Variant report

Variant	esv9764
Chromosome Location	chr3:21711853-21712513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21705075..21707006-chr3:21711502..21714008,3	K562	blood:
2	chr3:21709988..21712111-chr3:21717387..21720312,2	K562	blood:
3	chr3:21705697..21707746-chr3:21710936..21713423,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569633761	chr3:21711879-21711880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34266670	chr3:21711950-21711951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373254823	chr3:21712002-21712003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536801564	chr3:21712057-21712058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558338264	chr3:21712058-21712059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576862170	chr3:21712067-21712068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184513782	chr3:21712091-21712092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139525067	chr3:21712139-21712140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535079107	chr3:21712140-21712141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112294161	chr3:21712141-21712142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113022770	chr3:21712142-21712143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199660410	chr3:21712143-21712144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149345021	chr3:21712151-21712152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56287452	chr3:21712154-21712155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72138026	chr3:21712166-21712167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13092289	chr3:21712167-21712168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114764260	chr3:21712191-21712192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574382047	chr3:21712197-21712198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541862476	chr3:21712222-21712223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189455464	chr3:21712256-21712257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192766015	chr3:21712261-21712262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149823343	chr3:21712273-21712274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576011902	chr3:21712275-21712276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529708244	chr3:21712287-21712288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149608257	chr3:21712325-21712326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369234589	chr3:21712355-21712356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201352013	chr3:21712371-21712372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199962554	chr3:21712377-21712378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528585700	chr3:21712379-21712380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529612442	chr3:21712390-21712391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562100830	chr3:21712393-21712394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184834762	chr3:21712396-21712397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114297231	chr3:21712411-21712412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549477116	chr3:21712421-21712422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62237420	chr3:21712433-21712434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536986503	chr3:21712440-21712441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144354267	chr3:21712450-21712451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9876576	chr3:21712477-21712478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549856989	chr3:21712482-21712483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114008759	chr3:21712505-21712506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21696600-21713400	Weak transcription	Fetal Heart	heart
2	chr3:21696800-21713200	Weak transcription	NHDF-Ad	bronchial
3	chr3:21705200-21713800	Weak transcription	Psoas Muscle	Psoas
4	chr3:21707400-21713800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
6	chr3:21707800-21712400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:21707800-21713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:21708000-21715600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:21708200-21713200	Weak transcription	NHLF	lung
11	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:21709800-21713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:21709800-21713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:21709800-21714400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:21710000-21712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:21710000-21713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:21710000-21713400	Weak transcription	HMEC	breast
18	chr3:21710000-21713800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:21710000-21713800	Weak transcription	Aorta	Aorta
20	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
22	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:21712200-21715200	Enhancers	HUVEC	blood vessel
24	chr3:21712400-21712800	Weak transcription	HSMM	muscle
25	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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