Variant report

Variant	esv2527637
Chromosome Location	chr3:24090223-24091668
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	chr3:24086798..24089297-chr3:24089834..24092711,2	K562	blood:
2	chr3:24082962..24085298-chr3:24090200..24092155,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143221123	chr3:24090238-24090239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17014086	chr3:24090343-24090344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs151280738	chr3:24090346-24090347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563786513	chr3:24090348-24090349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578159881	chr3:24090388-24090389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570985385	chr3:24090409-24090410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377566904	chr3:24090430-24090431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546534835	chr3:24090501-24090502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77345508	chr3:24090548-24090549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34007654	chr3:24090555-24090556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369615612	chr3:24090568-24090569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188331124	chr3:24090600-24090601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528953056	chr3:24090741-24090742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548815239	chr3:24090754-24090755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13081986	chr3:24090792-24090793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13081989	chr3:24090795-24090796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200888703	chr3:24090799-24090800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201846320	chr3:24090800-24090801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199642450	chr3:24090801-24090802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200639919	chr3:24090803-24090804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201511346	chr3:24090804-24090805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200101377	chr3:24090805-24090806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200478005	chr3:24090807-24090808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540577461	chr3:24090825-24090826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570245276	chr3:24090833-24090834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560702266	chr3:24090946-24090947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182213885	chr3:24090977-24090978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570962444	chr3:24091004-24091005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185651688	chr3:24091025-24091026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534713804	chr3:24091028-24091029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553304774	chr3:24091039-24091040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78046038	chr3:24091101-24091102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114448961	chr3:24091173-24091174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556766179	chr3:24091206-24091207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562625243	chr3:24091215-24091216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575093936	chr3:24091239-24091240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190115330	chr3:24091246-24091247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115708562	chr3:24091298-24091299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528339445	chr3:24091414-24091415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11927256	chr3:24091463-24091464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs114697102	chr3:24091498-24091499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36001202	chr3:24091504-24091505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17014087	chr3:24091542-24091543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs550670978	chr3:24091558-24091559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72628130	chr3:24091571-24091572	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531140493	chr3:24091573-24091574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552760439	chr3:24091580-24091581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72628131	chr3:24091632-24091633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535293669	chr3:24091648-24091649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138117239	chr3:24091655-24091656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
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
lymphocytic leukemia	21291569	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
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24079600-24090400	Weak transcription	Lung	lung
2	chr3:24088200-24091400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:24088400-24091800	Enhancers	NHDF-Ad	bronchial
4	chr3:24088600-24090600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:24088600-24090600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:24088600-24090800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:24088800-24090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:24088800-24090600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:24088800-24090600	Enhancers	Colon Smooth Muscle	Colon
10	chr3:24088800-24090600	Enhancers	Hela-S3	cervix
11	chr3:24088800-24090600	Enhancers	NHEK	skin
12	chr3:24088800-24090600	Enhancers	Osteobl	bone
13	chr3:24088800-24090800	Enhancers	Adipose Nuclei	Adipose
14	chr3:24088800-24090800	Enhancers	Placenta	Placenta
15	chr3:24088800-24090800	Enhancers	Ovary	ovary
16	chr3:24088800-24090800	Enhancers	HMEC	breast
17	chr3:24088800-24090800	Enhancers	NHLF	lung
18	chr3:24088800-24091400	Enhancers	HSMMtube	muscle
19	chr3:24089000-24090600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:24089000-24090600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr3:24089000-24090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:24089000-24090600	Enhancers	Aorta	Aorta
23	chr3:24089200-24090400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr3:24089200-24090600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:24089200-24090600	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:24089400-24090600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:24089800-24091600	Weak transcription	Psoas Muscle	Psoas
28	chr3:24089800-24092800	Weak transcription	A549	lung
29	chr3:24090000-24090600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:24090400-24090600	Enhancers	Lung	lung
31	chr3:24090800-24093600	Weak transcription	Ovary	ovary
32	chr3:24090800-24101400	Weak transcription	NHLF	lung
33	chr3:24091600-24091800	Enhancers	Psoas Muscle	Psoas

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