Variant report

Variant	esv3396639
Chromosome Location	chr3:21850098-21853996
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150347211	chr3:21850099-21850100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7646597	chr3:21850106-21850107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557748305	chr3:21850111-21850112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6802746	chr3:21850118-21850119	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540020671	chr3:21850131-21850132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555460690	chr3:21850145-21850146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573732033	chr3:21850152-21850153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188044666	chr3:21850160-21850161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145022492	chr3:21850174-21850175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371098805	chr3:21850210-21850211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376632344	chr3:21850212-21850213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561781902	chr3:21850213-21850214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6550626	chr3:21850242-21850243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75044542	chr3:21850278-21850279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376305552	chr3:21850280-21850281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549261734	chr3:21850285-21850286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573440955	chr3:21850297-21850298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567428976	chr3:21850311-21850312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550770858	chr3:21850314-21850315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181389531	chr3:21850326-21850327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549861867	chr3:21850328-21850329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149105989	chr3:21850346-21850347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143167325	chr3:21850350-21850351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558049132	chr3:21850360-21850361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184591455	chr3:21850364-21850365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533996333	chr3:21850368-21850369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570932224	chr3:21850370-21850371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138939443	chr3:21850388-21850389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573875997	chr3:21850391-21850392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs59212732	chr3:21853808-21853809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs540323824	chr3:21853809-21853810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs542026020	chr3:21853820-21853821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561713213	chr3:21853846-21853847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542704275	chr3:21853850-21853851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs528874137	chr3:21853852-21853853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544956134	chr3:21853884-21853885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs563007917	chr3:21853947-21853948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112687514	chr3:21853958-21853959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143273196	chr3:21853959-21853960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs560726995	chr3:21853961-21853962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs375462494	chr3:21853976-21853977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527827985	chr3:21853983-21853984	ZNF genes & repeats	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
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21844800-21850200	Weak transcription	Aorta	Aorta
2	chr3:21850000-21850400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:21850200-21850400	Enhancers	Aorta	Aorta
4	chr3:21853800-21854400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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