Variant report

Variant	nsv1003667
Chromosome Location	chr3:83041379-83203406
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
2	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
3	chr3:83118932..83120993-chr3:83127067..83129361,2	MCF-7	breast:
4	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:
5	chr3:83095575..83097816-chr3:83106145..83108018,2	MCF-7	breast:
6	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
7	chr3:83094824..83097572-chr3:83098573..83100437,2	K562	blood:
8	chr3:83141093..83143297-chr3:83147179..83148923,2	MCF-7	breast:

No data

Extended variants
information (count: 1187 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1187 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528912315	chr3:83048222-83048223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144390288	chr3:83048271-83048272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151098607	chr3:83048280-83048281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572500134	chr3:83048421-83048422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376014915	chr3:83048422-83048423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531093149	chr3:83048460-83048461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550885698	chr3:83048472-83048473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113645144	chr3:83048491-83048492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117440758	chr3:83048496-83048497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539526270	chr3:83048513-83048514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115826185	chr3:83048516-83048517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140764435	chr3:83048577-83048578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535481714	chr3:83048626-83048627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541119134	chr3:83048646-83048647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559684430	chr3:83048647-83048648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189247726	chr3:83048690-83048691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575436196	chr3:83048715-83048716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564066948	chr3:83048808-83048809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149697847	chr3:83048813-83048814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114306610	chr3:83048817-83048818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557643680	chr3:83048828-83048829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577800150	chr3:83048864-83048865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540295067	chr3:83048942-83048943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560310753	chr3:83048997-83048998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573631844	chr3:83049013-83049014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111552201	chr3:83049080-83049081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17423261	chr3:83049086-83049087	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560990785	chr3:83049095-83049096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372837198	chr3:83049143-83049144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77642713	chr3:83049188-83049189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80346083	chr3:83049189-83049190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551286513	chr3:83049222-83049223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74434759	chr3:83049236-83049237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533367214	chr3:83049257-83049258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546664008	chr3:83049326-83049327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61570730	chr3:83049336-83049337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs180965970	chr3:83049377-83049378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17488973	chr3:83049404-83049405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs370963732	chr3:83049450-83049451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10575776	chr3:83049451-83049452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397875920	chr3:83049475-83049476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201189721	chr3:83049476-83049477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185634241	chr3:83049495-83049496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190402361	chr3:83049499-83049500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145440674	chr3:83049510-83049511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571325809	chr3:83049533-83049534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533979422	chr3:83049572-83049573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553862474	chr3:83049609-83049610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74916407	chr3:83049647-83049648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373014657	chr3:83049660-83049661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83048200-83052200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:83048400-83049800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:83048400-83054800	Enhancers	Dnd41	blood
4	chr3:83049000-83050000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:83049000-83054800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:83049200-83049400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:83049400-83050000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:83049400-83052200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:83049400-83053200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:83049600-83050000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:83049800-83050000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:83049800-83052200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:83050000-83050400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:83050000-83051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:83050000-83052200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:83050000-83060800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:83050400-83050600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr3:83050400-83050600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:83050600-83052200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:83050600-83053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:83051400-83053200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:83052200-83052600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:83052200-83052600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr3:83052200-83054200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:83052200-83054600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr3:83052200-83054600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:83052600-83053200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:83052600-83054800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:83053200-83053600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:83053200-83053600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr3:83053200-83053600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr3:83053200-83053800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:83053200-83054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr3:83053600-83054200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr3:83053600-83057200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:83053800-83054200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr3:83054200-83054800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr3:83054200-83055200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:83054200-83055600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:83054200-83055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:83054400-83054800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:83054600-83055000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:83054800-83055200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:83054800-83055200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:83055000-83055600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:83055200-83056200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:83055200-83057000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr3:83055200-83058200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr3:83055600-83056600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:83055600-83056600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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