Variant report

Variant	esv10824
Chromosome Location	chr3:22279439-22286398
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	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
2	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181786385	chr3:22279488-22279489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143850935	chr3:22279490-22279491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78884155	chr3:22279537-22279538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141185190	chr3:22279548-22279549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532684584	chr3:22279562-22279563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566748071	chr3:22279564-22279565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552628042	chr3:22279567-22279568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557736183	chr3:22279568-22279569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573128052	chr3:22279573-22279574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558100567	chr3:22279575-22279576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201978694	chr3:22279595-22279596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534677856	chr3:22279622-22279623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552998464	chr3:22279636-22279637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146223828	chr3:22279660-22279661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9877955	chr3:22279685-22279686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2728999	chr3:22279687-22279688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs575715009	chr3:22279700-22279701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79549191	chr3:22279705-22279706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2729000	chr3:22279788-22279789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201155968	chr3:22279789-22279790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528826276	chr3:22279794-22279795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546607559	chr3:22279803-22279804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117812240	chr3:22279854-22279855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528895918	chr3:22279858-22279859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187399900	chr3:22279894-22279895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190435456	chr3:22279897-22279898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551582757	chr3:22279938-22279939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566653339	chr3:22279946-22279947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139281293	chr3:22279947-22279948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180885215	chr3:22279953-22279954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555786934	chr3:22279994-22279995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575611085	chr3:22280020-22280021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185944588	chr3:22280027-22280028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557159528	chr3:22280051-22280052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575719837	chr3:22280121-22280122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546076963	chr3:22280127-22280128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144120756	chr3:22280139-22280140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368475590	chr3:22280191-22280192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540879760	chr3:22280204-22280205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564983799	chr3:22280217-22280218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562387466	chr3:22280284-22280285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370768632	chr3:22280302-22280303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5847168	chr3:22280315-22280316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538388472	chr3:22280365-22280366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550633918	chr3:22280371-22280372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146513913	chr3:22280435-22280436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558586721	chr3:22280444-22280445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190332130	chr3:22280445-22280446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182773929	chr3:22280470-22280471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566622066	chr3:22280508-22280509	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
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
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
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22278800-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:22279200-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
6	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:22286200-22286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:22286200-22287600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:22286200-22287600	Enhancers	Fetal Stomach	stomach
11	chr3:22286200-22287600	Enhancers	HMEC	breast
12	chr3:22286200-22287600	Enhancers	NHDF-Ad	bronchial
13	chr3:22286200-22287600	Enhancers	NHLF	lung
14	chr3:22286200-22288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:22286200-22288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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