Variant report

Variant	nsv597310
Chromosome Location	chr5:16834568-16848200
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16844825..16845663-chr5:17132355..17133261,2	MCF-7	breast:
2	chr5:16843726..16846155-chr5:16931255..16933740,2	MCF-7	breast:
3	chr5:16844716..16845739-chr5:17189554..17191043,3	MCF-7	breast:
4	chr5:16844822..16845733-chr5:17189257..17190121,5	MCF-7	breast:
5	chr5:16844783..16845610-chr5:16933834..16934784,3	MCF-7	breast:
6	chr5:16844775..16845487-chr5:17132389..17133714,4	MCF-7	breast:
7	chr14:77519468..77520138-chr5:16844783..16845778,2	MCF-7	breast:
8	chr5:16844722..16845699-chr5:17190257..17190921,4	MCF-7	breast:
9	chr5:16845210..16846751-chr5:16934802..16937516,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145555	chromatin interactions

Extended variants
information (count: 594 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs31505	chr5:16834568-16834569	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76810767	chr5:16834572-16834573	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540317366	chr5:16834588-16834589	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139686680	chr5:16834602-16834603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149784739	chr5:16834615-16834616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs31504	chr5:16834689-16834690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183194007	chr5:16834724-16834725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531134992	chr5:16834732-16834733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549357746	chr5:16834762-16834763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186455602	chr5:16834768-16834769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78090328	chr5:16834777-16834778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190610323	chr5:16834830-16834831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369581135	chr5:16834834-16834835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373239823	chr5:16834853-16834854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546666221	chr5:16834864-16834865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571324806	chr5:16834875-16834876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182961214	chr5:16834879-16834880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527815711	chr5:16834936-16834937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550856202	chr5:16834998-16834999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569103968	chr5:16835010-16835011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536540742	chr5:16835027-16835028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544848829	chr5:16835039-16835040	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373363589	chr5:16835048-16835049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566639676	chr5:16835050-16835051	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187266080	chr5:16835059-16835060	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533893463	chr5:16835089-16835090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558648914	chr5:16835149-16835150	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576913879	chr5:16835155-16835156	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544178203	chr5:16835242-16835243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192548227	chr5:16835267-16835268	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575889558	chr5:16835283-16835284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543289363	chr5:16835286-16835287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56268767	chr5:16835316-16835317	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183872859	chr5:16835370-16835371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540339229	chr5:16835371-16835372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564991243	chr5:16835374-16835375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532468000	chr5:16835405-16835406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550742230	chr5:16835439-16835440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563150513	chr5:16835463-16835464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546000898	chr5:16835496-16835497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111318792	chr5:16835499-16835500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562102715	chr5:16835537-16835538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9312934	chr5:16835567-16835568	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs371231681	chr5:16835573-16835574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374162572	chr5:16835574-16835575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566686621	chr5:16835585-16835586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140196634	chr5:16835600-16835601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201198426	chr5:16835601-16835602	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10059505	chr5:16835602-16835603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71934500	chr5:16835611-16835612	Weak transcription Strong transcription Enhancers	n/a	n/a	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16818000-16846600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:16820000-16841600	Weak transcription	Fetal Kidney	kidney
3	chr5:16820200-16842600	Weak transcription	HMEC	breast
4	chr5:16820400-16845400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:16820600-16838800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:16820600-16845000	Weak transcription	NH-A	brain
7	chr5:16820800-16843000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:16820800-16855200	Weak transcription	HSMM	muscle
9	chr5:16823600-16835800	Weak transcription	HSMMtube	muscle
10	chr5:16823600-16841600	Weak transcription	HUVEC	blood vessel
11	chr5:16825400-16842800	Weak transcription	NHLF	lung
12	chr5:16827000-16835600	Weak transcription	Ovary	ovary
13	chr5:16827000-16838400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:16827200-16841400	Weak transcription	Fetal Stomach	stomach
15	chr5:16827400-16838000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:16828000-16852400	Weak transcription	NHDF-Ad	bronchial
17	chr5:16828200-16836200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:16828200-16836200	Weak transcription	Fetal Lung	lung
19	chr5:16828400-16842800	Weak transcription	NHEK	skin
20	chr5:16828600-16841200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:16829400-16842400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:16829400-16855800	Weak transcription	Fetal Intestine Small	intestine
23	chr5:16829800-16840200	Weak transcription	Lung	lung
24	chr5:16829800-16841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:16829800-16841800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:16830000-16841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:16830000-16842400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:16830400-16846600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:16831800-16835800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:16832400-16855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:16833000-16838000	Weak transcription	Aorta	Aorta
32	chr5:16833200-16839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:16833400-16835000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:16833600-16834600	Enhancers	Hela-S3	cervix
35	chr5:16833600-16834800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:16833800-16834600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:16833800-16835200	Enhancers	Stomach Mucosa	stomach
38	chr5:16834000-16834600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:16834000-16835200	Enhancers	Pancreas	Pancrea
40	chr5:16834200-16834600	Enhancers	Gastric	stomach
41	chr5:16834200-16834600	Enhancers	Spleen	Spleen
42	chr5:16834200-16835000	Enhancers	A549	lung
43	chr5:16834200-16835200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:16834400-16834600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:16834400-16835400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:16834400-16846200	Weak transcription	Osteobl	bone
47	chr5:16834600-16835800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:16834600-16836200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:16834600-16837600	Weak transcription	Hela-S3	cervix
50	chr5:16834600-16838000	Weak transcription	Fetal Brain Male	brain

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