Variant report

Variant	nsv432407
Chromosome Location	chr3:34869616-34898125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:34888436..34891202-chr3:34891318..34893937,3	K562	blood:
2	chr3:34888436..34891202-chr3:34891318..34893937,3	K562	blood:

Extended variants
information (count: 819 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566001379	chr3:34873210-34873211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540027615	chr3:34873221-34873222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558116050	chr3:34873226-34873227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112786412	chr3:34873234-34873235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73824781	chr3:34873277-34873278	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543743430	chr3:34873278-34873279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556460679	chr3:34873293-34873294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576304539	chr3:34873305-34873306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555620850	chr3:34873311-34873312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557618672	chr3:34873392-34873393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370838551	chr3:34873429-34873430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78425839	chr3:34873456-34873457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559400024	chr3:34873458-34873459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190742993	chr3:34873483-34873484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181892421	chr3:34873493-34873494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563371433	chr3:34873496-34873497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2091028	chr3:34873498-34873499	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs572546489	chr3:34873505-34873506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549319615	chr3:34873522-34873523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112563815	chr3:34873523-34873524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115692041	chr3:34873537-34873538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1522970	chr3:34873590-34873591	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1949725	chr3:34873598-34873599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186962605	chr3:34873631-34873632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191750086	chr3:34873689-34873690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183210173	chr3:34873697-34873698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550634437	chr3:34873737-34873738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3045842	chr3:34873738-34873739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397760206	chr3:34873747-34873748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147595348	chr3:34873779-34873780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188090091	chr3:34873783-34873784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573947526	chr3:34873788-34873789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562237033	chr3:34873826-34873827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140292045	chr3:34873841-34873842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527876774	chr3:34873852-34873853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552731438	chr3:34873901-34873902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541623703	chr3:34873910-34873911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577549655	chr3:34873949-34873950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77296516	chr3:34873951-34873952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544803771	chr3:34873975-34873976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563367609	chr3:34873986-34873987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530740301	chr3:34873992-34873993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372107390	chr3:34873995-34873996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542804583	chr3:34874008-34874009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561171030	chr3:34874014-34874015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528442405	chr3:34874042-34874043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546864878	chr3:34874044-34874045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559525422	chr3:34874053-34874054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs662338	chr3:34874085-34874086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs147944911	chr3:34874131-34874132	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34873200-34874400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:34874200-34874600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:34874600-34875000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:34874600-34875000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:34875000-34875200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:34879800-34880000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:34880000-34880400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr3:34880000-34884800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:34881000-34881600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr3:34881000-34881600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:34881000-34881600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:34881000-34881600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:34881000-34881600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:34881200-34881600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:34881200-34881600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:34881200-34881800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:34881600-34883600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr3:34881600-34884200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:34881600-34884200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:34881600-34884600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:34881600-34884800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr3:34881600-34885000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:34881800-34884000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:34882400-34882600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:34882600-34883800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:34883600-34885600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:34883800-34887800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:34884000-34885400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:34884200-34884400	Enhancers	Fetal Intestine Large	intestine
30	chr3:34884200-34885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:34884200-34885400	Enhancers	Fetal Brain Female	brain
32	chr3:34884200-34885600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:34884200-34885600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:34884200-34886200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr3:34884200-34886400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:34884400-34884600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:34884400-34885400	Enhancers	Fetal Heart	heart
38	chr3:34884400-34885600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr3:34884400-34885600	Enhancers	NH-A	brain
40	chr3:34884400-34886800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:34884600-34885400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:34884600-34885400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:34884600-34885600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:34884600-34885600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:34884600-34886800	Enhancers	Fetal Brain Male	brain
46	chr3:34884800-34885400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr3:34884800-34885400	Enhancers	HSMMtube	muscle
48	chr3:34884800-34885600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr3:34884800-34886000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:34885000-34885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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