Variant report

Variant	nsv3867
Chromosome Location	chr3:70480358-70525397
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	chr3:70475833..70478455-chr3:70482226..70483740,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MITF-9	chr3:70488089-70488284	NONHSAT090380
2	lnc-MITF-9	chr3:70484318-70484415	NONHSAT090380

Extended variants
information (count: 327 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:327 , 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	rs549766153	chr3:70483611-70483612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148038180	chr3:70483624-70483625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531888654	chr3:70483628-70483629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548509777	chr3:70483643-70483644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568409539	chr3:70483652-70483653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189491424	chr3:70483692-70483693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180737491	chr3:70483693-70483694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111582905	chr3:70483696-70483697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539519390	chr3:70483709-70483710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528694256	chr3:70483721-70483722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58633750	chr3:70483722-70483723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551073067	chr3:70483728-70483729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397799247	chr3:70483730-70483731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552022387	chr3:70483763-70483764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571824395	chr3:70483796-70483797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150167484	chr3:70483835-70483836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112607441	chr3:70483837-70483838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572350553	chr3:70483842-70483843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374579880	chr3:70483904-70483905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376231735	chr3:70483938-70483939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55891967	chr3:70483949-70483950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536299730	chr3:70483950-70483951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564093969	chr3:70483965-70483966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13434066	chr3:70483966-70483967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543106612	chr3:70483970-70483971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs55904862	chr3:70483988-70483989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534540321	chr3:70483997-70483998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528899493	chr3:70484010-70484011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187506561	chr3:70484018-70484019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192049990	chr3:70484025-70484026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577990527	chr3:70484030-70484031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527942649	chr3:70484050-70484051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547990760	chr3:70484110-70484111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570908918	chr3:70484118-70484119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539931639	chr3:70484138-70484139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183205600	chr3:70484151-70484152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570132348	chr3:70484158-70484159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563225687	chr3:70484175-70484176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199902681	chr3:70484195-70484196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149488809	chr3:70484201-70484202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186048775	chr3:70484214-70484215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190319669	chr3:70484270-70484271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534889639	chr3:70484297-70484298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182562210	chr3:70484307-70484308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558921319	chr3:70484308-70484309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2080640	chr3:70484317-70484318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543598079	chr3:70484328-70484329	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs148771944	chr3:70484332-70484333	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs573384378	chr3:70484333-70484334	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs142456728	chr3:70484339-70484340	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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	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
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:70483600-70484600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:70483600-70485000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr3:70484200-70485000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr3:70484200-70485000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:70489200-70489600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr3:70508200-70508400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:70519800-70520600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:70520000-70521800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:70520200-70521400	Enhancers	HSMMtube	muscle
10	chr3:70520400-70521200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:70520600-70521200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:70521200-70521600	Enhancers	Aorta	Aorta
13	chr3:70521200-70524600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:70524200-70524800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:70524200-70525000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:70524200-70525600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:70524200-70526400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:70524400-70524800	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:70524400-70525600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:70524400-70526400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:70524600-70526000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr3:70524800-70526000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:70524800-70526200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:70525000-70525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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