Variant report

Variant	nsv877238
Chromosome Location	chr3:103035266-103127478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 712 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:712 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568314495	chr3:103038209-103038210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559690971	chr3:103038237-103038238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535745038	chr3:103038238-103038239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150779461	chr3:103038258-103038259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373958583	chr3:103038277-103038278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570015140	chr3:103038299-103038300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187118232	chr3:103038356-103038357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558978967	chr3:103038370-103038371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376386052	chr3:103038374-103038375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529891628	chr3:103038375-103038376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72958317	chr3:103038434-103038435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7616029	chr3:103038494-103038495	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553149775	chr3:103038568-103038569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138193741	chr3:103038586-103038587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575349652	chr3:103038595-103038596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191625526	chr3:103038639-103038640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182739527	chr3:103038668-103038669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187865214	chr3:103038671-103038672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575149077	chr3:103038678-103038679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143775123	chr3:103038690-103038691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193097174	chr3:103038695-103038696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554527287	chr3:103038706-103038707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528276688	chr3:103038720-103038721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6441725	chr3:103038743-103038744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs6441726	chr3:103038747-103038748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147245389	chr3:103038795-103038796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185157685	chr3:103038833-103038834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370748564	chr3:103038867-103038868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6441727	chr3:103038884-103038885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534005612	chr3:103038910-103038911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185515731	chr3:103038917-103038918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190040557	chr3:103038985-103038986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562340140	chr3:103038992-103038993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570973172	chr3:103039009-103039010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534786491	chr3:103039016-103039017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192036979	chr3:103039017-103039018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6771998	chr3:103039018-103039019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149775345	chr3:103039045-103039046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144716286	chr3:103039066-103039067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557599054	chr3:103039067-103039068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575142099	chr3:103039091-103039092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545738713	chr3:103039136-103039137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370978591	chr3:103039146-103039147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550710072	chr3:103039208-103039209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550036903	chr3:103039213-103039214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148540916	chr3:103039230-103039231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569000592	chr3:103039271-103039272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573014838	chr3:103039296-103039297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374385006	chr3:103039316-103039317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11720248	chr3:103039335-103039336	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103038200-103039400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:103038200-103039400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:103038200-103039600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr3:103038400-103039600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:103038600-103039400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr3:103038800-103039200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:103039000-103039400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr3:103045800-103046200	Enhancers	Psoas Muscle	Psoas
9	chr3:103055200-103056000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:103056000-103056400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:103061200-103061800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:103067200-103069600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr3:103088800-103089000	Enhancers	Fetal Brain Female	brain
14	chr3:103088800-103091000	Enhancers	Fetal Brain Male	brain
15	chr3:103089000-103089800	Weak transcription	Fetal Brain Female	brain
16	chr3:103089800-103091400	Enhancers	Fetal Brain Female	brain
17	chr3:103104800-103105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:103105000-103105600	Enhancers	Fetal Brain Male	brain
19	chr3:103106400-103107400	Enhancers	Colon Smooth Muscle	Colon
20	chr3:103106800-103107600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:103106800-103107800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:103107000-103107400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:103107000-103107600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:103107000-103107600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:103107200-103107400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:103107400-103107600	Enhancers	Fetal Brain Male	brain
27	chr3:103107800-103112200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:103112200-103113200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:103112600-103113200	Enhancers	NH-A	brain
30	chr3:103121200-103122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:103121800-103122600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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