Variant report

Variant	nsv3940
Chromosome Location	chr3:109825950-109870342
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 558 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569565068	chr3:109828865-109828866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111617396	chr3:109828873-109828874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138588296	chr3:109828907-109828908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114386924	chr3:109828914-109828915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374393266	chr3:109828917-109828918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571891491	chr3:109828928-109828929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539985999	chr3:109828933-109828934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553806881	chr3:109828990-109828991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186419416	chr3:109828991-109828992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141559091	chr3:109829023-109829024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114905431	chr3:109829032-109829033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191266296	chr3:109829092-109829093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182653052	chr3:109829105-109829106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185976665	chr3:109829148-109829149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564106449	chr3:109829152-109829153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533347438	chr3:109829183-109829184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546808203	chr3:109829231-109829232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190044316	chr3:109829277-109829278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574307294	chr3:109829287-109829288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377165799	chr3:109829300-109829301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549561958	chr3:109829392-109829393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370358252	chr3:109829401-109829402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7642520	chr3:109829416-109829417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs536243822	chr3:109829417-109829418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552084830	chr3:109829420-109829421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1519008	chr3:109829569-109829570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533777822	chr3:109829618-109829619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553626086	chr3:109829625-109829626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573639358	chr3:109829707-109829708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183346056	chr3:109829784-109829785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77131933	chr3:109829806-109829807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72937058	chr3:109829932-109829933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370243096	chr3:109830026-109830027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374505091	chr3:109830030-109830031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544937178	chr3:109830048-109830049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564816888	chr3:109830149-109830150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145260734	chr3:109830159-109830160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs137876879	chr3:109830176-109830177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560395161	chr3:109830224-109830225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75493142	chr3:109830234-109830235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529343936	chr3:109830253-109830254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149537372	chr3:109830338-109830339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563106992	chr3:109830339-109830340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201062805	chr3:109830347-109830348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200894263	chr3:109830349-109830350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531917356	chr3:109830396-109830397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552148038	chr3:109830438-109830439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188030003	chr3:109830460-109830461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368823159	chr3:109830461-109830462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79245705	chr3:109830519-109830520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109828800-109829800	Enhancers	Fetal Heart	heart
2	chr3:109829800-109831200	Weak transcription	Fetal Heart	heart
3	chr3:109830400-109831800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:109830600-109831200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:109830600-109832000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:109830800-109831800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:109830800-109831800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:109830800-109831800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:109831200-109831600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:109831200-109832400	Enhancers	Fetal Heart	heart
11	chr3:109842400-109843200	Enhancers	Fetal Heart	heart
12	chr3:109843800-109844000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
13	chr3:109844000-109844200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr3:109844000-109844400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:109844000-109844600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:109844400-109848600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:109844800-109845200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:109845000-109845200	Enhancers	Spleen	Spleen
19	chr3:109848600-109849000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:109848800-109849400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:109854200-109859000	Weak transcription	Aorta	Aorta
22	chr3:109857600-109858200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:109857800-109858000	Enhancers	Fetal Muscle Leg	muscle
24	chr3:109857800-109858200	Enhancers	Fetal Stomach	stomach
25	chr3:109858000-109859000	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:109858200-109858600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:109858200-109859200	Weak transcription	Fetal Stomach	stomach
28	chr3:109858400-109859400	Enhancers	Fetal Lung	lung
29	chr3:109858600-109859200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:109859000-109859200	Enhancers	Aorta	Aorta
31	chr3:109859000-109859400	Enhancers	Fetal Muscle Leg	muscle
32	chr3:109859400-109859600	Enhancers	Fetal Stomach	stomach
33	chr3:109868800-109872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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