Variant report

Variant	nsv573380
Chromosome Location	chr16:82770272-82781423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:
2	chr16:82771591..82773606-chr16:82773856..82775987,2	MCF-7	breast:

Extended variants
information (count: 627 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16958392	chr16:82770272-82770273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532560443	chr16:82770285-82770286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541521309	chr16:82770322-82770323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181069121	chr16:82770324-82770325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141155985	chr16:82770332-82770333	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548588967	chr16:82770361-82770362	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569994963	chr16:82770367-82770368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs118005336	chr16:82770376-82770377	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544229711	chr16:82770400-82770401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs552128253	chr16:82770411-82770412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs58802572	chr16:82770415-82770416	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562882556	chr16:82770460-82770461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs367966964	chr16:82770462-82770463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534471561	chr16:82770467-82770468	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566865904	chr16:82770474-82770475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs75483570	chr16:82770533-82770534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs370222805	chr16:82770544-82770545	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535112124	chr16:82770545-82770546	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs186310716	chr16:82770562-82770563	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs16958397	chr16:82770571-82770572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62034477	chr16:82770576-82770577	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560235925	chr16:82770578-82770579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558941090	chr16:82770602-82770603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577393059	chr16:82770607-82770608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372588772	chr16:82770625-82770626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11861682	chr16:82770646-82770647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7195690	chr16:82770656-82770657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs574965519	chr16:82770713-82770714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542291078	chr16:82770727-82770728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191550525	chr16:82770733-82770734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530886100	chr16:82770736-82770737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183328195	chr16:82770768-82770769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10514562	chr16:82770786-82770787	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs528304207	chr16:82770841-82770842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185983971	chr16:82770890-82770891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72803997	chr16:82770895-82770896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535172057	chr16:82770913-82770914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74649072	chr16:82770916-82770917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568518728	chr16:82770925-82770926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143437624	chr16:82770958-82770959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559221326	chr16:82771011-82771012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151122416	chr16:82771023-82771024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535250485	chr16:82771028-82771029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10514561	chr16:82771051-82771052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150248046	chr16:82771055-82771056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10514560	chr16:82771075-82771076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74030806	chr16:82771078-82771079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569073632	chr16:82771087-82771088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575730295	chr16:82771088-82771089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183245335	chr16:82771100-82771101	Weak transcription Enhancers	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
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Alveolar capillary dysplasia	19500772	CNVD
VACTERL syndrome	21315191	CNVD
T-cell lymphomas	19863542	CNVD
Developmental delay	19490664	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82750200-82780600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr16:82762000-82773800	Weak transcription	NHEK	skin
3	chr16:82766600-82770600	Enhancers	Aorta	Aorta
4	chr16:82766600-82770600	Enhancers	Left Ventricle	heart
5	chr16:82766800-82788600	Weak transcription	HMEC	breast
6	chr16:82767400-82770800	Enhancers	Fetal Brain Male	brain
7	chr16:82767600-82771000	Enhancers	Fetal Muscle Leg	muscle
8	chr16:82767800-82771000	Enhancers	Fetal Stomach	stomach
9	chr16:82768000-82771200	Enhancers	Brain Germinal Matrix	brain
10	chr16:82768200-82771000	Enhancers	HSMMtube	muscle
11	chr16:82768400-82771000	Enhancers	Colon Smooth Muscle	Colon
12	chr16:82768600-82770400	Weak transcription	Psoas Muscle	Psoas
13	chr16:82768600-82770800	Enhancers	Rectal Smooth Muscle	rectum
14	chr16:82768600-82773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:82768600-82775800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr16:82768600-82784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr16:82768800-82770600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr16:82768800-82770600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr16:82769000-82770600	Enhancers	Primary B cells from peripheral blood	blood
20	chr16:82769200-82785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:82769800-82772000	Enhancers	Fetal Heart	heart
22	chr16:82769800-82774000	Weak transcription	HSMM	muscle
23	chr16:82770000-82770600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:82770000-82770600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr16:82770000-82772000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:82770000-82774800	Weak transcription	Osteobl	bone
27	chr16:82770000-82782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:82770200-82770400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:82770200-82772400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr16:82770400-82772200	Enhancers	Psoas Muscle	Psoas
31	chr16:82770600-82770800	Enhancers	Stomach Smooth Muscle	stomach
32	chr16:82770600-82774000	Weak transcription	Aorta	Aorta
33	chr16:82770600-82774600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:82770600-82778200	Weak transcription	Left Ventricle	heart
35	chr16:82771000-82772000	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:82771000-82781000	Weak transcription	HSMMtube	muscle
37	chr16:82771000-82781400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr16:82772000-82772200	Enhancers	Fetal Muscle Leg	muscle
39	chr16:82772000-82772400	Flanking Active TSS	Fetal Heart	heart
40	chr16:82772000-82772400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr16:82772200-82778000	Weak transcription	Psoas Muscle	Psoas
42	chr16:82772400-82772600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr16:82772400-82772800	Enhancers	Fetal Heart	heart
44	chr16:82772400-82781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr16:82772600-82778000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:82773400-82774400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:82773800-82774600	Strong transcription	NHEK	skin
48	chr16:82774000-82774200	ZNF genes & repeats	Aorta	Aorta
49	chr16:82774000-82775000	Strong transcription	HSMM	muscle
50	chr16:82774200-82781400	Weak transcription	Aorta	Aorta

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