Variant report

Variant	nsv1063466
Chromosome Location	chr16:80227628-80360463
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:40)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
2	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
3	chr16:80249230..80251381-chr16:80283916..80285738,2	MCF-7	breast:
4	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
5	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
6	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
7	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
8	chr16:80305510..80307730-chr16:80315261..80317218,2	MCF-7	breast:
9	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
10	chr16:80249230..80251381-chr16:80283916..80285738,2	MCF-7	breast:
11	chr16:80236581..80241287-chr16:80241834..80245112,5	K562	blood:
12	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:
13	chr10:79239960..79240960-chr16:80314989..80315547,2	MCF-7	breast:
14	chr16:80242845..80245551-chr16:80246553..80248755,2	K562	blood:
15	chr16:80222346..80224215-chr16:80228105..80230290,2	MCF-7	breast:
16	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
17	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
18	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
19	chr16:80217075..80218900-chr16:80231657..80233649,2	MCF-7	breast:
20	chr16:80236581..80241287-chr16:80241834..80245112,5	K562	blood:
21	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
22	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
23	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
24	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
25	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
26	chr16:80292827..80294990-chr16:80297157..80298888,2	K562	blood:
27	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
28	chr16:80305422..80307127-chr16:80308653..80310686,2	K562	blood:
29	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
30	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
31	chr16:80264628..80267560-chr16:80268812..80271604,2	K562	blood:
32	chr16:80242845..80245551-chr16:80246553..80248755,2	K562	blood:
33	chr16:80310620..80311639-chr16:80499983..80500837,3	MCF-7	breast:
34	chr16:80205800..80207401-chr16:80243616..80246566,2	MCF-7	breast:
35	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
36	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
37	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
38	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
39	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
40	chr16:80311039..80311733-chr16:80500002..80500951,2	K562	blood:

(count:5 , 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	chr16:80331572-80331684	ucscGeneNc_uc002fgs_2
3	lnc-CDYL2-6	chr16:80251932-80252112	ENSG00000259867.1
4	lnc-DYNLRB2-5	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2
5	lnc-CDYL2-6	chr16:80252706-80252763	ENSG00000259867.1

No data

Extended variants
information (count: 6694 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:6694 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7499082	chr16:80227628-80227629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183794453	chr16:80227633-80227634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576034897	chr16:80227649-80227650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543538932	chr16:80227692-80227693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189368893	chr16:80227730-80227731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576936983	chr16:80227733-80227734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541704670	chr16:80227743-80227744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560078341	chr16:80227769-80227770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530471904	chr16:80227770-80227771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201158107	chr16:80227788-80227789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71143618	chr16:80227815-80227816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550540400	chr16:80227878-80227879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542036410	chr16:80227881-80227882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4444354	chr16:80227886-80227887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563938910	chr16:80227947-80227948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182251285	chr16:80227952-80227953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199892322	chr16:80228063-80228064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552660524	chr16:80228086-80228087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564090492	chr16:80228123-80228124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528478191	chr16:80228136-80228137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187240576	chr16:80228139-80228140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190070106	chr16:80228154-80228155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539566838	chr16:80228216-80228217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113003410	chr16:80228311-80228312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536580094	chr16:80228313-80228314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548065791	chr16:80228328-80228329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553392632	chr16:80228397-80228398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569849145	chr16:80228442-80228443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146057852	chr16:80228479-80228480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78423887	chr16:80228481-80228482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577051024	chr16:80228506-80228507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572958512	chr16:80228508-80228509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140095149	chr16:80228514-80228515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535637490	chr16:80228518-80228519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553032171	chr16:80228533-80228534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78413211	chr16:80228545-80228546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143670962	chr16:80228588-80228589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547745376	chr16:80228617-80228618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575585587	chr16:80228638-80228639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181607827	chr16:80228672-80228673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73573900	chr16:80228680-80228681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79982523	chr16:80228684-80228685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534087872	chr16:80228698-80228699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528611964	chr16:80228716-80228717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546570210	chr16:80228723-80228724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562149663	chr16:80228737-80228738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149089769	chr16:80228749-80228750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548486930	chr16:80228754-80228755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111692078	chr16:80228764-80228765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537239474	chr16:80228778-80228779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:552 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80210400-80231400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:80223400-80232200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:80224200-80231400	Weak transcription	A549	lung
4	chr16:80226200-80228000	Weak transcription	Fetal Stomach	stomach
5	chr16:80227600-80228600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80228600-80229400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:80229400-80231600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:80229800-80231600	Weak transcription	Fetal Stomach	stomach
9	chr16:80230400-80231000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:80231000-80231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:80231400-80231600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:80231400-80231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:80231400-80231600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr16:80231400-80231600	Enhancers	Hela-S3	cervix
15	chr16:80231400-80231600	Enhancers	HMEC	breast
16	chr16:80231400-80231600	Enhancers	NH-A	brain
17	chr16:80231400-80231600	Enhancers	NHEK	skin
18	chr16:80231400-80231600	Enhancers	NHLF	lung
19	chr16:80231400-80233000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:80231400-80233000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:80231400-80233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:80231400-80233200	Flanking Active TSS	A549	lung
23	chr16:80231400-80233200	Enhancers	HSMM	muscle
24	chr16:80231400-80233200	Enhancers	HUVEC	blood vessel
25	chr16:80231400-80233200	Enhancers	NHDF-Ad	bronchial
26	chr16:80231400-80233400	Enhancers	Osteobl	bone
27	chr16:80231400-80233600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr16:80231600-80231800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:80231600-80231800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:80231600-80231800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr16:80231600-80231800	Flanking Active TSS	HMEC	breast
32	chr16:80231600-80231800	Flanking Active TSS	NH-A	brain
33	chr16:80231600-80231800	Flanking Active TSS	NHEK	skin
34	chr16:80231600-80231800	Flanking Active TSS	NHLF	lung
35	chr16:80231600-80232000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:80231600-80232000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr16:80231600-80232000	Enhancers	Colon Smooth Muscle	Colon
38	chr16:80231600-80232000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr16:80231600-80232000	Enhancers	Fetal Muscle Leg	muscle
40	chr16:80231600-80232000	Flanking Active TSS	Hela-S3	cervix
41	chr16:80231600-80232400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:80231600-80232400	Enhancers	Fetal Stomach	stomach
43	chr16:80231600-80232400	Enhancers	HSMMtube	muscle
44	chr16:80231600-80232600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:80231600-80233000	Enhancers	Brain Germinal Matrix	brain
46	chr16:80231600-80233200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:80231600-80233200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:80231600-80233200	Enhancers	Fetal Lung	lung
49	chr16:80231600-80233200	Enhancers	HepG2	liver
50	chr16:80231800-80232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links