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs144527199	chr3:70059793-70059794	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs186651665	chr3:70059811-70059812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369533094	chr3:70059824-70059825	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112587293	chr3:70059847-70059848	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374037487	chr3:70059848-70059849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574287822	chr3:70059904-70059905	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9817276	chr3:70059909-70059910	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530314166	chr3:70059910-70059911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375526450	chr3:70059915-70059916	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540540262	chr3:70059917-70059918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560285235	chr3:70059919-70059920	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532569274	chr3:70059966-70059967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75081999	chr3:70059982-70059983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145436105	chr3:70059992-70059993	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534635897	chr3:70059995-70059996	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531759590	chr3:70060023-70060024	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	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
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70041200-70061000	Weak transcription	Aorta	Aorta
2	chr3:70055600-70059800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:70055800-70059600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:70055800-70059800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:70055800-70061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:70059600-70060000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:70059600-70061400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:70059800-70060200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:70059800-70060200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:70060400-70061200	Enhancers	Colon Smooth Muscle	Colon
11	chr3:70060400-70061600	Enhancers	Fetal Stomach	stomach
12	chr3:70060800-70061600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:70061000-70061400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:70061000-70061400	Enhancers	Aorta	Aorta
15	chr3:70061000-70061400	Enhancers	Pancreas	Pancrea
16	chr3:70061000-70061800	Enhancers	Rectal Smooth Muscle	rectum
17	chr3:70061400-70061800	Active TSS	Aorta	Aorta
18	chr3:70061600-70063200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:70061800-70062600	Weak transcription	Aorta	Aorta
20	chr3:70062000-70063200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:70062600-70063800	Enhancers	Aorta	Aorta
22	chr3:70063200-70065800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:70063800-70098000	Weak transcription	Aorta	Aorta
24	chr3:70065000-70065400	Enhancers	Dnd41	blood

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