Variant report

Variant	nsv517039
Chromosome Location	chr16:12667647-12673394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:12667518..12668062-chr16:12712002..12712507,2	MCF-7	breast:
2	chr16:12664367..12666728-chr16:12670658..12673027,2	K562	blood:
3	chr16:12667431..12668234-chr16:12930367..12931210,2	MCF-7	breast:
4	chr16:12667303..12668256-chr16:12994641..12995560,2	MCF-7	breast:
5	chr16:12667441..12668160-chr16:12908986..12909620,2	K562	blood:
6	chr16:12667378..12668264-chr16:12909027..12909976,6	MCF-7	breast:
7	chr16:12667239..12668915-chr16:12896290..12899009,2	MCF-7	breast:
8	chr16:12667311..12668307-chr16:12912660..12913925,10	K562	blood:
9	chr16:12548883..12549752-chr16:12667238..12668263,4	MCF-7	breast:
10	chr16:12667422..12668391-chr16:12912804..12913870,6	MCF-7	breast:
11	chr16:12666208..12667949-chr16:12909884..12912499,2	K562	blood:
12	chr16:12434411..12435246-chr16:12667446..12668002,2	MCF-7	breast:
13	chr16:12667763..12668530-chr16:12912908..12913815,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237515	chromatin interactions
ENSG00000103381	chromatin interactions

Extended variants
information (count: 785 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:785 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3169265	chr16:12667647-12667648	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535100363	chr16:12667650-12667651	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546856053	chr16:12667652-12667653	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557996557	chr16:12667665-12667666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201835537	chr16:12667691-12667692	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367713038	chr16:12667701-12667702	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538809419	chr16:12667704-12667705	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146596498	chr16:12667705-12667706	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs370712901	chr16:12667710-12667711	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568849304	chr16:12667713-12667714	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537989117	chr16:12667716-12667717	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs140961090	chr16:12667719-12667720	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574517760	chr16:12667726-12667727	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183498429	chr16:12667727-12667728	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs372383994	chr16:12667745-12667746	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554064328	chr16:12667751-12667752	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150216513	chr16:12667754-12667755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376099141	chr16:12667762-12667763	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs114844137	chr16:12667769-12667770	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs138813745	chr16:12667773-12667774	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187989271	chr16:12667787-12667788	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9452	chr16:12667789-12667790	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140316578	chr16:12667790-12667791	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530010061	chr16:12667799-12667800	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546590816	chr16:12667802-12667803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs193002881	chr16:12667804-12667805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145472350	chr16:12667812-12667813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182494434	chr16:12667815-12667816	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569459592	chr16:12667833-12667834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186772773	chr16:12667844-12667845	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548272121	chr16:12667854-12667855	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570196509	chr16:12667860-12667861	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7619	chr16:12667879-12667880	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191184959	chr16:12667881-12667882	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184769020	chr16:12667902-12667903	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138093059	chr16:12667904-12667905	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs1061008	chr16:12667908-12667909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556070144	chr16:12667910-12667911	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs572101419	chr16:12667921-12667922	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs576151672	chr16:12667923-12667924	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs142647472	chr16:12667932-12667933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs554598778	chr16:12667935-12667936	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs574601135	chr16:12667938-12667939	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs554608756	chr16:12667942-12667943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs7620	chr16:12667945-12667946	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs144171185	chr16:12667947-12667948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188908374	chr16:12667950-12667951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192913461	chr16:12667954-12667955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs148191616	chr16:12667965-12667966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs141156766	chr16:12667973-12667974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
5	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:12661400-12668200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:12663000-12669200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:12664000-12670600	Weak transcription	Gastric	stomach
11	chr16:12664200-12668200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:12664200-12669400	Weak transcription	Brain Substantia Nigra	brain
13	chr16:12664400-12668600	Weak transcription	Esophagus	oesophagus
14	chr16:12664600-12667800	Weak transcription	Primary T cells from cord blood	blood
15	chr16:12664600-12667800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr16:12664600-12668000	Weak transcription	Fetal Intestine Small	intestine
17	chr16:12664600-12668800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:12664600-12669200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:12665000-12667800	Weak transcription	HepG2	liver
21	chr16:12665000-12669200	Weak transcription	Aorta	Aorta
22	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
23	chr16:12665200-12669000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr16:12665400-12667800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr16:12665400-12668600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:12665600-12668800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr16:12665800-12668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:12666400-12668000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr16:12666400-12668200	Enhancers	Primary B cells from peripheral blood	blood
30	chr16:12666800-12668400	Enhancers	Primary B cells from cord blood	blood
31	chr16:12667000-12667800	Enhancers	Fetal Thymus	thymus
32	chr16:12667400-12667800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr16:12667400-12667800	Enhancers	Primary hematopoietic stem cells	blood
34	chr16:12667400-12667800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr16:12667400-12667800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr16:12667400-12667800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:12667400-12668000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr16:12667600-12667800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr16:12667600-12667800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr16:12667600-12667800	Enhancers	Brain Hippocampus Middle	brain
41	chr16:12667600-12667800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr16:12667600-12668800	Enhancers	GM12878-XiMat	blood
43	chr16:12667800-12668000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr16:12667800-12668400	Enhancers	A549	lung
45	chr16:12667800-12668600	Enhancers	HepG2	liver
46	chr16:12667800-12668600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr16:12667800-12670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:12668000-12668400	Enhancers	Fetal Intestine Small	intestine
49	chr16:12668000-12670600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr16:12668200-12668400	Enhancers	Duodenum Mucosa	Duodenum

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