Variant report

Variant	nsv525435
Chromosome Location	chr3:34698297-34718800
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	chr3:34703981..34706213-chr3:35633077..35634982,2	K562	blood:

Extended variants
information (count: 442 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184572617	chr3:34709808-34709809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532257454	chr3:34709809-34709810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550433843	chr3:34709841-34709842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562446127	chr3:34709846-34709847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530772138	chr3:34709849-34709850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189891002	chr3:34709855-34709856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567654509	chr3:34709902-34709903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535149452	chr3:34709906-34709907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7623020	chr3:34709946-34709947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180746813	chr3:34709957-34709958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186179043	chr3:34709958-34709959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188399347	chr3:34709986-34709987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575900203	chr3:34709994-34709995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535858286	chr3:34709997-34709998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554595594	chr3:34710041-34710042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137859021	chr3:34710042-34710043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539972211	chr3:34710065-34710066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114444407	chr3:34710073-34710074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111403592	chr3:34710078-34710079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374595220	chr3:34710089-34710090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370157075	chr3:34710092-34710093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141950834	chr3:34710101-34710102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9855532	chr3:34710139-34710140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs181882928	chr3:34710175-34710176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150100258	chr3:34710200-34710201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186566169	chr3:34710225-34710226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138931861	chr3:34710246-34710247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547085364	chr3:34710272-34710273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571769732	chr3:34710278-34710279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532709020	chr3:34710305-34710306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563208533	chr3:34710314-34710315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190625137	chr3:34710317-34710318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566722666	chr3:34710324-34710325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7625714	chr3:34710356-34710357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536980614	chr3:34710359-34710360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149439796	chr3:34710364-34710365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183711688	chr3:34710401-34710402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12636214	chr3:34710413-34710414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565834031	chr3:34710441-34710442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534821854	chr3:34710492-34710493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186211905	chr3:34710494-34710495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530574369	chr3:34710501-34710502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144766854	chr3:34710503-34710504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543998506	chr3:34710530-34710531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138433027	chr3:34710533-34710534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191503400	chr3:34710537-34710538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542074496	chr3:34710552-34710553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558316829	chr3:34710580-34710581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11716329	chr3:34710610-34710611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7625770	chr3:34710619-34710620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34709800-34711400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:34710400-34710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:34710400-34711400	Enhancers	K562	blood
4	chr3:34710600-34711600	Enhancers	Placenta	Placenta
5	chr3:34711400-34718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:34716600-34717000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:34716800-34717000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:34717000-34717800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:34717000-34718000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:34717200-34717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:34717400-34717600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:34717400-34718600	Enhancers	NH-A	brain
13	chr3:34717600-34718000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:34717600-34718400	Enhancers	Fetal Heart	heart
15	chr3:34717800-34718200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:34717800-34718200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:34717800-34721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:34718000-34718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:34718000-34718400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:34718000-34718400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:34718000-34718400	Enhancers	A549	lung
22	chr3:34718000-34718600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:34718200-34721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:34718400-34720200	Weak transcription	Fetal Heart	heart
25	chr3:34718400-34721600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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