Variant report

Variant	esv2757001
Chromosome Location	chr3:89260495-89271087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 399 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9310112	chr3:89260495-89260496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191775221	chr3:89260518-89260519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs60157597	chr3:89260549-89260550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571791878	chr3:89260570-89260571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539101586	chr3:89260644-89260645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556888161	chr3:89260656-89260657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140105375	chr3:89260669-89260670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149829324	chr3:89260672-89260673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9310113	chr3:89260697-89260698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs60648607	chr3:89260745-89260746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539862088	chr3:89260766-89260767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77167004	chr3:89260794-89260795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78364009	chr3:89260816-89260817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144015652	chr3:89260817-89260818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78338751	chr3:89260819-89260820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576536927	chr3:89260856-89260857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544247033	chr3:89260875-89260876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200618366	chr3:89260876-89260877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563775922	chr3:89260880-89260881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531123507	chr3:89260884-89260885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200349635	chr3:89260887-89260888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9310114	chr3:89260892-89260893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373817502	chr3:89260899-89260900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371791980	chr3:89260902-89260903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564755361	chr3:89260905-89260906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374736126	chr3:89260908-89260909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183638383	chr3:89260910-89260911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368794202	chr3:89260920-89260921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528792444	chr3:89260931-89260932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561542130	chr3:89260936-89260937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71628837	chr3:89260967-89260968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78555850	chr3:89260970-89260971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188124666	chr3:89260993-89260994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538760271	chr3:89261041-89261042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11720651	chr3:89261061-89261062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568999732	chr3:89261065-89261066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536435292	chr3:89261097-89261098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565384897	chr3:89261117-89261118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370375340	chr3:89261129-89261130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566443371	chr3:89261221-89261222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191342617	chr3:89261238-89261239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7633559	chr3:89261246-89261247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182363760	chr3:89261259-89261260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544015246	chr3:89261269-89261270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13098003	chr3:89261289-89261290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575776527	chr3:89261326-89261327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537218483	chr3:89261346-89261347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186652278	chr3:89261350-89261351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528806027	chr3:89261408-89261409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540883709	chr3:89261453-89261454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	19651600	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
Obesity	19966786	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89250200-89263200	Weak transcription	Fetal Brain Female	brain
2	chr3:89250400-89261800	Weak transcription	Fetal Brain Male	brain
3	chr3:89258200-89261600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:89259600-89262000	Weak transcription	Fetal Lung	lung
5	chr3:89259800-89263200	Weak transcription	Brain Germinal Matrix	brain
6	chr3:89259800-89266200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:89259800-89266600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:89260400-89265800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:89261400-89262600	Enhancers	Fetal Stomach	stomach
10	chr3:89261600-89262400	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:89261800-89262000	Enhancers	Fetal Brain Male	brain
12	chr3:89261800-89262400	Enhancers	Colon Smooth Muscle	Colon
13	chr3:89262000-89263600	Weak transcription	Fetal Brain Male	brain
14	chr3:89262000-89264000	Enhancers	Fetal Lung	lung
15	chr3:89262400-89265800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr3:89262600-89263000	Weak transcription	Fetal Stomach	stomach
17	chr3:89263000-89263600	Enhancers	Fetal Stomach	stomach
18	chr3:89263200-89263600	Enhancers	Brain Germinal Matrix	brain
19	chr3:89263200-89263600	Enhancers	Fetal Brain Female	brain
20	chr3:89263600-89264000	Enhancers	Fetal Brain Male	brain
21	chr3:89263600-89265600	Weak transcription	Fetal Stomach	stomach
22	chr3:89263600-89265800	Weak transcription	Fetal Brain Female	brain
23	chr3:89263600-89277000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:89264000-89264800	Weak transcription	Fetal Brain Male	brain
25	chr3:89264000-89265200	Weak transcription	Fetal Lung	lung
26	chr3:89264800-89265600	Enhancers	Fetal Brain Male	brain
27	chr3:89265000-89266600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:89265200-89266400	Enhancers	Fetal Lung	lung
29	chr3:89265400-89265800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:89265400-89266000	Enhancers	Osteobl	bone
31	chr3:89265400-89266200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:89265400-89266600	Active TSS	Right Atrium	heart
33	chr3:89265600-89266000	Weak transcription	Fetal Brain Male	brain
34	chr3:89265600-89266200	Enhancers	Fetal Stomach	stomach
35	chr3:89265600-89266400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:89265600-89266800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:89265800-89266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:89265800-89266400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:89265800-89266400	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:89265800-89266600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:89265800-89267200	Enhancers	Fetal Brain Female	brain
42	chr3:89266000-89266200	Enhancers	Fetal Brain Male	brain
43	chr3:89266000-89266200	Weak transcription	Osteobl	bone
44	chr3:89266200-89266400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr3:89266200-89266800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:89266200-89266800	Active TSS	Osteobl	bone
47	chr3:89266200-89267000	Active TSS	Fetal Muscle Leg	muscle
48	chr3:89266200-89272200	Weak transcription	Fetal Brain Male	brain
49	chr3:89266400-89266800	Flanking Active TSS	Fetal Lung	lung
50	chr3:89266400-89270200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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