Variant report

Variant	nsv589908
Chromosome Location	chr3:21722700-21725811
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	chr3:21721634..21724337-chr3:21728946..21730736,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009299	chr3:21722700-21722701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555271369	chr3:21722711-21722712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13324265	chr3:21722718-21722719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560722275	chr3:21722722-21722723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571784570	chr3:21722731-21722732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9826789	chr3:21722739-21722740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550582248	chr3:21722783-21722784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34225833	chr3:21722785-21722786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367942289	chr3:21722790-21722791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529830466	chr3:21722791-21722792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141604014	chr3:21722808-21722809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs55872870	chr3:21722816-21722817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80038170	chr3:21722821-21722822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143356935	chr3:21722842-21722843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570749488	chr3:21722892-21722893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55789593	chr3:21722950-21722951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568453757	chr3:21722952-21722953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367690559	chr3:21722960-21722961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146737660	chr3:21722986-21722987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563230107	chr3:21723004-21723005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111253479	chr3:21723019-21723020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74285133	chr3:21723103-21723104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577648262	chr3:21723111-21723112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541618788	chr3:21723130-21723131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552897634	chr3:21723133-21723134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560036600	chr3:21723152-21723153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35990935	chr3:21723154-21723155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199895109	chr3:21723178-21723179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201173045	chr3:21723180-21723181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs9831136	chr3:21723181-21723182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201272220	chr3:21723189-21723190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5847124	chr3:21723190-21723191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs202160640	chr3:21723199-21723200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184193772	chr3:21723202-21723203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552557550	chr3:21723203-21723204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28477464	chr3:21723204-21723205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571192145	chr3:21723239-21723240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139404712	chr3:21723264-21723265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555545792	chr3:21723298-21723299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs5847125	chr3:21723319-21723320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75769231	chr3:21723321-21723322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547185704	chr3:21723334-21723335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565578310	chr3:21723349-21723350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144151471	chr3:21723362-21723363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200317868	chr3:21723370-21723371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs66874702	chr3:21723373-21723374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs114921118	chr3:21723374-21723375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116392692	chr3:21723400-21723401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537093332	chr3:21723417-21723418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs202192035	chr3:21723419-21723420	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
2	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
3	chr3:21718800-21723400	Weak transcription	Fetal Stomach	stomach
4	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
5	chr3:21720600-21724000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:21720600-21725000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:21721200-21725200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:21721600-21722800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:21721600-21727600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr3:21722400-21724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:21722600-21725200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:21722800-21723000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:21723400-21724000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:21723400-21724000	Enhancers	NHDF-Ad	bronchial
15	chr3:21723400-21724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:21723400-21724600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:21723400-21725800	Enhancers	Fetal Stomach	stomach
18	chr3:21723600-21723800	Enhancers	Fetal Kidney	kidney
19	chr3:21723600-21724600	Enhancers	HMEC	breast
20	chr3:21723800-21724400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:21723800-21725200	Weak transcription	Fetal Kidney	kidney
22	chr3:21724000-21725600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:21724000-21736000	Weak transcription	NHDF-Ad	bronchial
24	chr3:21724200-21724600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:21724400-21725200	Enhancers	Left Ventricle	heart
26	chr3:21724600-21746400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:21724800-21735800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:21725200-21725400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr3:21725200-21725400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:21725200-21725600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr3:21725200-21725600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:21725200-21725800	Enhancers	Fetal Kidney	kidney
33	chr3:21725200-21725800	Enhancers	Stomach Smooth Muscle	stomach
34	chr3:21725200-21728400	Weak transcription	Left Ventricle	heart
35	chr3:21725800-21729000	Weak transcription	Fetal Stomach	stomach

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