Variant report

Variant	esv3332560
Chromosome Location	chr16:81455701-81457649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81450805..81453422-chr16:81457047..81459629,2	MCF-7	breast:
2	chr16:81456230..81458519-chr16:81478513..81480635,2	K562	blood:
3	chr16:81457019..81459351-chr16:81477437..81480635,4	K562	blood:

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143890925	chr16:81455704-81455705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577316368	chr16:81455717-81455718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541721151	chr16:81455737-81455738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534159411	chr16:81455738-81455739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200078234	chr16:81455760-81455761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536838867	chr16:81455786-81455787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34984695	chr16:81455801-81455802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560107331	chr16:81455803-81455804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11865413	chr16:81455819-81455820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs576855039	chr16:81455837-81455838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573136516	chr16:81455871-81455872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184004680	chr16:81455885-81455886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563394482	chr16:81455913-81455914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530561402	chr16:81455921-81455922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs386792932	chr16:81455923-81455924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2615711	chr16:81455928-81455929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528097862	chr16:81456045-81456046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188448223	chr16:81456053-81456054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143945590	chr16:81456070-81456071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535614370	chr16:81456073-81456074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146835023	chr16:81456112-81456113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371265623	chr16:81456143-81456144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570122903	chr16:81456148-81456149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9927898	chr16:81456172-81456173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559118458	chr16:81456173-81456174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577277582	chr16:81456204-81456205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375883988	chr16:81456250-81456251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541437360	chr16:81456254-81456255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535055666	chr16:81456282-81456283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs553682599	chr16:81456314-81456315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34724040	chr16:81456351-81456352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575336884	chr16:81456353-81456354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs180911196	chr16:81456407-81456408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563692030	chr16:81456408-81456409	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149525573	chr16:81456410-81456411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373629496	chr16:81456411-81456412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144256046	chr16:81456416-81456417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs57505104	chr16:81456426-81456427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112362028	chr16:81456443-81456444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561405358	chr16:81456444-81456445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs9932388	chr16:81456464-81456465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563852429	chr16:81456471-81456472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539178895	chr16:81456472-81456473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs112906957	chr16:81456481-81456482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs185026668	chr16:81456501-81456502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs62043898	chr16:81456525-81456526	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs62043899	chr16:81456526-81456527	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11648860	chr16:81456546-81456547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373252270	chr16:81456552-81456553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71400156	chr16:81456564-81456565	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81453000-81462800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:81455400-81455800	Enhancers	Placenta	Placenta
3	chr16:81455400-81457800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:81455400-81458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:81455600-81465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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