Variant report

Variant	nsv589861
Chromosome Location	chr3:20430932-20498749
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
2	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
3	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:
4	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:
5	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
6	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
7	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1

No data

Extended variants
information (count: 1351 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1351 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10510501	chr3:20430932-20430933	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369368581	chr3:20430936-20430937	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs144200173	chr3:20430944-20430945	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs571261616	chr3:20430947-20430948	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182475118	chr3:20430993-20430994	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs75389954	chr3:20431012-20431013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs564384451	chr3:20431031-20431032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs75007836	chr3:20431041-20431042	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs376832048	chr3:20431044-20431045	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs537153013	chr3:20431124-20431125	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs369723485	chr3:20431134-20431135	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs77990201	chr3:20431188-20431189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs541057366	chr3:20431198-20431199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs552677884	chr3:20431216-20431217	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs372876123	chr3:20431235-20431236	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs187847874	chr3:20431247-20431248	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs191506056	chr3:20431248-20431249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs6773111	chr3:20431317-20431318	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530575983	chr3:20431331-20431332	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs573678065	chr3:20431355-20431356	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs542786103	chr3:20431357-20431358	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs146532902	chr3:20431395-20431396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs564212695	chr3:20431417-20431418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs183238575	chr3:20431427-20431428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs546631661	chr3:20431434-20431435	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs59845186	chr3:20431438-20431439	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs188690534	chr3:20431501-20431502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs6770708	chr3:20431508-20431509	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547892126	chr3:20431526-20431527	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs6770717	chr3:20431544-20431545	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs113590735	chr3:20431562-20431563	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs569450956	chr3:20431665-20431666	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141125316	chr3:20431672-20431673	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs558362221	chr3:20431687-20431688	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs570593506	chr3:20431708-20431709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs534696296	chr3:20431733-20431734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs552979503	chr3:20431736-20431737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs550884708	chr3:20431791-20431792	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs574304420	chr3:20431925-20431926	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs542113355	chr3:20431955-20431956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs371151032	chr3:20431965-20431966	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs34373881	chr3:20432033-20432034	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs4857944	chr3:20432042-20432043	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144849370	chr3:20432086-20432087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563932207	chr3:20432116-20432117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4858190	chr3:20432211-20432212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561171557	chr3:20432228-20432229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193081013	chr3:20432250-20432251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183552195	chr3:20432295-20432296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551280716	chr3:20432298-20432299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20427600-20433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:20433000-20433400	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:20433000-20433600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:20433200-20433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:20433200-20433600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:20433400-20435800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr3:20433600-20435800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:20435600-20436200	ZNF genes & repeats	Fetal Intestine Small	intestine
9	chr3:20435800-20436000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:20435800-20436200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:20435800-20436200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:20435800-20436200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:20435800-20436200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:20436000-20436200	ZNF genes & repeats	Pancreas	Pancrea
15	chr3:20436000-20448200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:20436200-20445200	Weak transcription	Fetal Intestine Small	intestine
17	chr3:20436200-20445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:20436200-20453400	Weak transcription	Pancreas	Pancrea
19	chr3:20437800-20438400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:20441400-20442000	Enhancers	Aorta	Aorta
21	chr3:20442200-20443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:20442800-20443400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:20443200-20443400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:20443200-20446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:20445200-20446200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:20445200-20446200	Enhancers	Small Intestine	intestine
27	chr3:20445200-20447200	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:20445200-20449000	Enhancers	Fetal Intestine Large	intestine
29	chr3:20445200-20450000	Enhancers	Fetal Intestine Small	intestine
30	chr3:20445200-20450000	Enhancers	Fetal Stomach	stomach
31	chr3:20445400-20445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:20445600-20445800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:20445600-20448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:20445800-20446000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:20445800-20446000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:20445800-20448400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr3:20446000-20446800	Enhancers	Fetal Brain Male	brain
38	chr3:20446000-20447400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:20446200-20448200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr3:20446800-20448200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:20447000-20447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:20447000-20448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:20447000-20448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:20447200-20447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:20447200-20447800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:20447200-20448400	Enhancers	NH-A	brain
47	chr3:20447200-20448400	Enhancers	NHDF-Ad	bronchial
48	chr3:20447400-20447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:20447400-20448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:20447800-20448400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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