Variant report

Variant	esv3693218
Chromosome Location	chr16:16071849-16077360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:15980818..15983670-chr16:16070289..16073901,4	MCF-7	breast:
2	chr16:16076278..16078600-chr16:16079503..16083700,3	K562	blood:
3	chr16:16077012..16078676-chr16:16080796..16082413,2	K562	blood:
4	chr16:16073203..16074907-chr16:16089423..16092055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133393	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7195962	chr16:16071849-16071850	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532969167	chr16:16071902-16071903	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575638778	chr16:16071905-16071906	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551135217	chr16:16071912-16071913	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs45495296	chr16:16072010-16072011	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527816699	chr16:16072071-16072072	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs215050	chr16:16072128-16072129	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13333810	chr16:16072142-16072143	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186558568	chr16:16072148-16072149	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs556906386	chr16:16072183-16072184	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs189678491	chr16:16072191-16072192	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539255988	chr16:16072198-16072199	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111918364	chr16:16072224-16072225	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538963273	chr16:16072227-16072228	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182377870	chr16:16072252-16072253	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187050425	chr16:16072293-16072294	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572581609	chr16:16072294-16072295	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539994111	chr16:16072398-16072399	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555436615	chr16:16072399-16072400	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138184433	chr16:16072410-16072411	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs143467215	chr16:16072423-16072424	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575929351	chr16:16072577-16072578	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557622667	chr16:16072601-16072602	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577565046	chr16:16072602-16072603	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560129202	chr16:16072650-16072651	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540019175	chr16:16072676-16072677	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527480844	chr16:16072681-16072682	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557586752	chr16:16072720-16072721	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549214800	chr16:16072737-16072738	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115920555	chr16:16072747-16072748	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531755443	chr16:16072757-16072758	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550169180	chr16:16072773-16072774	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190194935	chr16:16072816-16072817	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539373165	chr16:16072827-16072828	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs45543442	chr16:16072831-16072832	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28431874	chr16:16072875-16072876	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565505278	chr16:16072878-16072879	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs45508193	chr16:16072891-16072892	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183125704	chr16:16072907-16072908	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs573366452	chr16:16072945-16072946	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs542309133	chr16:16072974-16072975	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537527450	chr16:16073075-16073076	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs45583036	chr16:16073076-16073077	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs45583738	chr16:16073079-16073080	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs8062912	chr16:16073080-16073081	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs45577331	chr16:16073096-16073097	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572158638	chr16:16073108-16073109	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs45562937	chr16:16073118-16073119	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs373395450	chr16:16073167-16073168	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201141890	chr16:16073169-16073170	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Thoracic aortic aneurysm	21698135	CNVD
Neurodevelopmental Syndrome	22523559	CNVD
Myelofibrosis	22110671	CNVD
Behavioral abnormalities	21150890	CNVD
Cognitive impairment	21150890	CNVD
Congenital heart defects	21150890	CNVD
Craniosynostosis	21150890	CNVD
polydactyly	21150890	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Gastric adenocarcinoma	19115996	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
fetus with increased nuchal translucency	19018765	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
renal disease	17924346	CNVD
Epilepsy	20923578	CNVD
Neurocognitive	19506092	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Epilepsy	22083797	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	20858243	CNVD
Obesity	20622171	CNVD
Breast cancer	17142309	CNVD
Asthma	20841430	CNVD
Epilepsy	21635232	CNVD
Autism	20531469	CNVD
Schizophrenia	19197363	CNVD
Schizophrenia	20388499	CNVD
Epilepsy	20502679	CNVD
Neuroendocrine carcinoma	21139019	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	20967226	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:16049800-16082400	Weak transcription	Pancreas	Pancrea
2	chr16:16058800-16075200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr16:16061200-16072600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:16062000-16072000	Weak transcription	HMEC	breast
5	chr16:16063600-16072800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:16066400-16075000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:16066600-16072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:16066600-16072600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:16066600-16073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:16066600-16075200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:16066800-16072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:16066800-16072000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr16:16067000-16072000	Weak transcription	Fetal Intestine Small	intestine
14	chr16:16067200-16072200	Enhancers	Right Ventricle	heart
15	chr16:16068000-16072400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr16:16068000-16073400	Weak transcription	Colonic Mucosa	Colon
17	chr16:16068400-16077000	Weak transcription	Gastric	stomach
18	chr16:16068400-16077200	Weak transcription	Stomach Mucosa	stomach
19	chr16:16070000-16072000	Enhancers	Adipose Nuclei	Adipose
20	chr16:16070000-16074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:16070200-16072000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:16070200-16072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:16070200-16075800	ZNF genes & repeats	Dnd41	blood
24	chr16:16070400-16072400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:16070400-16077200	ZNF genes & repeats	GM12878-XiMat	blood
26	chr16:16070600-16072200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:16070600-16072400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:16070800-16072200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr16:16070800-16072600	ZNF genes & repeats	Fetal Thymus	thymus
30	chr16:16070800-16072600	Weak transcription	HSMM	muscle
31	chr16:16070800-16072800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:16070800-16074800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:16070800-16077400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr16:16071000-16072000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:16071000-16072000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:16071000-16072000	Weak transcription	Fetal Lung	lung
37	chr16:16071000-16072200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:16071000-16072800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:16071000-16072800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:16071000-16074200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr16:16071000-16074600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:16071000-16075200	Weak transcription	Esophagus	oesophagus
43	chr16:16071000-16077000	Weak transcription	Psoas Muscle	Psoas
44	chr16:16071200-16072000	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr16:16071200-16072200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr16:16071200-16073000	ZNF genes & repeats	Fetal Stomach	stomach
47	chr16:16071200-16076400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr16:16071200-16076400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:16071200-16076400	ZNF genes & repeats	A549	lung
50	chr16:16071200-16077200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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