Variant report

Variant	esv3366990
Chromosome Location	chr3:88293106-88346403
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	chr3:88315596..88318595-chr3:88324045..88326072,2	K562	blood:
2	chr3:88315596..88318595-chr3:88324045..88326072,2	K562	blood:

Extended variants
information (count: 1000 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115273707	chr3:88302106-88302107	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs527652559	chr3:88302150-88302151	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs557217554	chr3:88302198-88302199	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs575549212	chr3:88302205-88302206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542827082	chr3:88302220-88302221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562191340	chr3:88302224-88302225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574154634	chr3:88302230-88302231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368040701	chr3:88302247-88302248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180727804	chr3:88302303-88302304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540904557	chr3:88302350-88302351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143516934	chr3:88302354-88302355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533682533	chr3:88302357-88302358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560560891	chr3:88302366-88302367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186003324	chr3:88302373-88302374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112354687	chr3:88302374-88302375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77150247	chr3:88302386-88302387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184050432	chr3:88302395-88302396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138945994	chr3:88302412-88302413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140676336	chr3:88302417-88302418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546575783	chr3:88302444-88302445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569383215	chr3:88302474-88302475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571198948	chr3:88302500-88302501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373604408	chr3:88302528-88302529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557326738	chr3:88302537-88302538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541095282	chr3:88305809-88305810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559237845	chr3:88305832-88305833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571140106	chr3:88305857-88305858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538465129	chr3:88305870-88305871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368587564	chr3:88305874-88305875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189300805	chr3:88305886-88305887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574597859	chr3:88305905-88305906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561332845	chr3:88305906-88305907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541953526	chr3:88305909-88305910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553573976	chr3:88305919-88305920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574845365	chr3:88305922-88305923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569495324	chr3:88305953-88305954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535212225	chr3:88305977-88305978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572039952	chr3:88305978-88305979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372533485	chr3:88305988-88305989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371107897	chr3:88305999-88306000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182288570	chr3:88306022-88306023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114690621	chr3:88306039-88306040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12493534	chr3:88306092-88306093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563208476	chr3:88306156-88306157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78625935	chr3:88306157-88306158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571997731	chr3:88306229-88306230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6551303	chr3:88306231-88306232	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs74988598	chr3:88306243-88306244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545632450	chr3:88306263-88306264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552786859	chr3:88306279-88306280	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88302000-88302200	Bivalent Enhancer	Fetal Heart	heart
2	chr3:88302200-88302600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:88305800-88308200	Enhancers	Fetal Heart	heart
4	chr3:88306800-88308800	Enhancers	Fetal Brain Male	brain
5	chr3:88308200-88308800	Flanking Active TSS	Fetal Heart	heart
6	chr3:88308800-88311800	Weak transcription	Fetal Heart	heart
7	chr3:88311800-88312600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:88311800-88312800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:88311800-88313400	Enhancers	Fetal Heart	heart
10	chr3:88312200-88312800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:88312200-88313000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:88312600-88313000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr3:88312600-88313200	Active TSS	Brain Angular Gyrus	brain
14	chr3:88312600-88313200	Active TSS	Brain Cingulate Gyrus	brain
15	chr3:88312600-88313200	Active TSS	Brain Hippocampus Middle	brain
16	chr3:88312600-88313200	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:88312600-88313200	Active TSS	Brain Substantia Nigra	brain
18	chr3:88313400-88316400	Weak transcription	Fetal Heart	heart
19	chr3:88316400-88316800	Enhancers	Brain Germinal Matrix	brain
20	chr3:88316400-88317800	Enhancers	Fetal Stomach	stomach
21	chr3:88316400-88318400	Enhancers	Fetal Heart	heart
22	chr3:88316800-88318800	Enhancers	Stomach Smooth Muscle	stomach
23	chr3:88317000-88317400	Enhancers	Fetal Lung	lung
24	chr3:88317000-88318000	Enhancers	Pancreas	Pancrea
25	chr3:88318200-88318600	Enhancers	Fetal Brain Male	brain
26	chr3:88318400-88318600	Bivalent Enhancer	Fetal Heart	heart
27	chr3:88323200-88323400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:88330600-88332200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:88332200-88332400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:88332200-88333000	Enhancers	Ovary	ovary
31	chr3:88332200-88333600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:88332400-88339800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:88333000-88334000	Weak transcription	Ovary	ovary
34	chr3:88333600-88334400	Enhancers	Small Intestine	intestine
35	chr3:88333800-88334000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:88334200-88334400	Enhancers	Ovary	ovary
37	chr3:88339800-88342000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:88340400-88341200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:88340600-88341000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr3:88341200-88342000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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