Variant report

Variant	nsv460739
Chromosome Location	chr3:83547435-83626697
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:81959070..81960211-chr3:83572380..83573522,4	MCF-7	breast:
2	chr3:83472452..83475298-chr3:83545575..83548143,2	MCF-7	breast:
3	chr3:83572371..83572963-chr3:83977245..83977786,2	MCF-7	breast:
4	chr3:83511456..83513865-chr3:83615176..83616890,2	K562	blood:
5	chr11:62608635..62609144-chr3:83616947..83617466,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-11	chr3:83569048-83569558	l_2402_chr3:83516296-83569558_testes

No data

Extended variants
information (count: 854 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8180101	chr3:83547435-83547436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561383213	chr3:83547436-83547437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79362047	chr3:83547456-83547457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549987025	chr3:83547478-83547479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149015150	chr3:83547507-83547508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369746903	chr3:83547511-83547512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538648753	chr3:83547522-83547523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552065742	chr3:83547533-83547534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375067955	chr3:83547653-83547654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565594630	chr3:83547668-83547669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115507883	chr3:83547673-83547674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566781637	chr3:83547694-83547695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554374389	chr3:83547711-83547712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76307656	chr3:83547725-83547726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118027094	chr3:83547750-83547751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556769774	chr3:83547857-83547858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576781080	chr3:83547882-83547883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114674580	chr3:83547945-83547946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558618767	chr3:83547959-83547960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143763642	chr3:83547961-83547962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572742763	chr3:83548015-83548016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6548882	chr3:83548049-83548050	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148151636	chr3:83548079-83548080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375606356	chr3:83548088-83548089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552186492	chr3:83548100-83548101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530221567	chr3:83548173-83548174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4856458	chr3:83548205-83548206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563582612	chr3:83548244-83548245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537598556	chr3:83548274-83548275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552116346	chr3:83548334-83548335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565717485	chr3:83548345-83548346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534637378	chr3:83548378-83548379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531651254	chr3:83548390-83548391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35765319	chr3:83548430-83548431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557125782	chr3:83548470-83548471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548072177	chr3:83548486-83548487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568293477	chr3:83548555-83548556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573858933	chr3:83548569-83548570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536800373	chr3:83548577-83548578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140757022	chr3:83548656-83548657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369949571	chr3:83548670-83548671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180818296	chr3:83548671-83548672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539461312	chr3:83548689-83548690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144679484	chr3:83548696-83548697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576392591	chr3:83548716-83548717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572860456	chr3:83548740-83548741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541784839	chr3:83548773-83548774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561419603	chr3:83548791-83548792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536859551	chr3:83548857-83548858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372197093	chr3:83548911-83548912	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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83547000-83548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:83547200-83548400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:83547200-83548400	Enhancers	Hela-S3	cervix
4	chr3:83547400-83548000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:83547400-83548400	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:83548400-83549400	Weak transcription	Hela-S3	cervix
7	chr3:83549200-83550800	Enhancers	HMEC	breast
8	chr3:83549400-83550400	Enhancers	Hela-S3	cervix
9	chr3:83549600-83550000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:83549600-83550400	Enhancers	HepG2	liver
11	chr3:83549800-83550000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:83549800-83550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:83549800-83550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:83560600-83560800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:83560800-83564200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:83561600-83563600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:83561600-83563800	Enhancers	Dnd41	blood
18	chr3:83561800-83562200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:83561800-83562600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:83561800-83563200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:83561800-83564000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:83561800-83564400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:83561800-83564600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:83561800-83565400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:83562000-83563000	Enhancers	Primary hematopoietic stem cells	blood
26	chr3:83562000-83563000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:83562000-83564400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr3:83562200-83562600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:83562200-83563000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:83562600-83562800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:83562600-83562800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr3:83562800-83563000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:83562800-83563000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:83562800-83563400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr3:83562800-83563800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:83563000-83563400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:83563000-83564000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:83563200-83563600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr3:83563400-83563600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr3:83563400-83563800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:83563400-83563800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr3:83563400-83564400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr3:83563400-83564400	Enhancers	NH-A	brain
44	chr3:83563600-83563800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:83563600-83565000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:83563600-83566800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:83563800-83564600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr3:83564000-83564400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:83564000-83564600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr3:83564200-83564400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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