Variant report

Variant	esv11602
Chromosome Location	chr16:12674207-12693522
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	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:
2	chr16:12675875..12678223-chr16:12683631..12685864,2	MCF-7	breast:

Extended variants
information (count: 1886 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563305647	chr16:12674220-12674221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202092580	chr16:12674228-12674229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs57843957	chr16:12674229-12674230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142580576	chr16:12674239-12674240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542868390	chr16:12674248-12674249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553537535	chr16:12674253-12674254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528678864	chr16:12674254-12674255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183104673	chr16:12674258-12674259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371564799	chr16:12674263-12674264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186890449	chr16:12674290-12674291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530555506	chr16:12674294-12674295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73514051	chr16:12674297-12674298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567222793	chr16:12674311-12674312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536262419	chr16:12674315-12674316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62029209	chr16:12674319-12674320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369127358	chr16:12674324-12674325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189750476	chr16:12674326-12674327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs890898	chr16:12674329-12674330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs538802408	chr16:12674336-12674337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562482144	chr16:12674345-12674346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78449877	chr16:12674352-12674353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541159935	chr16:12674353-12674354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537123383	chr16:12674370-12674371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs755685	chr16:12674377-12674378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542879499	chr16:12674384-12674385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573661335	chr16:12674388-12674389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544089986	chr16:12674391-12674392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560983100	chr16:12674400-12674401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542655853	chr16:12674405-12674406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559617387	chr16:12674416-12674417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573487361	chr16:12674421-12674422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545569258	chr16:12674422-12674423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370013892	chr16:12674430-12674431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530004982	chr16:12674438-12674439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151293835	chr16:12674448-12674449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140574600	chr16:12674456-12674457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546448730	chr16:12674460-12674461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560308393	chr16:12674469-12674470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150480296	chr16:12674470-12674471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561005931	chr16:12674472-12674473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529709382	chr16:12674480-12674481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375811036	chr16:12674495-12674496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566754581	chr16:12674508-12674509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142316428	chr16:12674512-12674513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182054335	chr16:12674517-12674518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552464970	chr16:12674519-12674520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568914674	chr16:12674531-12674532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186644267	chr16:12674538-12674539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557028020	chr16:12674544-12674545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193143071	chr16:12674550-12674551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
2	chr16:12671000-12678400	Weak transcription	Gastric	stomach
3	chr16:12671200-12677600	Weak transcription	HepG2	liver
4	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12674400-12674600	Enhancers	Stomach Mucosa	stomach
7	chr16:12674400-12675400	Enhancers	GM12878-XiMat	blood
8	chr16:12674400-12675600	Enhancers	Primary B cells from peripheral blood	blood
9	chr16:12674600-12674800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:12674600-12677600	Weak transcription	Stomach Mucosa	stomach
11	chr16:12677600-12679000	Enhancers	Stomach Mucosa	stomach
12	chr16:12677600-12679800	Enhancers	HepG2	liver
13	chr16:12678000-12679000	Enhancers	K562	blood
14	chr16:12678400-12678600	Enhancers	Gastric	stomach
15	chr16:12678400-12678800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr16:12678400-12678800	Enhancers	Brain Hippocampus Middle	brain
17	chr16:12678400-12678800	Enhancers	Brain Substantia Nigra	brain
18	chr16:12678400-12679400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr16:12679000-12680200	Weak transcription	Stomach Mucosa	stomach
20	chr16:12679800-12680400	Enhancers	Fetal Brain Male	brain
21	chr16:12679800-12681000	Weak transcription	HepG2	liver
22	chr16:12680200-12680400	Enhancers	Stomach Mucosa	stomach
23	chr16:12681000-12681800	Enhancers	Brain Anterior Caudate	brain
24	chr16:12681000-12686400	Enhancers	HepG2	liver
25	chr16:12683400-12683600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:12683600-12685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:12683600-12685400	Enhancers	GM12878-XiMat	blood
28	chr16:12684600-12685600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr16:12684600-12686400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:12685000-12685600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr16:12685000-12685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr16:12685000-12686000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:12685000-12686600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr16:12685200-12685600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:12685200-12685600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr16:12685200-12685800	Enhancers	H9 Cell Line	embryonic stem cell
37	chr16:12685200-12685800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr16:12685200-12686000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr16:12685200-12686400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:12685200-12686600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr16:12685200-12686600	Enhancers	Fetal Thymus	thymus
42	chr16:12685400-12685600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr16:12685400-12686600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:12685600-12686000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr16:12685600-12686000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr16:12685600-12686000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:12685600-12686200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr16:12685600-12686400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:12685600-12686400	Enhancers	Primary T cells fromperipheralblood	blood
50	chr16:12685600-12686400	Enhancers	Thymus	Thymus

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