Variant report

Variant	nsv1055556
Chromosome Location	chr16:80937443-80954876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52970973..52971687-chr16:80951115..80952002,2	MCF-7	breast:
2	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
3	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
4	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
5	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
6	chr16:80934136..80935962-chr16:80936388..80938023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	chromatin interactions

Extended variants
information (count: 971 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:971 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492889	chr16:80937443-80937444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574594206	chr16:80937452-80937453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542673118	chr16:80937454-80937455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181878348	chr16:80937460-80937461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532673156	chr16:80937466-80937467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113761724	chr16:80937477-80937478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375608582	chr16:80937478-80937479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573188131	chr16:80937493-80937494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67556333	chr16:80937513-80937514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199800042	chr16:80937515-80937516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12918740	chr16:80937523-80937524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142433063	chr16:80937531-80937532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7187651	chr16:80937545-80937546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548213504	chr16:80937561-80937562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370340872	chr16:80937609-80937610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569731281	chr16:80937614-80937615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563250518	chr16:80937665-80937666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184689699	chr16:80937667-80937668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530469542	chr16:80937680-80937681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576727833	chr16:80937714-80937715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545419871	chr16:80937757-80937758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116274440	chr16:80937760-80937761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190131636	chr16:80937763-80937764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117306954	chr16:80937765-80937766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376079549	chr16:80937838-80937839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567387360	chr16:80937846-80937847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79220826	chr16:80937847-80937848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372306270	chr16:80937878-80937879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117250168	chr16:80937884-80937885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558882565	chr16:80937896-80937897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78304730	chr16:80937922-80937923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541656818	chr16:80937927-80937928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368423156	chr16:80937933-80937934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151251000	chr16:80937946-80937947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575235550	chr16:80937964-80937965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79460804	chr16:80937991-80937992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181753277	chr16:80938038-80938039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367942137	chr16:80938050-80938051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72811846	chr16:80938059-80938060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11150327	chr16:80938066-80938067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs113445152	chr16:80938098-80938099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376582357	chr16:80938099-80938100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200652946	chr16:80938107-80938108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576966313	chr16:80938108-80938109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546027857	chr16:80938121-80938122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373273375	chr16:80938137-80938138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181118642	chr16:80938156-80938157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111521323	chr16:80938157-80938158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567980653	chr16:80938170-80938171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139835207	chr16:80938188-80938189	Weak transcription Enhancers	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
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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80934400-80938800	Weak transcription	Spleen	Spleen
2	chr16:80935000-80937600	Weak transcription	Gastric	stomach
3	chr16:80935000-80938200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:80935000-80948400	Weak transcription	Stomach Mucosa	stomach
5	chr16:80935600-80943400	Weak transcription	Hela-S3	cervix
6	chr16:80935800-80937800	Enhancers	Duodenum Mucosa	Duodenum
7	chr16:80936000-80937800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:80936400-80938000	Enhancers	Pancreas	Pancrea
9	chr16:80937200-80939200	Enhancers	HepG2	liver
10	chr16:80937600-80937800	Enhancers	Gastric	stomach
11	chr16:80937800-80940800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:80937800-80943200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:80939200-80940600	Weak transcription	HepG2	liver
14	chr16:80940600-80942000	Enhancers	HepG2	liver
15	chr16:80940800-80941200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:80941200-80943800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr16:80942000-80943600	Weak transcription	HepG2	liver
18	chr16:80943200-80944400	Enhancers	Fetal Intestine Large	intestine
19	chr16:80943200-80944600	Enhancers	Adipose Nuclei	Adipose
20	chr16:80943200-80944600	Enhancers	Fetal Intestine Small	intestine
21	chr16:80943200-80945000	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:80943400-80944800	Enhancers	Hela-S3	cervix
23	chr16:80943600-80944000	Enhancers	HepG2	liver
24	chr16:80943600-80944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:80943800-80944200	Enhancers	Small Intestine	intestine
26	chr16:80943800-80944800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:80944000-80944600	Flanking Active TSS	HepG2	liver
28	chr16:80944200-80944800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr16:80944400-80944800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr16:80944600-80945200	Enhancers	HepG2	liver
31	chr16:80944800-80945800	Weak transcription	Hela-S3	cervix
32	chr16:80945000-80946000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:80945200-80945600	Weak transcription	HepG2	liver
34	chr16:80945600-80947200	Enhancers	HepG2	liver
35	chr16:80945800-80946400	Enhancers	Hela-S3	cervix
36	chr16:80946000-80947000	Enhancers	Duodenum Mucosa	Duodenum
37	chr16:80946400-80946600	Flanking Active TSS	Hela-S3	cervix
38	chr16:80946600-80946800	Enhancers	Hela-S3	cervix
39	chr16:80946800-80947000	Flanking Active TSS	Hela-S3	cervix
40	chr16:80946800-80947200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr16:80947000-80947400	Enhancers	Hela-S3	cervix
42	chr16:80947200-80947600	ZNF genes & repeats	HepG2	liver
43	chr16:80947600-80948200	Enhancers	HepG2	liver
44	chr16:80948000-80950400	Enhancers	Hela-S3	cervix
45	chr16:80948200-80949000	Flanking Active TSS	HepG2	liver
46	chr16:80948200-80950000	Enhancers	Fetal Intestine Small	intestine
47	chr16:80948400-80949800	Enhancers	Stomach Mucosa	stomach
48	chr16:80948600-80949800	Enhancers	Fetal Intestine Large	intestine
49	chr16:80948600-80950000	Enhancers	Duodenum Mucosa	Duodenum
50	chr16:80948800-80949200	Enhancers	Sigmoid Colon	Sigmoid Colon

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