Variant report

Variant	nsv833299
Chromosome Location	chr16:80341745-80549683
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:87)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
2	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
3	chr16:80514360..80517168-chr16:80519482..80521395,2	K562	blood:
4	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
5	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
6	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
7	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
8	chr16:80539882..80541462-chr16:80542181..80545248,3	MCF-7	breast:
9	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
10	chr16:80514797..80516399-chr16:80523945..80526501,2	MCF-7	breast:
11	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
12	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
13	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
14	chr16:80514797..80516399-chr16:80523945..80526501,2	MCF-7	breast:
15	chr16:80520580..80522597-chr16:80534049..80536117,2	MCF-7	breast:
16	chr16:80477232..80480135-chr16:80480293..80481825,2	MCF-7	breast:
17	chr16:80374923..80375802-chr16:80560060..80560618,2	MCF-7	breast:
18	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
19	chr16:80514360..80517168-chr16:80519482..80521395,2	K562	blood:
20	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
21	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
22	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:
23	chr16:80516084..80518100-chr16:80527607..80530074,2	K562	blood:
24	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
25	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
26	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
27	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
28	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
29	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
30	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
31	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
32	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
33	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
34	chr16:80533745..80536579-chr16:80846654..80849245,2	MCF-7	breast:
35	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
36	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
37	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
38	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
39	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
40	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
41	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
42	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
43	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
44	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
45	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
46	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
47	chr16:80496333..80498714-chr16:80516089..80518670,2	K562	blood:
48	chr16:80511850..80513590-chr16:80513897..80516256,2	K562	blood:
49	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
50	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-6	chr16:80525114-80525468	ENSG00000259867.1
2	lnc-CDYL2-5	chr16:80547387-80547502	XLOC_012018
3	lnc-CDYL2-6	chr16:80526467-80526662	ENSG00000259867.1
4	lnc-CDYL2-6	chr16:80541466-80541666	ENSG00000259867.1

No data

Variant related genes	Relation type
RAB3IL1	miRNA target sites

Extended variants
information (count: 8836 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:8836 , 50 per page) page: 1 2 3 4 5 6 7 ... 177

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184836679	chr16:80341752-80341753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146716777	chr16:80341788-80341789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57569004	chr16:80341802-80341803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533286838	chr16:80341806-80341807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537638795	chr16:80341817-80341818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566501565	chr16:80341857-80341858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534202821	chr16:80341861-80341862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189319583	chr16:80341906-80341907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149082702	chr16:80341911-80341912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568389827	chr16:80341912-80341913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181635831	chr16:80341913-80341914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60007378	chr16:80341915-80341916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557226515	chr16:80341959-80341960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140419410	chr16:80341964-80341965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560166435	chr16:80341972-80341973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545884906	chr16:80341980-80341981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557885992	chr16:80341993-80341994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185816764	chr16:80342022-80342023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144127513	chr16:80342023-80342024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1807963	chr16:80342061-80342062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552514915	chr16:80342092-80342093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144894490	chr16:80342110-80342111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188617754	chr16:80342121-80342122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548732682	chr16:80342148-80342149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562709094	chr16:80342151-80342152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568846014	chr16:80342155-80342156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs55939393	chr16:80342215-80342216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533371624	chr16:80342246-80342247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538120277	chr16:80342305-80342306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57678928	chr16:80342309-80342310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560223029	chr16:80342310-80342311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375200330	chr16:80342335-80342336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527681677	chr16:80342343-80342344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551134960	chr16:80342398-80342399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549386719	chr16:80342419-80342420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568247025	chr16:80342424-80342425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181179386	chr16:80342445-80342446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143100577	chr16:80342488-80342489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58938003	chr16:80342490-80342491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185968498	chr16:80342493-80342494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570186004	chr16:80342494-80342495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369632334	chr16:80342507-80342508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539651540	chr16:80342514-80342515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557875336	chr16:80342522-80342523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572943328	chr16:80342530-80342531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545500317	chr16:80342553-80342554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148215985	chr16:80342585-80342586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373171103	chr16:80342587-80342588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190878811	chr16:80342592-80342593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573573917	chr16:80342596-80342597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
early-passage human iPS cells	21368824	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:530 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80339600-80341800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr16:80340800-80341800	Enhancers	Fetal Muscle Leg	muscle
3	chr16:80341200-80345400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr16:80341600-80345200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr16:80346600-80347400	Enhancers	Brain Anterior Caudate	brain
6	chr16:80350200-80352200	Enhancers	Fetal Lung	lung
7	chr16:80350400-80351600	Enhancers	Fetal Stomach	stomach
8	chr16:80351000-80351400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:80351000-80352000	Enhancers	Primary hematopoietic stem cells	blood
10	chr16:80351200-80351400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr16:80351200-80352000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:80351200-80352000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:80351400-80351600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr16:80351400-80351800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr16:80351400-80351800	Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr16:80351400-80352000	Enhancers	Lung	lung
17	chr16:80351400-80352200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:80351600-80351800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr16:80351800-80352400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr16:80351800-80357200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:80355400-80355800	Weak transcription	NH-A	brain
22	chr16:80356800-80357200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
23	chr16:80356800-80358400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:80356800-80358800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr16:80356800-80360000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:80357000-80358400	Enhancers	Brain Germinal Matrix	brain
27	chr16:80357200-80357600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:80357200-80357800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr16:80357200-80358000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr16:80357200-80358600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr16:80357200-80358800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr16:80357200-80359000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:80357400-80357600	Enhancers	NH-A	brain
34	chr16:80357400-80357800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:80357400-80357800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:80357400-80358400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr16:80357400-80358600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:80357600-80358400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr16:80357600-80358800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr16:80357800-80360800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:80358000-80358600	Enhancers	Fetal Brain Female	brain
42	chr16:80358200-80359000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr16:80359600-80359800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:80360800-80361600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr16:80362600-80363000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:80363200-80363400	Enhancers	Aorta	Aorta
47	chr16:80364200-80365400	Enhancers	Fetal Intestine Small	intestine
48	chr16:80364400-80365200	Enhancers	Fetal Intestine Large	intestine
49	chr16:80364600-80365000	Enhancers	Liver	Liver
50	chr16:80364600-80365400	Enhancers	Duodenum Mucosa	Duodenum

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