Variant report

Variant	nsv597309
Chromosome Location	chr5:16791857-16837862
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:16803623..16804217-chr5:16933825..16934788,2	MCF-7	breast:
2	chr5:16791046..16792329-chr5:17190230..17191251,5	MCF-7	breast:
3	chr5:16803642..16805897-chr5:16806344..16809776,4	MCF-7	breast:
4	chr5:16805947..16808433-chr5:16911651..16914280,2	MCF-7	breast:
5	chr5:16827134..16829688-chr5:16861859..16863470,2	MCF-7	breast:
6	chr5:16804606..16806636-chr5:17187193..17189574,2	MCF-7	breast:
7	chr5:16803694..16804550-chr5:17190688..17191667,2	MCF-7	breast:
8	chr5:16791035..16791887-chr5:17189190..17190176,6	MCF-7	breast:
9	chr5:16812869..16815029-chr5:16819964..16822225,2	MCF-7	breast:
10	chr5:16791251..16792040-chr5:17189230..17190196,3	K562	blood:
11	chr5:16803642..16805897-chr5:16806344..16809776,4	MCF-7	breast:
12	chr5:16812869..16815029-chr5:16819964..16822225,2	MCF-7	breast:
13	chr5:16784701..16787932-chr5:16789785..16793090,3	MCF-7	breast:
14	chr5:16791251..16791880-chr5:17203236..17203800,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MYO10	hsa-miR-26a-5p	chr5:16814636-16814657

Extended variants
information (count: 2101 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2101 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs250353	chr5:16791857-16791858	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150433055	chr5:16791861-16791862	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138187950	chr5:16791939-16791940	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs57906463	chr5:16792049-16792050	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs58500020	chr5:16792073-16792074	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529586381	chr5:16792075-16792076	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547635090	chr5:16792095-16792096	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs250354	chr5:16792135-16792136	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73756264	chr5:16792198-16792199	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188664609	chr5:16792214-16792215	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376120782	chr5:16792220-16792221	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72092919	chr5:16792222-16792223	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145154496	chr5:16792237-16792238	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372545988	chr5:16792238-16792239	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62369312	chr5:16792239-16792240	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs480857	chr5:16792241-16792242	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397710048	chr5:16792242-16792243	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7722292	chr5:16792243-16792244	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62369313	chr5:16792245-16792246	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62369314	chr5:16792247-16792248	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62369315	chr5:16792249-16792250	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111351873	chr5:16792251-16792252	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537182621	chr5:16792261-16792262	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111698275	chr5:16792275-16792276	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141771770	chr5:16792288-16792289	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200448566	chr5:16792291-16792292	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201726952	chr5:16792293-16792294	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201806084	chr5:16792301-16792302	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192892330	chr5:16792315-16792316	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185831913	chr5:16792326-16792327	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145334549	chr5:16792343-16792344	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35991846	chr5:16792353-16792354	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541447086	chr5:16792360-16792361	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560055675	chr5:16792373-16792374	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553271221	chr5:16792459-16792460	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190305652	chr5:16792474-16792475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545204095	chr5:16792486-16792487	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563375221	chr5:16792491-16792492	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530622055	chr5:16792566-16792567	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574104650	chr5:16792572-16792573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542402793	chr5:16792634-16792635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547722258	chr5:16792645-16792646	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528032993	chr5:16792658-16792659	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79038985	chr5:16792686-16792687	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372823938	chr5:16792693-16792694	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143162499	chr5:16792696-16792697	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386685863	chr5:16792697-16792698	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377762131	chr5:16792699-16792700	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55727978	chr5:16792700-16792701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566004009	chr5:16792724-16792725	Weak transcription Strong transcription Enhancers Genic 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:1050 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16755200-16795400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:16757600-16796800	Weak transcription	Right Ventricle	heart
3	chr5:16761000-16796600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:16763800-16794600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:16764600-16792800	Weak transcription	Stomach Mucosa	stomach
6	chr5:16764600-16807400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:16770800-16792400	Weak transcription	Placenta	Placenta
8	chr5:16770800-16793800	Weak transcription	Hela-S3	cervix
9	chr5:16775200-16796800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:16778800-16800000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:16779800-16796600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:16779800-16797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:16783000-16797000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:16783000-16797400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:16783400-16792600	Weak transcription	Lung	lung
16	chr5:16783400-16796800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:16783400-16810000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:16784400-16796800	Weak transcription	HMEC	breast
19	chr5:16784600-16809200	Weak transcription	Ovary	ovary
20	chr5:16784800-16794600	Weak transcription	Gastric	stomach
21	chr5:16785200-16792400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:16785200-16794600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:16785400-16792000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:16785400-16792400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:16785400-16794600	Weak transcription	Spleen	Spleen
26	chr5:16785400-16796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:16785800-16792200	Weak transcription	Fetal Stomach	stomach
28	chr5:16785800-16804200	Weak transcription	HSMM	muscle
29	chr5:16788000-16792600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:16788600-16792400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:16788600-16799800	Weak transcription	Pancreas	Pancrea
32	chr5:16789000-16792400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:16789200-16792400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:16789200-16792600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:16789200-16792600	Weak transcription	Fetal Intestine Large	intestine
36	chr5:16789200-16797200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:16789400-16809200	Weak transcription	NHLF	lung
38	chr5:16790200-16792400	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:16790600-16792400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:16790600-16796600	Weak transcription	HUVEC	blood vessel
41	chr5:16790800-16792400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:16790800-16792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:16790800-16797000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:16791000-16792400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:16791200-16792800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:16791200-16792800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:16791200-16796400	Enhancers	Fetal Brain Male	brain
48	chr5:16791400-16792000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr5:16791400-16792200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:16791400-16792400	Enhancers	Skeletal Muscle Male	skeletal muscle

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