Variant report

Variant	esv2762333
Chromosome Location	chr16:80307755-80509983
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:81)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
2	chr16:80214585..80217507-chr16:80501983..80504669,2	K562	blood:
3	chr16:79801259..79803185-chr16:80498981..80501432,2	MCF-7	breast:
4	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
5	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
6	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
7	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
8	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
9	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
10	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
11	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
12	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
13	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
14	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
15	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
16	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
17	chr16:78958645..78959367-chr16:80500008..80500879,3	MCF-7	breast:
18	chr16:78537073..78538321-chr16:80500168..80500870,3	MCF-7	breast:
19	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
20	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
21	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
22	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
23	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
24	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
25	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
26	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
27	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:
28	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
29	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
30	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
31	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
32	chr16:80485440..80487678-chr16:80510230..80512857,2	MCF-7	breast:
33	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
34	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
35	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:
36	chr16:80495879..80497942-chr16:80499156..80500860,2	MCF-7	breast:
37	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
38	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
39	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
40	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
41	chr16:80496269..80498970-chr16:80500227..80504531,3	K562	blood:
42	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
43	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
44	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
45	chr16:79635755..79636630-chr16:80499976..80500798,3	MCF-7	breast:
46	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
47	chr16:80496396..80498221-chr16:80498278..80499939,2	MCF-7	breast:
48	chr16:80476917..80477759-chr16:80499915..80500481,2	MCF-7	breast:
49	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
50	chr16:80477484..80480232-chr16:80487404..80489866,2	K562	blood:

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

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

No data

Extended variants
information (count: 9550 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:9550 , 50 per page) page: 1 2 3 4 5 6 7 ... 191

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528140842	chr16:80307782-80307783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370148211	chr16:80307792-80307793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546298376	chr16:80307793-80307794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144179302	chr16:80307811-80307812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148684569	chr16:80307890-80307891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562544708	chr16:80307917-80307918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112960432	chr16:80307994-80307995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546028138	chr16:80308013-80308014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192660821	chr16:80308045-80308046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs80288361	chr16:80308073-80308074	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs184542196	chr16:80308078-80308079	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs558036588	chr16:80308082-80308083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189067145	chr16:80308154-80308155	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376574316	chr16:80308155-80308156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534240925	chr16:80308179-80308180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs192519225	chr16:80308218-80308219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147775515	chr16:80308256-80308257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs141078239	chr16:80308278-80308279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557197081	chr16:80308281-80308282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369863605	chr16:80308282-80308283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139766514	chr16:80308289-80308290	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35239734	chr16:80308294-80308295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575419579	chr16:80308316-80308317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184561503	chr16:80308321-80308322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564085178	chr16:80308323-80308324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78311909	chr16:80308355-80308356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539930845	chr16:80308377-80308378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73579655	chr16:80308385-80308386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150956272	chr16:80308401-80308402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs141066799	chr16:80308420-80308421	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562521019	chr16:80308427-80308428	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527768606	chr16:80308480-80308481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs533420251	chr16:80308483-80308484	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11646398	chr16:80308484-80308485	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150241653	chr16:80308489-80308490	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs534431572	chr16:80308491-80308492	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs59698893	chr16:80308499-80308500	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138963838	chr16:80308553-80308554	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74797082	chr16:80308554-80308555	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556249782	chr16:80308560-80308561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs535015952	chr16:80308573-80308574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577976814	chr16:80308574-80308575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539307791	chr16:80308603-80308604	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189299079	chr16:80308605-80308606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs80250517	chr16:80308624-80308625	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540067044	chr16:80308647-80308648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs566403431	chr16:80308652-80308653	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs536824642	chr16:80308675-80308676	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79086601	chr16:80308676-80308677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs544306627	chr16:80308684-80308685	Enhancers Weak transcription Flanking Active TSS	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:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80305400-80308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80306800-80308000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr16:80306800-80309600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr16:80306800-80310400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr16:80307000-80308200	Enhancers	NH-A	brain
6	chr16:80307000-80309000	Enhancers	HSMM	muscle
7	chr16:80307000-80309400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr16:80307000-80309600	Enhancers	HMEC	breast
9	chr16:80307000-80309600	Enhancers	Osteobl	bone
10	chr16:80307200-80309400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr16:80307200-80309400	Enhancers	NHEK	skin
12	chr16:80307400-80309400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr16:80307600-80308000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:80307600-80308600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:80307600-80309000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:80307600-80309000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:80307600-80309200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:80307600-80309200	Enhancers	HSMMtube	muscle
19	chr16:80307600-80309600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:80308000-80308400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:80308000-80309000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr16:80308200-80309000	Flanking Active TSS	NH-A	brain
23	chr16:80308200-80309000	Enhancers	NHDF-Ad	bronchial
24	chr16:80308400-80309600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:80308600-80308800	Enhancers	Fetal Muscle Leg	muscle
26	chr16:80308600-80309000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:80308600-80309000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr16:80308600-80309400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:80308800-80309000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:80308800-80309000	Enhancers	HepG2	liver
31	chr16:80309000-80309400	Enhancers	NH-A	brain
32	chr16:80309000-80310400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:80309000-80318200	Weak transcription	HSMM	muscle
34	chr16:80309200-80310200	Weak transcription	HepG2	liver
35	chr16:80309200-80313400	Weak transcription	HSMMtube	muscle
36	chr16:80309600-80310600	Weak transcription	Osteobl	bone
37	chr16:80309600-80316800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:80310400-80310600	Enhancers	HepG2	liver
39	chr16:80310600-80310800	Enhancers	Osteobl	bone
40	chr16:80310800-80313800	Weak transcription	Osteobl	bone
41	chr16:80311200-80311400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:80311800-80314600	Enhancers	Fetal Muscle Leg	muscle
43	chr16:80312200-80313400	Enhancers	Primary T cells from cord blood	blood
44	chr16:80313000-80313600	Enhancers	Fetal Thymus	thymus
45	chr16:80313400-80314400	Enhancers	HSMMtube	muscle
46	chr16:80314400-80318200	Weak transcription	HSMMtube	muscle
47	chr16:80316200-80317800	Weak transcription	Osteobl	bone
48	chr16:80316800-80319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:80316800-80319800	Enhancers	NHDF-Ad	bronchial
50	chr16:80316800-80320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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