Variant report

Variant	nsv508211
Chromosome Location	chr3:20973371-21025544
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:4)
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	chr20:45985741..45987613-chr3:20974886..20976689,2	MCF-7	breast:
2	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
3	chr3:21020852..21022735-chr3:21071640..21073973,2	K562	blood:
4	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:
5	chr3:20965735..20967990-chr3:20971658..20973714,2	K562	blood:
6	chr3:20994011..20995971-chr3:21005027..21007976,2	K562	blood:
7	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
8	chr3:21018630..21020462-chr3:21036904..21039487,2	K562	blood:
9	chr3:20982315..20984079-chr3:20994632..20996154,2	K562	blood:
10	chr3:20992240..20993903-chr3:21005773..21007953,2	K562	blood:
11	chr3:20964849..20967779-chr3:20982374..20984223,2	MCF-7	breast:
12	chr3:20746425..20748094-chr3:20975073..20978027,2	K562	blood:
13	chr3:20884787..20886669-chr3:20993293..20995378,2	K562	blood:
14	chr3:20982315..20984079-chr3:20994632..20996154,2	K562	blood:
15	chr3:20980465..20983126-chr3:20989723..20991835,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-9	chr3:20984797-20984912	NONHSAT088631
2	lnc-KAT2B-9	chr3:20995660-20995726	NONHSAT088631
3	lnc-KAT2B-10	chr3:21011020-21011417	NONHSAT088634
4	lnc-KAT2B-10	chr3:21011809-21011871	NONHSAT088634

No data

Extended variants
information (count: 1150 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1150 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552400895	chr3:20974291-20974292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372209549	chr3:20974329-20974330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150809069	chr3:20974345-20974346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535282591	chr3:20974415-20974416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553393809	chr3:20974453-20974454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569391603	chr3:20974461-20974462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568414736	chr3:20974462-20974463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9837803	chr3:20974506-20974507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67741162	chr3:20974578-20974579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374087604	chr3:20974594-20974595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543637404	chr3:20974596-20974597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372321878	chr3:20974612-20974613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187492846	chr3:20974613-20974614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541292727	chr3:20974618-20974619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559406824	chr3:20974634-20974635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529680033	chr3:20974709-20974710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541453419	chr3:20974717-20974718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192472960	chr3:20974749-20974750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76054336	chr3:20974859-20974860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs571655522	chr3:20974904-20974905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564654788	chr3:20974937-20974938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs116615861	chr3:20974938-20974939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73819229	chr3:20974941-20974942	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs369412162	chr3:20974954-20974955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs114702998	chr3:20974984-20974985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs554171171	chr3:20974985-20974986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs373950539	chr3:20975038-20975039	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs17007834	chr3:20975074-20975075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs139253485	chr3:20975088-20975089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149991600	chr3:20975097-20975098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539897336	chr3:20975109-20975110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs78567893	chr3:20975121-20975122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs9880674	chr3:20975122-20975123	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145240473	chr3:20975125-20975126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs80059950	chr3:20975134-20975135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34168894	chr3:20975135-20975136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543886525	chr3:20975150-20975151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs563778520	chr3:20975189-20975190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs182692326	chr3:20977206-20977207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562295435	chr3:20977208-20977209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533172368	chr3:20977225-20977226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113790038	chr3:20977289-20977290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141797230	chr3:20977344-20977345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533551403	chr3:20977385-20977386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190327724	chr3:20977447-20977448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567283816	chr3:20977466-20977467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537896423	chr3:20977482-20977483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371186567	chr3:20977488-20977489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373768975	chr3:20977530-20977531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556318439	chr3:20977560-20977561	Enhancers	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20974200-20974400	Enhancers	Aorta	Aorta
2	chr3:20974400-20974800	Weak transcription	Aorta	Aorta
3	chr3:20974800-20975200	ZNF genes & repeats	Aorta	Aorta
4	chr3:20977200-20977600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:20999000-20999800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr3:20999000-21000000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:20999000-21000000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:20999000-21000000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:20999600-21000000	Enhancers	Fetal Lung	lung
10	chr3:20999600-21000200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:21000400-21000800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:21000800-21015600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:21003200-21003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:21003600-21003800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:21003800-21007000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:21007400-21011000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:21010800-21011000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr3:21011000-21011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:21011000-21013600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:21011000-21016800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:21011400-21012400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:21012400-21014000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:21013600-21014000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr3:21014000-21014800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:21014000-21016000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:21014800-21015600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:21015600-21016000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:21015600-21016400	Enhancers	K562	blood
29	chr3:21015600-21017600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:21015800-21016000	Enhancers	Fetal Muscle Trunk	muscle
31	chr3:21016000-21016200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:21016000-21016400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:21016000-21016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:21016000-21017200	Enhancers	Fetal Muscle Leg	muscle
35	chr3:21016000-21018400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:21016200-21016600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr3:21016200-21016600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:21016200-21017000	Enhancers	Aorta	Aorta
39	chr3:21016200-21017600	Enhancers	Adipose Nuclei	Adipose
40	chr3:21016400-21016800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:21016400-21017000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:21016400-21017000	Enhancers	Left Ventricle	heart
43	chr3:21016400-21017200	Enhancers	Right Ventricle	heart
44	chr3:21016400-21017200	Enhancers	NHDF-Ad	bronchial
45	chr3:21016400-21017400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:21016600-21017200	Enhancers	Psoas Muscle	Psoas
47	chr3:21016600-21017600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:21016600-21017600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:21016600-21018600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:21016800-21017200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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