Variant report

Variant	esv14866
Chromosome Location	chr16:16071394-16077378
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	chr16:16068744..16071431-chr16:16114284..16115866,2	MCF-7	breast:
4	chr16:16073203..16074907-chr16:16089423..16092055,2	MCF-7	breast:
5	chr16:16077012..16078676-chr16:16080796..16082413,2	K562	blood:

Variant related genes	Relation type
ENSG00000133393	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573963659	chr16:16071466-16071467	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538200787	chr16:16071485-16071486	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141299910	chr16:16071538-16071539	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191693045	chr16:16071554-16071555	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs45553040	chr16:16071591-16071592	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74011345	chr16:16071640-16071641	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs45623133	chr16:16071687-16071688	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540299539	chr16:16071711-16071712	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs45475695	chr16:16071733-16071734	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs535544248	chr16:16071763-16071764	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146336802	chr16:16071779-16071780	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373977798	chr16:16071787-16071788	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182372870	chr16:16071791-16071792	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528871791	chr16:16071807-16071808	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544146153	chr16:16071848-16071849	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	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
17	rs532969167	chr16:16071902-16071903	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575638778	chr16:16071905-16071906	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551135217	chr16:16071912-16071913	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs45495296	chr16:16072010-16072011	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527816699	chr16:16072071-16072072	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	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
23	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
24	rs186558568	chr16:16072148-16072149	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556906386	chr16:16072183-16072184	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189678491	chr16:16072191-16072192	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539255988	chr16:16072198-16072199	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111918364	chr16:16072224-16072225	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538963273	chr16:16072227-16072228	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs182377870	chr16:16072252-16072253	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs187050425	chr16:16072293-16072294	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572581609	chr16:16072294-16072295	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539994111	chr16:16072398-16072399	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555436615	chr16:16072399-16072400	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138184433	chr16:16072410-16072411	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143467215	chr16:16072423-16072424	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575929351	chr16:16072577-16072578	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557622667	chr16:16072601-16072602	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577565046	chr16:16072602-16072603	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560129202	chr16:16072650-16072651	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540019175	chr16:16072676-16072677	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527480844	chr16:16072681-16072682	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557586752	chr16:16072720-16072721	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549214800	chr16:16072737-16072738	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115920555	chr16:16072747-16072748	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531755443	chr16:16072757-16072758	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550169180	chr16:16072773-16072774	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190194935	chr16:16072816-16072817	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539373165	chr16:16072827-16072828	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs45543442	chr16:16072831-16072832	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:361 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr16:16063800-16071400	Weak transcription	Fetal Kidney	kidney
7	chr16:16065800-16071600	Enhancers	Colon Smooth Muscle	Colon
8	chr16:16066400-16075000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:16066600-16071400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:16066600-16071400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:16066600-16071400	Weak transcription	Primary B cells from cord blood	blood
12	chr16:16066600-16071400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr16:16066600-16071400	Weak transcription	HepG2	liver
14	chr16:16066600-16071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:16066600-16072600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr16:16066600-16072600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:16066600-16073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr16:16066600-16075200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:16066800-16071600	Weak transcription	HUVEC	blood vessel
20	chr16:16066800-16072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:16066800-16072000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr16:16067000-16072000	Weak transcription	Fetal Intestine Small	intestine
23	chr16:16067200-16071600	Enhancers	Left Ventricle	heart
24	chr16:16067200-16072200	Enhancers	Right Ventricle	heart
25	chr16:16067400-16071600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr16:16068000-16071400	Strong transcription	Thymus	Thymus
27	chr16:16068000-16072400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:16068000-16073400	Weak transcription	Colonic Mucosa	Colon
29	chr16:16068400-16077000	Weak transcription	Gastric	stomach
30	chr16:16068400-16077200	Weak transcription	Stomach Mucosa	stomach
31	chr16:16068800-16071400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:16069000-16071400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:16069800-16071600	Enhancers	Rectal Smooth Muscle	rectum
34	chr16:16069800-16071600	Enhancers	Right Atrium	heart
35	chr16:16070000-16071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:16070000-16071600	Enhancers	Small Intestine	intestine
37	chr16:16070000-16072000	Enhancers	Adipose Nuclei	Adipose
38	chr16:16070000-16074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr16:16070200-16071400	Strong transcription	K562	blood
40	chr16:16070200-16071400	Enhancers	NHLF	lung
41	chr16:16070200-16071600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr16:16070200-16071600	Enhancers	Fetal Muscle Leg	muscle
43	chr16:16070200-16071600	Enhancers	Lung	lung
44	chr16:16070200-16071600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr16:16070200-16071600	Strong transcription	NHEK	skin
46	chr16:16070200-16072000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr16:16070200-16072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr16:16070200-16075800	ZNF genes & repeats	Dnd41	blood
49	chr16:16070400-16071600	Enhancers	Aorta	Aorta
50	chr16:16070400-16071600	Enhancers	Ovary	ovary

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