Variant report

Variant	nsv589895
Chromosome Location	chr3:21622387-21638815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21550526..21552335-chr3:21623798..21625685,2	K562	blood:
2	chr3:21634166..21637073-chr3:21637785..21639795,3	K562	blood:
3	chr3:21622806..21624810-chr3:21626312..21628211,2	K562	blood:
4	chr3:21634166..21637073-chr3:21637785..21639795,3	K562	blood:
5	chr3:21631953..21633600-chr3:21636027..21637703,2	K562	blood:
6	chr3:21622806..21624810-chr3:21626312..21628211,2	K562	blood:
7	chr3:21631953..21633600-chr3:21636027..21637703,2	K562	blood:
8	chr3:21613754..21616007-chr3:21629538..21631855,2	K562	blood:

No data

Extended variants
information (count: 742 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17009071	chr3:21622387-21622388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547045701	chr3:21622411-21622412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189368376	chr3:21622500-21622501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77499153	chr3:21622516-21622517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533623635	chr3:21622583-21622584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368292669	chr3:21622598-21622599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556931485	chr3:21622641-21622642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs137904285	chr3:21622656-21622657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs462594	chr3:21622658-21622659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536904929	chr3:21622669-21622670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149482760	chr3:21622676-21622677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372260890	chr3:21622719-21622720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576939470	chr3:21622722-21622723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540845880	chr3:21622756-21622757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553165831	chr3:21622763-21622764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180903034	chr3:21622771-21622772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541993121	chr3:21622783-21622784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143952595	chr3:21622790-21622791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12637139	chr3:21622803-21622804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546486860	chr3:21622842-21622843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564648525	chr3:21622848-21622849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114930836	chr3:21622849-21622850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183597358	chr3:21622856-21622857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80328662	chr3:21622866-21622867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78874949	chr3:21622907-21622908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550667410	chr3:21622918-21622919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141265566	chr3:21622931-21622932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539468570	chr3:21622935-21622936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs465749	chr3:21622951-21622952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547385686	chr3:21622963-21622964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566045048	chr3:21622975-21622976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557757262	chr3:21622988-21622989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570638497	chr3:21623002-21623003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147423177	chr3:21623030-21623031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529568988	chr3:21623031-21623032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189435957	chr3:21623035-21623036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541907137	chr3:21623085-21623086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181427842	chr3:21623115-21623116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557109863	chr3:21623164-21623165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575285912	chr3:21623170-21623171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545795640	chr3:21623246-21623247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539422825	chr3:21623256-21623257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139746413	chr3:21623269-21623270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145316464	chr3:21623310-21623311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540921249	chr3:21623315-21623316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562098063	chr3:21623325-21623326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386659189	chr3:21623344-21623345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567111918	chr3:21623362-21623363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34356086	chr3:21623375-21623376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550630695	chr3:21623395-21623396	Weak transcription	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21603200-21634400	Weak transcription	Left Ventricle	heart
2	chr3:21618400-21643200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:21622400-21622800	Enhancers	Aorta	Aorta
4	chr3:21622400-21623200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr3:21622800-21634400	Weak transcription	Aorta	Aorta
6	chr3:21623200-21625800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:21625000-21655200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:21625800-21629400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:21634200-21660200	Weak transcription	K562	blood
10	chr3:21634400-21634600	Enhancers	Left Ventricle	heart
11	chr3:21634400-21634800	Enhancers	Psoas Muscle	Psoas
12	chr3:21634400-21636200	Enhancers	Aorta	Aorta
13	chr3:21634800-21635800	Weak transcription	Psoas Muscle	Psoas
14	chr3:21635200-21635600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:21635400-21636000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:21635800-21636000	Enhancers	Psoas Muscle	Psoas
17	chr3:21636200-21647400	Weak transcription	Aorta	Aorta

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