Variant report

Variant	nsv524781
Chromosome Location	chr3:89543677-89597679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:89552929..89555388-chr3:89562292..89564625,2	MCF-7	breast:
2	chr3:89552929..89555388-chr3:89562292..89564625,2	MCF-7	breast:
3	chr3:89586920..89589016-chr3:89591603..89593114,2	MCF-7	breast:
4	chr3:89363341..89364322-chr3:89553265..89554099,2	MCF-7	breast:
5	chr3:89523628..89525803-chr3:89552585..89555851,3	MCF-7	breast:
6	chr3:89586920..89589016-chr3:89591603..89593114,2	MCF-7	breast:
7	chr3:89163419..89163996-chr3:89576891..89577500,2	MCF-7	breast:
8	chr3:89363361..89364089-chr3:89576940..89577502,2	MCF-7	breast:

No data

Extended variants
information (count: 840 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:840 , 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	rs1036286	chr3:89543677-89543678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545515403	chr3:89543679-89543680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143522718	chr3:89543705-89543706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547991942	chr3:89543723-89543724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566301606	chr3:89543727-89543728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192628142	chr3:89543749-89543750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558270005	chr3:89543771-89543772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565309316	chr3:89552609-89552610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185356043	chr3:89552626-89552627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550933493	chr3:89552673-89552674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560887295	chr3:89552694-89552695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529937246	chr3:89552717-89552718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548274426	chr3:89552729-89552730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531398333	chr3:89552735-89552736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539251853	chr3:89552794-89552795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189730693	chr3:89552797-89552798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558267413	chr3:89552804-89552805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111657471	chr3:89552823-89552824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150920264	chr3:89552826-89552827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538924601	chr3:89552844-89552845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186043758	chr3:89552905-89552906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575402999	chr3:89552922-89552923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73146968	chr3:89552927-89552928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554774536	chr3:89552948-89552949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573231783	chr3:89553011-89553012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192115918	chr3:89553048-89553049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183968898	chr3:89553164-89553165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73146970	chr3:89553168-89553169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143835855	chr3:89553198-89553199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562786966	chr3:89553199-89553200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188510258	chr3:89553303-89553304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111883664	chr3:89553334-89553335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73146972	chr3:89553348-89553349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527388456	chr3:89553373-89553374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151029894	chr3:89553413-89553414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140919987	chr3:89553437-89553438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537468544	chr3:89553459-89553460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550826726	chr3:89553477-89553478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536551071	chr3:89553505-89553506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569189477	chr3:89553526-89553527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535378892	chr3:89553529-89553530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35471847	chr3:89553533-89553534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114212715	chr3:89553572-89553573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554739811	chr3:89553611-89553612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193037006	chr3:89553628-89553629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182742551	chr3:89553713-89553714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533995409	chr3:89553731-89553732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548150668	chr3:89553752-89553753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559011540	chr3:89553758-89553759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577131020	chr3:89553760-89553761	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	CNVD
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
Acute lymphoblastic leukemia	20435627	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89543000-89543800	Enhancers	Fetal Lung	lung
2	chr3:89552600-89553000	Enhancers	Gastric	stomach
3	chr3:89553000-89553400	Weak transcription	Gastric	stomach
4	chr3:89553400-89554000	Enhancers	Gastric	stomach
5	chr3:89553400-89556600	Enhancers	Ovary	ovary
6	chr3:89553600-89553800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:89554200-89555200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:89555200-89556000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:89555200-89556200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:89562400-89562800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:89566400-89569400	Weak transcription	Aorta	Aorta
12	chr3:89569400-89570800	Enhancers	Aorta	Aorta
13	chr3:89569400-89570800	Enhancers	Ovary	ovary
14	chr3:89570000-89570800	Enhancers	Fetal Muscle Leg	muscle
15	chr3:89570200-89570800	Enhancers	Fetal Lung	lung
16	chr3:89570200-89571600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:89570400-89571200	Enhancers	Fetal Heart	heart
18	chr3:89570600-89570800	Enhancers	Gastric	stomach
19	chr3:89570800-89574600	Weak transcription	Fetal Lung	lung
20	chr3:89571200-89572600	Weak transcription	Fetal Heart	heart
21	chr3:89572600-89572800	Enhancers	Fetal Heart	heart
22	chr3:89574200-89575400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:89574600-89574800	Enhancers	Fetal Lung	lung
24	chr3:89574600-89575000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:89574600-89575200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:89574800-89575000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr3:89574800-89575000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr3:89574800-89575000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:89574800-89575000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:89574800-89575000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:89574800-89578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:89574800-89578400	Weak transcription	Fetal Lung	lung
33	chr3:89574800-89578800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:89575000-89575600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:89575000-89575800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:89575000-89576000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:89575000-89576600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:89575200-89575600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:89575200-89576200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:89575200-89576200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:89575400-89575800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:89575600-89576200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:89575600-89577200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:89575800-89576200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:89575800-89576400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr3:89575800-89579400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:89576000-89576400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:89576000-89578800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:89576200-89576400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr3:89576200-89576400	Enhancers	Brain Germinal Matrix	brain

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