Variant report

Variant	nsv573304
Chromosome Location	chr16:80955393-80989859
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
2	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
3	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
4	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
5	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
6	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
7	chr16:80958448..80959493-chr16:81068829..81069710,4	MCF-7	breast:
8	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
9	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
10	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
11	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
12	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
13	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
14	chr16:80957863..80959236-chr16:81068742..81069783,11	MCF-7	breast:
15	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
16	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
17	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
18	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
19	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
20	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
21	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
22	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
23	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
24	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
25	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
26	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
27	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
28	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
29	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
30	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
31	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
32	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
33	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
34	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
35	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
36	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
37	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:
38	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
39	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
40	chr16:80957573..80958407-chr16:81248225..81248964,2	MCF-7	breast:
41	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
42	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166451	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000221944	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 1850 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1850 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16954298	chr16:80955393-80955394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75094978	chr16:80955419-80955420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539509239	chr16:80955428-80955429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557847192	chr16:80955433-80955434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369495737	chr16:80955437-80955438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555037530	chr16:80955450-80955451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116843870	chr16:80955456-80955457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193217845	chr16:80955472-80955473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139556176	chr16:80955489-80955490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576378463	chr16:80955490-80955491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149982077	chr16:80955520-80955521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145145310	chr16:80955544-80955545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149166978	chr16:80955554-80955555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12918862	chr16:80955557-80955558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371202551	chr16:80955559-80955560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545087965	chr16:80955579-80955580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376295017	chr16:80955592-80955593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143271249	chr16:80955594-80955595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147620659	chr16:80955633-80955634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12920127	chr16:80955689-80955690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567548836	chr16:80955694-80955695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531460165	chr16:80955709-80955710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572816010	chr16:80955717-80955718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146229134	chr16:80955726-80955727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138919296	chr16:80955727-80955728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539472639	chr16:80955754-80955755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114106641	chr16:80955786-80955787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141176090	chr16:80955789-80955790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73580798	chr16:80955875-80955876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34669048	chr16:80955912-80955913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555584374	chr16:80955915-80955916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150298437	chr16:80955918-80955919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111452890	chr16:80955921-80955922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137865033	chr16:80955948-80955949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149488586	chr16:80956034-80956035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545049711	chr16:80956042-80956043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560274033	chr16:80956043-80956044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572210750	chr16:80956053-80956054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542747535	chr16:80956055-80956056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560878864	chr16:80956071-80956072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140145641	chr16:80956072-80956073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549780672	chr16:80956081-80956082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565214623	chr16:80956181-80956182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572637223	chr16:80956185-80956186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533142265	chr16:80956190-80956191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572975855	chr16:80956197-80956198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540192884	chr16:80956200-80956201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566624419	chr16:80956206-80956207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533981369	chr16:80956214-80956215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549462640	chr16:80956217-80956218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80952600-80957000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:80953400-80965600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:80957000-80957200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:80957200-80965600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:80957800-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:80958000-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:80958000-80959000	Enhancers	Hela-S3	cervix
8	chr16:80958200-80958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:80958200-80958600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr16:80958200-80958800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr16:80958200-80958800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:80958200-80958800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr16:80958200-80958800	Enhancers	HepG2	liver
14	chr16:80958400-80958600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr16:80958400-80958800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:80958400-80958800	Enhancers	Brain Hippocampus Middle	brain
17	chr16:80958400-80961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:80958600-80958800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:80958600-80958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:80958800-80965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:80959000-80963000	Weak transcription	Hela-S3	cervix
22	chr16:80961200-80961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:80961200-80965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:80961400-80964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr16:80961600-80962200	Enhancers	Esophagus	oesophagus
26	chr16:80962200-80965600	Weak transcription	HepG2	liver
27	chr16:80962200-80965800	Weak transcription	Esophagus	oesophagus
28	chr16:80963000-80963400	ZNF genes & repeats	Hela-S3	cervix
29	chr16:80963400-80963800	Weak transcription	Hela-S3	cervix
30	chr16:80963800-80964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr16:80963800-80964400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr16:80963800-80964600	Enhancers	Hela-S3	cervix
33	chr16:80964200-80964400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr16:80964200-80964400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr16:80964400-80964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:80964400-80965600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr16:80964600-80965000	Flanking Active TSS	Hela-S3	cervix
38	chr16:80964800-80965000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr16:80964800-80965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:80964800-80965000	Enhancers	Colon Smooth Muscle	Colon
41	chr16:80964800-80965400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:80964800-80965400	Enhancers	HUVEC	blood vessel
43	chr16:80965000-80965600	Weak transcription	Colon Smooth Muscle	Colon
44	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
45	chr16:80965400-80965600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr16:80965400-80965600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr16:80965400-80965600	Enhancers	Adipose Nuclei	Adipose
48	chr16:80965400-80965600	Enhancers	Liver	Liver
49	chr16:80965400-80965600	Enhancers	Brain Angular Gyrus	brain
50	chr16:80965400-80965600	Enhancers	Fetal Brain Male	brain

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