Variant report

Variant	nsv1014239
Chromosome Location	chr3:34734012-34806671
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:34800787..34803715-chr3:34816923..34819918,2	MCF-7	breast:
2	chr3:34759474..34761500-chr3:34763311..34766197,2	K562	blood:
3	chr3:34736374..34738601-chr3:34740465..34742537,2	K562	blood:
4	chr3:34735289..34737874-chr3:34740568..34742537,2	K562	blood:
5	chr3:34759474..34761500-chr3:34763311..34766197,2	K562	blood:
6	chr3:34736374..34738601-chr3:34740465..34742537,2	K562	blood:
7	chr3:34735289..34737874-chr3:34740568..34742537,2	K562	blood:

Extended variants
information (count: 1008 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191277337	chr3:34734015-34734016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112684005	chr3:34734022-34734023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536703599	chr3:34734051-34734052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144739098	chr3:34734074-34734075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576369858	chr3:34734120-34734121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566714996	chr3:34734124-34734125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534170999	chr3:34734144-34734145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112968503	chr3:34734192-34734193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577154961	chr3:34734195-34734196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544596775	chr3:34734268-34734269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545200761	chr3:34734297-34734298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574355132	chr3:34734298-34734299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115934515	chr3:34734308-34734309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72859204	chr3:34734323-34734324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535147346	chr3:34734333-34734334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9864939	chr3:34734396-34734397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147304623	chr3:34734398-34734399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541561360	chr3:34737600-34737601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184305564	chr3:34737624-34737625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552205279	chr3:34737652-34737653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575038082	chr3:34737712-34737713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368055839	chr3:34737744-34737745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545369021	chr3:34737764-34737765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111477350	chr3:34737765-34737766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549457430	chr3:34737801-34737802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565650988	chr3:34737844-34737845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79290364	chr3:34737851-34737852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370365106	chr3:34737862-34737863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548926369	chr3:34737866-34737867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560571837	chr3:34737867-34737868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528126584	chr3:34737898-34737899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112760298	chr3:34737935-34737936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375199707	chr3:34737937-34737938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186762622	chr3:34737938-34737939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150361538	chr3:34737984-34737985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550578113	chr3:34738018-34738019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368478921	chr3:34738029-34738030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9844596	chr3:34738034-34738035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555771383	chr3:34738055-34738056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9844622	chr3:34738081-34738082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79327283	chr3:34738089-34738090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370862403	chr3:34738090-34738091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11285312	chr3:34738104-34738105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535082348	chr3:34738177-34738178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576522214	chr3:34742621-34742622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188918609	chr3:34742633-34742634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs143324442	chr3:34742646-34742647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529637116	chr3:34742663-34742664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553709969	chr3:34742668-34742669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148351313	chr3:34742688-34742689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34722200-34734400	Weak transcription	Thymus	Thymus
2	chr3:34737600-34738200	Enhancers	Placenta	Placenta
3	chr3:34742600-34743400	ZNF genes & repeats	Thymus	Thymus
4	chr3:34757000-34767400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:34758000-34758200	Enhancers	Pancreas	Pancrea
6	chr3:34758200-34767800	Weak transcription	Pancreas	Pancrea
7	chr3:34765000-34765200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:34765600-34766000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:34765600-34767600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:34766000-34766400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:34766000-34767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:34766600-34767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:34766600-34768000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:34767000-34767400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:34767000-34767800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr3:34767000-34768000	Enhancers	Fetal Heart	heart
17	chr3:34767200-34768000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:34767400-34768000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:34767400-34768000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:34767600-34767800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:34767800-34768000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:34767800-34768000	Enhancers	Pancreas	Pancrea
23	chr3:34768000-34772800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:34768000-34773000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:34772800-34773800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:34773000-34773400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:34773000-34773400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:34773000-34773800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:34773000-34773800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:34773000-34774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:34773200-34773600	Enhancers	Fetal Muscle Trunk	muscle
32	chr3:34773400-34773800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:34773800-34774200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:34774200-34774400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:34774400-34776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:34776000-34776200	Enhancers	Fetal Heart	heart
37	chr3:34776200-34777200	Weak transcription	Fetal Heart	heart
38	chr3:34777200-34777800	Enhancers	Fetal Heart	heart
39	chr3:34778200-34779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:34779200-34779400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:34783800-34784600	Enhancers	Fetal Muscle Leg	muscle
42	chr3:34800400-34801000	Enhancers	Fetal Muscle Leg	muscle

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