Variant report

Variant	nsv3334
Chromosome Location	chr20:22773462-22818362
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:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:22770829..22772880-chr20:22773883..22775760,2	MCF-7	breast:
2	chr20:22778208..22779961-chr20:22785655..22787174,2	MCF-7	breast:
3	chr20:22808161..22811157-chr20:23128815..23130470,2	K562	blood:
4	chr20:22815149..22818148-chr20:22902918..22904475,2	MCF-7	breast:
5	chr20:22798693..22801110-chr20:22814481..22817052,2	MCF-7	breast:
6	chr20:22791420..22794009-chr20:22795850..22798324,2	MCF-7	breast:
7	chr20:22799458..22802194-chr20:22807064..22808705,2	K562	blood:
8	chr20:22813871..22817420-chr20:22819841..22822325,3	K562	blood:
9	chr20:22776919..22778852-chr20:22779074..22780596,2	MCF-7	breast:
10	chr20:22815412..22817658-chr20:22840004..22842490,2	MCF-7	breast:
11	chr20:22813063..22815062-chr20:22900022..22902722,2	MCF-7	breast:
12	chr20:22776919..22778852-chr20:22779074..22780596,2	MCF-7	breast:
13	chr20:22766590..22768153-chr20:22786046..22787967,2	MCF-7	breast:
14	chr20:22751785..22755071-chr20:22774743..22777587,3	MCF-7	breast:
15	chr20:22774202..22776469-chr20:22777682..22779522,2	MCF-7	breast:
16	chr20:22788642..22790581-chr20:22792118..22794970,3	MCF-7	breast:
17	chr20:22788642..22790581-chr20:22792118..22794970,3	MCF-7	breast:
18	chr20:22808583..22810222-chr20:22813273..22814828,2	MCF-7	breast:
19	chr20:22800282..22803040-chr20:22808872..22810526,2	K562	blood:
20	chr20:22791420..22794009-chr20:22795850..22798324,2	MCF-7	breast:
21	chr20:22808583..22810222-chr20:22813273..22814828,2	MCF-7	breast:
22	chr20:22710759..22713197-chr20:22776694..22778472,2	MCF-7	breast:
23	chr20:22794571..22796277-chr20:23186495..23188754,2	MCF-7	breast:
24	chr20:22817244..22819996-chr20:22821224..22823092,2	K562	blood:
25	chr20:22795661..22796604-chr20:22955064..22955657,3	MCF-7	breast:
26	chr20:22789066..22792093-chr20:23029198..23032622,3	MCF-7	breast:
27	chr20:22799458..22802194-chr20:22807064..22808705,2	K562	blood:
28	chr20:22802506..22805267-chr20:22898919..22900611,2	MCF-7	breast:
29	chr20:22758707..22761958-chr20:22773482..22776532,3	MCF-7	breast:
30	chr20:22801106..22803065-chr20:22804637..22807434,2	MCF-7	breast:
31	chr20:22708241..22708913-chr20:22785728..22786701,2	MCF-7	breast:
32	chr20:22774202..22776469-chr20:22777682..22779522,2	MCF-7	breast:
33	chr20:22801106..22803065-chr20:22804637..22807434,2	MCF-7	breast:
34	chr20:22798693..22801110-chr20:22814481..22817052,2	MCF-7	breast:
35	chr20:22778208..22779961-chr20:22785655..22787174,2	MCF-7	breast:
36	chr20:22800282..22803040-chr20:22808872..22810526,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-15	chr20:22786445-22786490	NONHSAT079012
2	lnc-SSTR4-15	chr20:22791636-22791924	NONHSAT079012

No data

Variant related genes	Relation type
ENSG00000178726	chromatin interactions

Extended variants
information (count: 2097 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2097 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74773855	chr20:22773469-22773470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115116204	chr20:22773470-22773471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6113812	chr20:22773476-22773477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373483186	chr20:22773511-22773512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145588300	chr20:22773515-22773516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs36080939	chr20:22773526-22773527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551586066	chr20:22773539-22773540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376859305	chr20:22773545-22773546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7347329	chr20:22773608-22773609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571184241	chr20:22773624-22773625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147740355	chr20:22773628-22773629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73900576	chr20:22773658-22773659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573261626	chr20:22773708-22773709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548607777	chr20:22773742-22773743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536247095	chr20:22773781-22773782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552792654	chr20:22773825-22773826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114339517	chr20:22773827-22773828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545258012	chr20:22773883-22773884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565508055	chr20:22773884-22773885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75221714	chr20:22773900-22773901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146909050	chr20:22773911-22773912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200496780	chr20:22773922-22773923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201147596	chr20:22773923-22773924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10664474	chr20:22773924-22773925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs386393546	chr20:22773931-22773932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11474665	chr20:22773934-22773935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561568819	chr20:22773943-22773944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370466376	chr20:22774110-22774111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530114363	chr20:22774113-22774114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547011856	chr20:22774129-22774130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560366781	chr20:22774137-22774138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147970884	chr20:22774156-22774157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542491171	chr20:22774177-22774178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6106558	chr20:22774188-22774189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552414279	chr20:22774192-22774193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140712261	chr20:22774236-22774237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7266128	chr20:22774248-22774249	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550415193	chr20:22774285-22774286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150113825	chr20:22774316-22774317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35100146	chr20:22774355-22774356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535864225	chr20:22774382-22774383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552969481	chr20:22774405-22774406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572831478	chr20:22774412-22774413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138552929	chr20:22774533-22774534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113703229	chr20:22774561-22774562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575858667	chr20:22774613-22774614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4815143	chr20:22774659-22774660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114627512	chr20:22774668-22774669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4815144	chr20:22774704-22774705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34339983	chr20:22774712-22774713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22770400-22775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:22770600-22775800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:22771000-22774200	Weak transcription	Aorta	Aorta
4	chr20:22771000-22774200	Weak transcription	Fetal Muscle Leg	muscle
5	chr20:22771000-22775400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr20:22771000-22776000	Weak transcription	Ovary	ovary
7	chr20:22772000-22778600	Enhancers	HMEC	breast
8	chr20:22772200-22777400	Enhancers	Placenta	Placenta
9	chr20:22772800-22775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:22773000-22774000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr20:22773000-22774800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr20:22773000-22774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr20:22773000-22775000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr20:22773200-22773600	Weak transcription	Right Atrium	heart
15	chr20:22773200-22774200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr20:22773200-22774200	Weak transcription	A549	lung
17	chr20:22773200-22774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:22773200-22774800	Weak transcription	NHEK	skin
19	chr20:22773600-22773800	Enhancers	Right Atrium	heart
20	chr20:22773800-22776000	Weak transcription	Right Atrium	heart
21	chr20:22774000-22776600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:22774000-22778200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr20:22774200-22774400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:22774200-22774400	Enhancers	Aorta	Aorta
25	chr20:22774200-22774600	Enhancers	HSMM	muscle
26	chr20:22774200-22775600	Enhancers	A549	lung
27	chr20:22774200-22776000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:22774200-22778600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:22774200-22778600	Enhancers	Fetal Muscle Leg	muscle
30	chr20:22774200-22778600	Enhancers	HUVEC	blood vessel
31	chr20:22774400-22774800	Weak transcription	Aorta	Aorta
32	chr20:22774400-22775400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr20:22774400-22778400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:22774600-22775000	Weak transcription	HSMM	muscle
35	chr20:22774600-22776200	Enhancers	HSMMtube	muscle
36	chr20:22774600-22776800	Enhancers	Stomach Mucosa	stomach
37	chr20:22774600-22777600	Enhancers	Hela-S3	cervix
38	chr20:22774800-22775000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr20:22774800-22775000	Enhancers	NHLF	lung
40	chr20:22774800-22776200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr20:22774800-22776200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr20:22774800-22776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr20:22774800-22776600	Enhancers	Aorta	Aorta
44	chr20:22774800-22777400	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:22774800-22777400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:22774800-22777800	Enhancers	Fetal Stomach	stomach
47	chr20:22774800-22778800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:22774800-22779000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr20:22774800-22779000	Enhancers	NHEK	skin
50	chr20:22775000-22775600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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