Variant report

Variant	esv3461617
Chromosome Location	chr3:24289292-24290124
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	chr3:24285217..24287129-chr3:24288339..24291168,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142143491	chr3:24289298-24289299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73039636	chr3:24289332-24289333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563164213	chr3:24289395-24289396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530487263	chr3:24289412-24289413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114718460	chr3:24289423-24289424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182441561	chr3:24289448-24289449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564054394	chr3:24289487-24289488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566008410	chr3:24289499-24289500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115722082	chr3:24289504-24289505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373453188	chr3:24289544-24289545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185688705	chr3:24289607-24289608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548767936	chr3:24289611-24289612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570249777	chr3:24289615-24289616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190153994	chr3:24289631-24289632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559003421	chr3:24289642-24289643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181746414	chr3:24289643-24289644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60855424	chr3:24289645-24289646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs146174083	chr3:24289685-24289686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2885233	chr3:24289690-24289691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541736493	chr3:24289706-24289707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563277851	chr3:24289710-24289711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138638046	chr3:24289723-24289724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545720835	chr3:24289743-24289744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564168255	chr3:24289808-24289809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528178263	chr3:24289811-24289812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555925145	chr3:24289834-24289835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149362535	chr3:24289845-24289846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561684957	chr3:24289850-24289851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4632485	chr3:24289855-24289856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376076034	chr3:24289864-24289865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570412184	chr3:24289887-24289888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370501661	chr3:24289972-24289973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs931813	chr3:24289999-24290000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571871458	chr3:24290080-24290081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552502924	chr3:24290093-24290094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77421331	chr3:24290102-24290103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534826484	chr3:24290107-24290108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552914570	chr3:24290108-24290109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143643327	chr3:24290110-24290111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24268200-24291000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:24272400-24301400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:24279600-24291400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:24283600-24297000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:24284200-24300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:24284400-24295200	Weak transcription	Fetal Stomach	stomach
7	chr3:24284600-24295200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:24284600-24300400	Weak transcription	Pancreas	Pancrea
9	chr3:24285000-24296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:24285200-24299600	Weak transcription	Left Ventricle	heart
11	chr3:24285400-24294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:24285600-24291000	Weak transcription	Fetal Intestine Small	intestine
13	chr3:24286800-24294800	Weak transcription	Aorta	Aorta
14	chr3:24286800-24299200	Weak transcription	Adipose Nuclei	Adipose
15	chr3:24287000-24290000	Weak transcription	Psoas Muscle	Psoas
16	chr3:24290000-24290200	Enhancers	Psoas Muscle	Psoas

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