Variant report

Variant	nsv458948
Chromosome Location	chr20:23234699-23292849
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:10)
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	chr20:23237248..23239097-chr20:23330610..23332850,2	MCF-7	breast:
2	chr20:23277080..23279841-chr20:23280608..23283359,2	K562	blood:
3	chr20:23226825..23230641-chr20:23238537..23241083,3	MCF-7	breast:
4	chr20:23030735..23033607-chr20:23271363..23275068,3	K562	blood:
5	chr20:23030735..23032362-chr20:23272599..23275068,2	K562	blood:
6	chr20:23277266..23279560-chr20:23339707..23341405,2	K562	blood:
7	chr20:23283377..23285228-chr20:23288243..23290841,2	K562	blood:
8	chr20:23129251..23133596-chr20:23289860..23293957,6	K562	blood:
9	chr20:23279560..23282170-chr20:23340908..23343585,2	K562	blood:
10	chr20:23283377..23285228-chr20:23288243..23290841,2	K562	blood:
11	chr20:23277080..23279841-chr20:23280608..23283359,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAPB-5	chr20:23286592-23286753	NONHSAT079048
2	lnc-NAPB-5	chr20:23285688-23285774	NONHSAT079046
3	lnc-NAPB-5	chr20:23285688-23285774	NONHSAT079047
4	lnc-NAPB-5	chr20:23286592-23286642	NONHSAT079046
5	lnc-NAPB-5	chr20:23285432-23285774	NONHSAT079048
6	lnc-NAPB-5	chr20:23286358-23286851	l_2093_chr20:23285239-23286851_testes
7	lnc-NAPB-5	chr20:23285240-23285833	l_2093_chr20:23285239-23286851_testes
8	lnc-NAPB-5	chr20:23285231-23285606	NONHSAT079046
9	lnc-NAPB-5	chr20:23286358-23286492	NONHSAT079047
10	lnc-NAPB-5	chr20:23285231-23285462	NONHSAT079047

No data

Variant related genes	Relation type
ENSG00000125812	chromatin interactions
ENSG00000132661	chromatin interactions
ENSG00000234832	chromatin interactions

Extended variants
information (count: 2419 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2424521	chr20:23234699-23234700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs16985130	chr20:23234725-23234726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541940094	chr20:23234737-23234738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146030421	chr20:23234793-23234794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138782005	chr20:23234801-23234802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368508963	chr20:23234807-23234808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200684899	chr20:23234822-23234823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371897855	chr20:23234826-23234827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571153359	chr20:23234831-23234832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183198870	chr20:23234833-23234834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549223853	chr20:23234851-23234852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549806735	chr20:23234913-23234914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569714058	chr20:23234915-23234916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572163592	chr20:23234993-23234994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535412352	chr20:23235008-23235009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548546402	chr20:23235016-23235017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547245801	chr20:23235060-23235061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141862611	chr20:23235074-23235075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187127962	chr20:23235106-23235107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555943262	chr20:23235116-23235117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191620868	chr20:23235126-23235127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183090039	chr20:23235135-23235136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140614906	chr20:23235182-23235183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377320968	chr20:23235199-23235200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546109366	chr20:23235249-23235250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370354078	chr20:23235268-23235269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556240889	chr20:23235290-23235291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576107423	chr20:23235343-23235344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541417774	chr20:23235359-23235360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373430781	chr20:23235378-23235379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527376502	chr20:23235398-23235399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541647954	chr20:23235442-23235443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78028361	chr20:23235473-23235474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375553386	chr20:23235519-23235520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533495989	chr20:23235535-23235536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550065714	chr20:23235544-23235545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201536091	chr20:23235602-23235603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529265769	chr20:23235655-23235656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549081625	chr20:23235674-23235675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566191220	chr20:23235713-23235714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187737894	chr20:23235766-23235767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553973508	chr20:23235774-23235775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570657977	chr20:23235776-23235777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79645529	chr20:23235791-23235792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556504094	chr20:23235816-23235817	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs576369006	chr20:23235820-23235821	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs541829180	chr20:23235825-23235826	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs555053877	chr20:23235860-23235861	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs115084611	chr20:23235883-23235884	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs554152216	chr20:23235927-23235928	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23214200-23241000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23225600-23235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23226800-23237000	Weak transcription	Gastric	stomach
4	chr20:23229200-23236000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr20:23230800-23236000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:23232800-23237800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:23233000-23237600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23234000-23239800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr20:23234400-23236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:23235400-23238800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr20:23235600-23235800	Enhancers	Brain Germinal Matrix	brain
12	chr20:23235600-23237200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:23235600-23239000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:23235600-23239000	Enhancers	Fetal Muscle Trunk	muscle
15	chr20:23235600-23239800	Enhancers	Fetal Muscle Leg	muscle
16	chr20:23235800-23236000	Bivalent Enhancer	Placenta	Placenta
17	chr20:23235800-23236400	Weak transcription	Brain Germinal Matrix	brain
18	chr20:23236000-23236200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr20:23236000-23236200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr20:23236000-23239400	Enhancers	HSMMtube	muscle
21	chr20:23236000-23239600	Enhancers	Placenta	Placenta
22	chr20:23236000-23239800	Enhancers	HSMM	muscle
23	chr20:23236000-23240200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:23236200-23237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:23236200-23237000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr20:23236400-23236600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:23236400-23236600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:23236400-23236800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr20:23236400-23236800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr20:23236400-23238000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr20:23236400-23238400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr20:23236400-23238600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:23236400-23238600	Enhancers	Lung	lung
34	chr20:23236400-23238600	Enhancers	HUVEC	blood vessel
35	chr20:23236400-23238800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:23236400-23239600	Enhancers	Brain Germinal Matrix	brain
37	chr20:23236400-23239600	Enhancers	Fetal Stomach	stomach
38	chr20:23236400-23239800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr20:23236400-23239800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr20:23236600-23236800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr20:23236600-23236800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr20:23236600-23236800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:23236600-23237000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr20:23236600-23237200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr20:23236600-23237400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr20:23236600-23238600	Enhancers	NH-A	brain
47	chr20:23236600-23239000	Enhancers	Left Ventricle	heart
48	chr20:23236600-23239200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:23236600-23239200	Enhancers	Fetal Lung	lung
50	chr20:23236600-23239600	Enhancers	NHLF	lung

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