Variant report

Variant	nsv4737
Chromosome Location	chr5:16681166-16707357
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16690097..16690919-chr5:17190336..17190908,2	MCF-7	breast:
2	chr5:16667013..16667892-chr5:16690340..16691325,2	MCF-7	breast:
3	chr5:16690385..16690941-chr5:16790933..16791791,2	MCF-7	breast:
4	chr5:16680167..16682667-chr5:16701918..16704476,2	MCF-7	breast:
5	chr5:16699313..16701301-chr5:16704583..16706193,2	K562	blood:
6	chr5:16680167..16682667-chr5:16701918..16704476,2	MCF-7	breast:
7	chr5:16693261..16695591-chr5:16699683..16702377,2	MCF-7	breast:
8	chr5:16596048..16598772-chr5:16707141..16709830,2	K562	blood:
9	chr5:16690107..16691016-chr5:16776506..16777632,8	MCF-7	breast:
10	chr5:16489475..16489994-chr5:16681988..16682546,2	MCF-7	breast:
11	chr5:16699313..16701301-chr5:16704583..16706193,2	K562	blood:
12	chr5:16690040..16691056-chr5:17203092..17204089,5	MCF-7	breast:
13	chr5:16236004..16236570-chr5:16690055..16690976,2	K562	blood:
14	chr5:16693261..16695591-chr5:16699683..16702377,2	MCF-7	breast:
15	chr5:16690101..16691036-chr5:16776467..16777868,10	MCF-7	breast:

No data

Extended variants
information (count: 1304 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190393431	chr5:16681173-16681174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144008885	chr5:16681192-16681193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538891506	chr5:16681195-16681196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557304402	chr5:16681200-16681201	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs568950558	chr5:16681221-16681222	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73049033	chr5:16681227-16681228	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs56212177	chr5:16681288-16681289	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs3217322	chr5:16681289-16681290	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs34931591	chr5:16681290-16681291	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs397823957	chr5:16681291-16681292	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs554347281	chr5:16681303-16681304	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs26758	chr5:16681305-16681306	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533658505	chr5:16681377-16681378	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs144271954	chr5:16681387-16681388	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs148751578	chr5:16681398-16681399	Strong transcription Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs181706603	chr5:16681413-16681414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142263783	chr5:16681451-16681452	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376328821	chr5:16681461-16681462	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575745513	chr5:16681464-16681465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370406954	chr5:16681478-16681479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373855667	chr5:16681523-16681524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543231878	chr5:16681553-16681554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368070583	chr5:16681627-16681628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560811057	chr5:16681646-16681647	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55734207	chr5:16681710-16681711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528549171	chr5:16681764-16681765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547134430	chr5:16681815-16681816	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187386389	chr5:16681858-16681859	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377533123	chr5:16681897-16681898	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532593015	chr5:16681929-16681930	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370656938	chr5:16681932-16681933	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374356229	chr5:16681945-16681946	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150835140	chr5:16681953-16681954	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368581565	chr5:16681960-16681961	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2561866	chr5:16681963-16681964	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs399833	chr5:16681966-16681967	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190734011	chr5:16681974-16681975	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180896948	chr5:16681986-16681987	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533596298	chr5:16681999-16682000	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376754788	chr5:16682012-16682013	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2288439	chr5:16682026-16682027	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184964953	chr5:16682032-16682033	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs16868979	chr5:16682062-16682063	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370082246	chr5:16682063-16682064	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373291363	chr5:16682065-16682066	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377512385	chr5:16682066-16682067	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368894995	chr5:16682068-16682069	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189624854	chr5:16682071-16682072	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372579703	chr5:16682074-16682075	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143433432	chr5:16682075-16682076	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:761 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661600-16689400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
5	chr5:16663800-16690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
11	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:16664600-16690600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:16667400-16683600	Weak transcription	Liver	Liver
18	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
19	chr5:16670800-16686000	Strong transcription	Fetal Stomach	stomach
20	chr5:16671000-16691000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr5:16671200-16690200	Strong transcription	HUVEC	blood vessel
22	chr5:16671800-16685400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
24	chr5:16674200-16687000	Strong transcription	Fetal Lung	lung
25	chr5:16674200-16693000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:16675000-16690400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:16675200-16681200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr5:16675400-16683000	Weak transcription	Aorta	Aorta
29	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
30	chr5:16676200-16684600	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr5:16677600-16690200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:16677800-16690800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:16678000-16684600	Strong transcription	Brain Angular Gyrus	brain
35	chr5:16678000-16685800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:16678000-16686200	Strong transcription	Fetal Brain Female	brain
37	chr5:16678000-16691000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:16678000-16691400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:16678200-16684200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:16678200-16684200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr5:16678200-16684200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:16678200-16686000	Strong transcription	NHEK	skin
43	chr5:16678200-16687600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:16678200-16690200	Strong transcription	HepG2	liver
45	chr5:16678200-16690800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr5:16678200-16691000	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:16678200-16691000	Strong transcription	NH-A	brain
48	chr5:16678200-16691200	Strong transcription	A549	lung
49	chr5:16678400-16681800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:16678400-16684200	Strong transcription	Brain Germinal Matrix	brain

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