Variant report

Variant	nsv980549
Chromosome Location	chr5:16728420-16731008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16729939..16731528-chr5:16732175..16733967,2	MCF-7	breast:
2	chr5:16710355..16712259-chr5:16729265..16730891,2	MCF-7	breast:
3	chr5:16728548..16730757-chr5:16733455..16736411,2	MCF-7	breast:
4	chr5:16727860..16733317-chr5:16734761..16739949,6	MCF-7	breast:
5	chr5:16723686..16725760-chr5:16727885..16730861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386685855	chr5:16728449-16728450	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6864209	chr5:16728450-16728451	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111639520	chr5:16728470-16728471	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs116259110	chr5:16728502-16728503	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550438660	chr5:16728548-16728549	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556331915	chr5:16728584-16728585	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574669935	chr5:16728623-16728624	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569618012	chr5:16728665-16728666	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374213358	chr5:16728715-16728716	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546097365	chr5:16728731-16728732	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs112419167	chr5:16728741-16728742	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182677228	chr5:16728794-16728795	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187012168	chr5:16728884-16728885	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146574486	chr5:16728903-16728904	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs540692040	chr5:16728904-16728905	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564193095	chr5:16728928-16728929	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs531335612	chr5:16728962-16728963	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs141015636	chr5:16728992-16728993	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202145348	chr5:16728994-16728995	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540915822	chr5:16729022-16729023	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372452260	chr5:16729028-16729029	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561568769	chr5:16729036-16729037	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368422744	chr5:16729107-16729108	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs4702169	chr5:16729131-16729132	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566843982	chr5:16729216-16729217	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534091012	chr5:16729233-16729234	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs150220354	chr5:16729262-16729263	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570899523	chr5:16729415-16729416	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145686934	chr5:16729434-16729435	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35048512	chr5:16729443-16729444	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563015422	chr5:16729514-16729515	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556629916	chr5:16729518-16729519	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568317940	chr5:16729550-16729551	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs10077277	chr5:16729551-16729552	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377091081	chr5:16729562-16729563	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74518101	chr5:16729577-16729578	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191594982	chr5:16729583-16729584	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550974661	chr5:16729612-16729613	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572405009	chr5:16729623-16729624	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562676983	chr5:16729624-16729625	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545999341	chr5:16729654-16729655	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs183502013	chr5:16729673-16729674	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188844367	chr5:16729694-16729695	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs193228524	chr5:16729705-16729706	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs566619166	chr5:16729721-16729722	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561822710	chr5:16729755-16729756	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185480241	chr5:16729774-16729775	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533727564	chr5:16729795-16729796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560396220	chr5:16729800-16729801	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369231314	chr5:16729801-16729802	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:16711200-16736400	Weak transcription	Hela-S3	cervix
3	chr5:16711400-16730200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:16711400-16731800	Weak transcription	HMEC	breast
5	chr5:16711600-16736000	Weak transcription	Placenta	Placenta
6	chr5:16713800-16731600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:16713800-16735600	Weak transcription	Colonic Mucosa	Colon
8	chr5:16714000-16730200	Weak transcription	Osteobl	bone
9	chr5:16714200-16730400	Weak transcription	NHLF	lung
10	chr5:16714200-16736000	Weak transcription	NHDF-Ad	bronchial
11	chr5:16714400-16730000	Weak transcription	NH-A	brain
12	chr5:16722200-16730200	Weak transcription	Stomach Mucosa	stomach
13	chr5:16722200-16734200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:16722400-16729800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:16722400-16730000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:16722400-16730000	Weak transcription	NHEK	skin
17	chr5:16722400-16730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:16722400-16734000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:16722600-16736000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr5:16723400-16735600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:16724600-16734800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr5:16724800-16728800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:16725800-16729000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:16725800-16729200	Enhancers	Brain Anterior Caudate	brain
25	chr5:16725800-16730000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:16726200-16728800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:16726200-16729000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:16726200-16729000	Enhancers	HSMMtube	muscle
29	chr5:16726200-16729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr5:16726400-16728800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:16726400-16729000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:16726400-16729000	Enhancers	Brain Substantia Nigra	brain
33	chr5:16726600-16729000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:16727000-16729000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:16727000-16731600	Weak transcription	Gastric	stomach
36	chr5:16727200-16730000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:16727400-16729000	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:16727400-16729200	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:16727600-16728600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:16727600-16728600	Enhancers	Colon Smooth Muscle	Colon
41	chr5:16727600-16728600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr5:16727600-16728800	Enhancers	Fetal Lung	lung
43	chr5:16727600-16729000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr5:16727600-16729000	Enhancers	Fetal Muscle Leg	muscle
45	chr5:16727600-16729200	Enhancers	Fetal Brain Male	brain
46	chr5:16727600-16729400	Enhancers	HUVEC	blood vessel
47	chr5:16727600-16735400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:16727800-16728600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:16727800-16728600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr5:16727800-16728600	Enhancers	Brain Inferior Temporal Lobe	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links