Variant report

Variant	nsv515646
Chromosome Location	chr20:23169926-23174214
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:11)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23167380..23172469-chr20:23172590..23175556,6	K562	blood:
2	chr20:23128680..23132693-chr20:23173285..23175662,3	K562	blood:
3	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
4	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
5	chr20:23173550..23175379-chr20:23179178..23180724,2	K562	blood:
6	chr20:23029649..23032465-chr20:23170734..23172386,2	MCF-7	breast:
7	chr20:23139207..23141620-chr20:23172771..23174787,2	K562	blood:
8	chr20:23159913..23161586-chr20:23172008..23174904,2	K562	blood:
9	chr20:23169059..23171573-chr20:23172797..23175263,2	K562	blood:
10	chr20:23135912..23138297-chr20:23172308..23174497,2	K562	blood:
11	chr20:23173550..23175441-chr20:23179224..23181550,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
2	lnc-SSTR4-2	chr20:23170420-23170935	XLOC_013489
3	lnc-SSTR4-2	chr20:23170420-23170944	XLOC_013489
4	lnc-SSTR4-2	chr20:23170420-23170907	XLOC_013489
5	lnc-SSTR4-2	chr20:23168598-23170942	NONHSAT079044
6	lnc-SSTR4-2	chr20:23170420-23170904	NONHSAT079045

No data

Variant related genes	Relation type
ENSG00000230387	chromatin interactions
ENSG00000201527	chromatin interactions
ENSG00000178726	chromatin interactions
ZNF609	miRNA target sites
VDAC1	miRNA target sites
FOXJ3	miRNA target sites

Extended variants
information (count: 149 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2024897	chr20:23169926-23169927	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532642025	chr20:23169949-23169950	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs75676890	chr20:23169971-23169972	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568926758	chr20:23169986-23169987	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537822176	chr20:23170016-23170017	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs548665583	chr20:23170022-23170023	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs568422513	chr20:23170056-23170057	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536489423	chr20:23170070-23170071	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552888789	chr20:23170135-23170136	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559762453	chr20:23170139-23170140	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs530078315	chr20:23170171-23170172	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs548410595	chr20:23170185-23170186	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs577224349	chr20:23170285-23170286	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs566801566	chr20:23170322-23170323	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs538921643	chr20:23170332-23170333	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558859436	chr20:23170351-23170352	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs844941	chr20:23170358-23170359	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs543816506	chr20:23170378-23170379	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs192330625	chr20:23170383-23170384	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs184716621	chr20:23170386-23170387	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531014168	chr20:23170418-23170419	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs144479638	chr20:23170419-23170420	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147859137	chr20:23170432-23170433	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs34397775	chr20:23170450-23170451	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs115879095	chr20:23170508-23170509	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs188826811	chr20:23170514-23170515	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs62206884	chr20:23170552-23170553	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs181589255	chr20:23170591-23170592	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs548281223	chr20:23170635-23170636	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs79548655	chr20:23170670-23170671	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200119749	chr20:23170707-23170708	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs41282286	chr20:23170715-23170716	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546852128	chr20:23170725-23170726	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs11896	chr20:23170731-23170732	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141520538	chr20:23170788-23170789	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs186266324	chr20:23170790-23170791	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs553376767	chr20:23170792-23170793	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs150414321	chr20:23170800-23170801	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs190033949	chr20:23170820-23170821	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs138206964	chr20:23170821-23170822	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs541062154	chr20:23170833-23170834	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs373613986	chr20:23170870-23170871	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs180827658	chr20:23170871-23170872	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs539966195	chr20:23170942-23170943	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs185927889	chr20:23170968-23170969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs367747400	chr20:23171032-23171033	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577025394	chr20:23171042-23171043	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545949614	chr20:23171084-23171085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs149153106	chr20:23171117-23171118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531909456	chr20:23171163-23171164	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
small cell lung cancer	17426248	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23162000-23174200	Weak transcription	Left Ventricle	heart
2	chr20:23167200-23170000	Weak transcription	Gastric	stomach
3	chr20:23168600-23170000	Enhancers	Pancreas	Pancrea
4	chr20:23168600-23170800	Enhancers	Lung	lung
5	chr20:23168800-23170200	Weak transcription	Right Ventricle	heart
6	chr20:23169000-23170400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr20:23169200-23171000	Enhancers	Esophagus	oesophagus
8	chr20:23169400-23170000	Weak transcription	Placenta	Placenta
9	chr20:23169400-23172800	Weak transcription	Fetal Muscle Leg	muscle
10	chr20:23169600-23174200	Weak transcription	HSMMtube	muscle
11	chr20:23169600-23180400	Weak transcription	Spleen	Spleen
12	chr20:23170000-23170800	Enhancers	Placenta	Placenta
13	chr20:23170000-23172800	Weak transcription	Pancreas	Pancrea
14	chr20:23170200-23170600	Enhancers	Right Ventricle	heart
15	chr20:23170400-23170800	Enhancers	GM12878-XiMat	blood
16	chr20:23170400-23170800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr20:23170400-23171000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr20:23170600-23171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr20:23170600-23174800	Weak transcription	Right Ventricle	heart
20	chr20:23170800-23174200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr20:23170800-23174400	Weak transcription	Placenta	Placenta
22	chr20:23170800-23176200	Weak transcription	GM12878-XiMat	blood
23	chr20:23171000-23171400	Weak transcription	Esophagus	oesophagus
24	chr20:23171000-23174200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr20:23171400-23171600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:23171400-23171600	Enhancers	Esophagus	oesophagus
27	chr20:23171400-23171600	Enhancers	NHDF-Ad	bronchial
28	chr20:23171600-23172800	Weak transcription	Esophagus	oesophagus
29	chr20:23172800-23173200	Enhancers	Fetal Muscle Leg	muscle
30	chr20:23172800-23173400	Enhancers	Esophagus	oesophagus
31	chr20:23172800-23173400	Enhancers	Pancreas	Pancrea
32	chr20:23173200-23174200	Weak transcription	Fetal Muscle Leg	muscle
33	chr20:23173400-23174200	Weak transcription	Pancreas	Pancrea
34	chr20:23174000-23174200	Enhancers	NHEK	skin
35	chr20:23174200-23174400	Enhancers	Pancreas	Pancrea
36	chr20:23174200-23174800	Enhancers	HSMMtube	muscle
37	chr20:23174200-23174800	Flanking Active TSS	NHEK	skin
38	chr20:23174200-23175200	Enhancers	Fetal Muscle Leg	muscle
39	chr20:23174200-23175200	Enhancers	Left Ventricle	heart
40	chr20:23174200-23175200	Enhancers	K562	blood
41	chr20:23174200-23176000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr20:23174200-23177200	Enhancers	Monocytes-CD14+_RO01746	blood

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