Variant report

Variant	nsv589882
Chromosome Location	chr3:21083096-21179332
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
2	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:
3	chr3:21087665..21089357-chr3:21090092..21092558,2	MCF-7	breast:
4	chr3:21088992..21091588-chr3:21092168..21094857,2	K562	blood:
5	chr3:21097762..21100655-chr3:21104242..21105984,2	MCF-7	breast:
6	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
7	chr3:21132848..21134885-chr3:21136213..21138179,2	K562	blood:
8	chr20:22586398..22587122-chr3:21089488..21090217,2	MCF-7	breast:
9	chr3:21049220..21051443-chr3:21113228..21114946,2	K562	blood:
10	chr3:21100031..21101592-chr3:21111513..21113234,2	K562	blood:
11	chr3:21086967..21088509-chr3:21091717..21094188,2	K562	blood:
12	chr3:21087665..21089357-chr3:21090092..21092558,2	MCF-7	breast:
13	chr3:21175037..21177371-chr3:21182384..21184259,2	K562	blood:
14	chr3:21086967..21088509-chr3:21091717..21094188,2	K562	blood:
15	chr3:21088992..21091588-chr3:21092168..21094857,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-11	chr3:21084468-21084602	NONHSAT088635
2	lnc-KAT2B-11	chr3:21083244-21083384	NONHSAT088635

No data

Extended variants
information (count: 1629 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13067076	chr3:21083096-21083097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534479930	chr3:21083117-21083118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62234872	chr3:21083140-21083141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573945736	chr3:21083166-21083167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73819272	chr3:21083180-21083181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs80196476	chr3:21083181-21083182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181626874	chr3:21083301-21083302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370147550	chr3:21083303-21083304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13068048	chr3:21083347-21083348	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs572832513	chr3:21083385-21083386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531396081	chr3:21083391-21083392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369816031	chr3:21083409-21083410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141910916	chr3:21083423-21083424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548080970	chr3:21083439-21083440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150827717	chr3:21083476-21083477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139275998	chr3:21083567-21083568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376518364	chr3:21083595-21083596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186316032	chr3:21083598-21083599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372863393	chr3:21083627-21083628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3927160	chr3:21083655-21083656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1969031	chr3:21083670-21083671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567048527	chr3:21083702-21083703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534511254	chr3:21083750-21083751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112133653	chr3:21083751-21083752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568100589	chr3:21083794-21083795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150009580	chr3:21083851-21083852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576846215	chr3:21083889-21083890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538286591	chr3:21083898-21083899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189540333	chr3:21083899-21083900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144300758	chr3:21083917-21083918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370981692	chr3:21083926-21083927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557556938	chr3:21083933-21083934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572664746	chr3:21083934-21083935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540163584	chr3:21083935-21083936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373807997	chr3:21083936-21083937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573848003	chr3:21083978-21083979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1532461	chr3:21083986-21083987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562451624	chr3:21083990-21083991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533087996	chr3:21084030-21084031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72059223	chr3:21084078-21084079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551461505	chr3:21084140-21084141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560678234	chr3:21084144-21084145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370887258	chr3:21084185-21084186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180780594	chr3:21084207-21084208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549308812	chr3:21084235-21084236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1391143	chr3:21084241-21084242	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531897505	chr3:21084246-21084247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564839391	chr3:21084248-21084249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372647482	chr3:21084250-21084251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550178954	chr3:21084251-21084252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21081800-21084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21084200-21085000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:21085000-21086400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:21086400-21086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:21086800-21108800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:21090400-21092000	Enhancers	Fetal Lung	lung
7	chr3:21090800-21092200	Enhancers	Brain Germinal Matrix	brain
8	chr3:21092000-21100600	Weak transcription	Fetal Lung	lung
9	chr3:21095400-21095800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:21096200-21097000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:21096400-21096600	Weak transcription	Aorta	Aorta
12	chr3:21096400-21097000	Enhancers	NHDF-Ad	bronchial
13	chr3:21096600-21096800	ZNF genes & repeats	Aorta	Aorta
14	chr3:21096800-21100800	Weak transcription	Aorta	Aorta
15	chr3:21097000-21100800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:21097000-21101000	Weak transcription	NHDF-Ad	bronchial
17	chr3:21100400-21100600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:21100600-21101200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:21100600-21101600	Enhancers	Fetal Lung	lung
20	chr3:21100600-21101600	Enhancers	Fetal Stomach	stomach
21	chr3:21100800-21101400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:21100800-21101400	Enhancers	Aorta	Aorta
23	chr3:21101000-21101400	Enhancers	Stomach Smooth Muscle	stomach
24	chr3:21101000-21101400	Enhancers	NHDF-Ad	bronchial
25	chr3:21101200-21101600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:21101400-21104600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:21101400-21106800	Weak transcription	Aorta	Aorta
28	chr3:21101600-21104000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:21101600-21104000	Weak transcription	Fetal Lung	lung
30	chr3:21101600-21104000	Weak transcription	Fetal Stomach	stomach
31	chr3:21103800-21104800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr3:21104000-21104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:21104000-21104600	Enhancers	Fetal Lung	lung
34	chr3:21104000-21105200	Enhancers	Fetal Stomach	stomach
35	chr3:21104600-21104800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:21104600-21105200	Enhancers	Fetal Muscle Leg	muscle
37	chr3:21104600-21108600	Weak transcription	Fetal Lung	lung
38	chr3:21105200-21106000	Weak transcription	Fetal Stomach	stomach
39	chr3:21106000-21106200	Enhancers	Fetal Stomach	stomach
40	chr3:21106800-21107000	Enhancers	Fetal Muscle Leg	muscle
41	chr3:21108600-21109000	Enhancers	Fetal Kidney	kidney
42	chr3:21108600-21109200	Enhancers	Fetal Lung	lung
43	chr3:21126800-21128600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:21128600-21131000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:21132600-21132800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:21132800-21139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:21145200-21146200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:21147400-21148000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:21147400-21148000	Enhancers	Gastric	stomach
50	chr3:21150200-21151000	Enhancers	Brain Germinal Matrix	brain

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