Variant report

Variant	nsv906998
Chromosome Location	chr16:80320056-80371102
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:20)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
2	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
3	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
4	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
5	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
6	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
7	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
8	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
9	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
10	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
11	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
12	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
13	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
14	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
15	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
16	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
17	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
18	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
19	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
20	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-5	chr16:80331572-80331684	ucscGeneNc_uc002fgs_2
2	lnc-DYNLRB2-5	chr16:80330180-80330542	ucscGeneNc_uc002fgs_2
3	lnc-DYNLRB2-5	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2

No data

Extended variants
information (count: 2264 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2264 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1401202	chr16:80320056-80320057	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566340266	chr16:80320079-80320080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141213135	chr16:80320095-80320096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189352625	chr16:80320131-80320132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150313044	chr16:80320149-80320150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567603606	chr16:80320168-80320169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556753929	chr16:80320173-80320174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575260846	chr16:80320174-80320175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8046832	chr16:80320176-80320177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545008533	chr16:80320244-80320245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192516663	chr16:80320245-80320246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564926471	chr16:80320263-80320264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375370110	chr16:80320279-80320280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138274233	chr16:80320294-80320295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540904330	chr16:80320299-80320300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79808655	chr16:80320302-80320303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574399482	chr16:80320307-80320308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9930884	chr16:80320311-80320312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184557013	chr16:80320347-80320348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533463901	chr16:80320366-80320367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536964920	chr16:80320367-80320368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375711284	chr16:80320376-80320377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527713851	chr16:80320384-80320385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116149137	chr16:80320400-80320401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567980481	chr16:80320401-80320402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371861368	chr16:80320419-80320420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143989451	chr16:80320429-80320430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375649735	chr16:80320432-80320433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550317135	chr16:80320454-80320455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569007421	chr16:80320458-80320459	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539512195	chr16:80320483-80320484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189291505	chr16:80320489-80320490	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566580633	chr16:80320504-80320505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533734111	chr16:80320507-80320508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529916319	chr16:80320513-80320514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2626652	chr16:80320520-80320521	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574334059	chr16:80320535-80320536	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544968001	chr16:80320539-80320540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556707526	chr16:80320541-80320542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181711352	chr16:80320568-80320569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79989858	chr16:80320594-80320595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117795656	chr16:80320602-80320603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1484033	chr16:80320647-80320648	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185782461	chr16:80320662-80320663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573538610	chr16:80320665-80320666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375718851	chr16:80320698-80320699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1484034	chr16:80320704-80320705	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs5818283	chr16:80320724-80320725	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147337510	chr16:80320728-80320729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189643575	chr16:80320733-80320734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80319000-80321800	Weak transcription	HSMMtube	muscle
2	chr16:80319600-80321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr16:80319800-80322000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:80320000-80321800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr16:80320000-80321800	Weak transcription	HSMM	muscle
6	chr16:80320000-80322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:80320400-80320800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:80320800-80321200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:80321800-80322600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:80321800-80323000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr16:80321800-80323600	Enhancers	HSMM	muscle
12	chr16:80321800-80323600	Enhancers	HSMMtube	muscle
13	chr16:80322000-80322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:80322000-80322800	Enhancers	Ovary	ovary
15	chr16:80322400-80322800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:80322600-80324200	Enhancers	Fetal Muscle Leg	muscle
17	chr16:80322800-80323800	Weak transcription	Ovary	ovary
18	chr16:80323400-80324200	Enhancers	Fetal Intestine Small	intestine
19	chr16:80323600-80324000	Weak transcription	HSMM	muscle
20	chr16:80324000-80324200	Enhancers	Ovary	ovary
21	chr16:80328200-80329200	Enhancers	HUVEC	blood vessel
22	chr16:80329200-80330400	Weak transcription	HUVEC	blood vessel
23	chr16:80329600-80329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:80329600-80329800	ZNF genes & repeats	HSMM	muscle
25	chr16:80329800-80332200	Weak transcription	HSMM	muscle
26	chr16:80330400-80330600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:80330600-80331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:80331200-80331400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:80331200-80331400	Enhancers	Brain Germinal Matrix	brain
30	chr16:80331400-80332800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:80332200-80332600	Weak transcription	HUVEC	blood vessel
32	chr16:80332200-80333000	Enhancers	Stomach Smooth Muscle	stomach
33	chr16:80332200-80333000	Enhancers	NH-A	brain
34	chr16:80332200-80334600	Enhancers	Pancreas	Pancrea
35	chr16:80332200-80335000	Enhancers	NHDF-Ad	bronchial
36	chr16:80332200-80335400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:80332200-80335600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:80332200-80335800	Enhancers	HSMM	muscle
39	chr16:80332200-80336000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:80332400-80334000	Enhancers	Fetal Lung	lung
41	chr16:80332400-80334200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr16:80332400-80334200	Enhancers	HSMMtube	muscle
43	chr16:80332400-80334400	Enhancers	Fetal Stomach	stomach
44	chr16:80332400-80334400	Enhancers	Gastric	stomach
45	chr16:80332400-80335200	Enhancers	Osteobl	bone
46	chr16:80332600-80333000	Enhancers	Fetal Kidney	kidney
47	chr16:80332600-80334600	Enhancers	NHLF	lung
48	chr16:80332600-80335000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:80332600-80335600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr16:80332600-80335800	Enhancers	A549	lung

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