Variant report

Variant	nsv597263
Chromosome Location	chr5:15672137-15720478
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:15683076..15684017-chr5:15995401..15996222,3	MCF-7	breast:
2	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
3	chr5:15691207..15693876-chr5:15698019..15699867,2	K562	blood:
4	chr5:15691412..15693844-chr5:15721863..15723411,2	MCF-7	breast:
5	chr4:147603707..147604442-chr5:15685536..15686251,2	MCF-7	breast:
6	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-10	chr5:15675993-15677600	NONHSAT100586

No data

Variant related genes	Relation type
ENSG00000129696	chromatin interactions
ENSG00000239039	chromatin interactions

Extended variants
information (count: 1880 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1880 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17523486	chr5:15672137-15672138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559416220	chr5:15672209-15672210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201822952	chr5:15672215-15672216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73058361	chr5:15672216-15672217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186368739	chr5:15672267-15672268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190793696	chr5:15672277-15672278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116298000	chr5:15672368-15672369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150104774	chr5:15672380-15672381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568346560	chr5:15672387-15672388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535856569	chr5:15672389-15672390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182924341	chr5:15672409-15672410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565838063	chr5:15672424-15672425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539204113	chr5:15672461-15672462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372519789	chr5:15672489-15672490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138463510	chr5:15672510-15672511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575877220	chr5:15672545-15672546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536922966	chr5:15672568-15672569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555670845	chr5:15672584-15672585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573525175	chr5:15672655-15672656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375181600	chr5:15672666-15672667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368342117	chr5:15672667-15672668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76851476	chr5:15672681-15672682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576337971	chr5:15672682-15672683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35987843	chr5:15672683-15672684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571816323	chr5:15672699-15672700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372232397	chr5:15672700-15672701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377554839	chr5:15672702-15672703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559446394	chr5:15672709-15672710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369846723	chr5:15672711-15672712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545165310	chr5:15672768-15672769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564668568	chr5:15672789-15672790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531970995	chr5:15672797-15672798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71595944	chr5:15672799-15672800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112307517	chr5:15672808-15672809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369248905	chr5:15672831-15672832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376603109	chr5:15672848-15672849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368311483	chr5:15672854-15672855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529225018	chr5:15672855-15672856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547779000	chr5:15672910-15672911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75387562	chr5:15672928-15672929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565774530	chr5:15672959-15672960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539541390	chr5:15672967-15672968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551486027	chr5:15672997-15672998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371800904	chr5:15673004-15673005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569502121	chr5:15673034-15673035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187469642	chr5:15673066-15673067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374951205	chr5:15673077-15673078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555347837	chr5:15673132-15673133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78432428	chr5:15673163-15673164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376573667	chr5:15673171-15673172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Gastrointestinal stromal cancer	20818650	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
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15665200-15680800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15665400-15674400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:15667800-15676000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:15668400-15674200	Weak transcription	Ovary	ovary
5	chr5:15668400-15679000	Weak transcription	Brain Anterior Caudate	brain
6	chr5:15668600-15673400	Weak transcription	Fetal Heart	heart
7	chr5:15670200-15676000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:15670400-15683200	Weak transcription	HUVEC	blood vessel
9	chr5:15671000-15672200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:15671000-15672400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:15671400-15674000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:15671600-15674200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:15671600-15675400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:15671600-15676800	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:15671800-15674000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:15672200-15674000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:15672200-15684400	Weak transcription	NHDF-Ad	bronchial
18	chr5:15672400-15674000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:15673400-15676200	Enhancers	Fetal Heart	heart
20	chr5:15673800-15674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:15674000-15674200	Weak transcription	Fetal Lung	lung
22	chr5:15674000-15674200	Enhancers	HSMMtube	muscle
23	chr5:15674000-15674600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:15674000-15675200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:15674000-15675200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:15674000-15675400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:15674000-15675800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:15674000-15677000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:15674200-15675200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:15674200-15675800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr5:15674200-15677600	Enhancers	Ovary	ovary
32	chr5:15674200-15680000	Enhancers	Fetal Lung	lung
33	chr5:15674400-15675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr5:15674400-15675800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:15674400-15684200	Weak transcription	HSMMtube	muscle
36	chr5:15674600-15675200	Enhancers	Fetal Stomach	stomach
37	chr5:15674600-15677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:15674800-15675400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:15674800-15676000	Enhancers	Brain Angular Gyrus	brain
40	chr5:15675000-15675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:15675000-15675600	Enhancers	Brain Hippocampus Middle	brain
42	chr5:15675000-15675800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:15675000-15675800	Enhancers	Brain Substantia Nigra	brain
44	chr5:15675000-15676200	Enhancers	Aorta	Aorta
45	chr5:15675000-15677000	Enhancers	Fetal Kidney	kidney
46	chr5:15675000-15677000	Enhancers	Left Ventricle	heart
47	chr5:15675000-15677200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:15675000-15680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:15675200-15676000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:15675200-15676200	Weak transcription	Fetal Stomach	stomach

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