Variant report

Variant	nsv10786
Chromosome Location	chr5:179083976-179084928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:179084502-179085318	K562	blood:	n/a	n/a
2	CBX3	chr5:179084818-179085122	K562	blood:	n/a	n/a
3	CTCF	chr5:179084850-179085136	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr5:179084858-179085158	LNCaP	prostate:	n/a	n/a
5	CTCF	chr5:179084700-179084850	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr5:179084837-179085113	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:179084772-179084773	GM12878	blood:	n/a	n/a
8	CTCF	chr5:179084835-179085141	GM10248	blood:	n/a	n/a
9	CTCF	chr5:179084805-179085186	A549	lung:	n/a	n/a
10	CTCF	chr5:179084738-179085273	K562	blood:	n/a	n/a
11	CTCF	chr5:179084720-179084870	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr5:179084459-179084525	GM10266	blood:	n/a	n/a
13	CTCF	chr5:179084816-179085148	A549	lung:	n/a	n/a
14	CTCF	chr5:179084748-179085204	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr5:179084705-179085213	GM19240	blood:	n/a	n/a
16	CTCF	chr5:179084785-179085132	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr5:179084576-179084754	GM12891	blood:	n/a	n/a
18	CTCF	chr5:179084884-179085120	HepG2	liver:	n/a	n/a
19	CTCF	chr5:179084842-179085261	Lung_OC	lung:	n/a	n/a
20	CTCF	chr5:179084483-179084559	GM19239	blood:	n/a	n/a
21	CTCF	chr5:179084640-179084790	GM06990	blood:	n/a	n/a
22	CTCF	chr5:179084794-179085214	GM19238	blood:	n/a	n/a
23	CTCF	chr5:179084700-179084850	HCT-116	colon:	n/a	n/a
24	CTCF	chr5:179084700-179084850	BE2_C	brain:	n/a	n/a
25	CTCF	chr5:179084811-179085148	GM13976	blood:	n/a	n/a
26	CTCF	chr5:179084737-179084744	GM10266	blood:	n/a	n/a
27	CTCF	chr5:179084640-179084790	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr5:179084595-179084731	GM10266	blood:	n/a	n/a
29	CTCF	chr5:179084660-179084810	HVMF	connective:	n/a	n/a
30	CTCF	chr5:179084640-179084790	GM12878	blood:	n/a	n/a
31	CTCF	chr5:179084871-179085195	A549	lung:	n/a	n/a
32	CTCF	chr5:179084724-179085134	GM19239	blood:	n/a	n/a
33	CTCF	chr5:179084747-179085147	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:179084772-179085189	LNCaP	prostate:	n/a	n/a
35	CTCF	chr5:179084852-179085206	Pancreas_OC	pancreas:	n/a	n/a
36	CTCF	chr5:179084704-179085330	A549	lung:	n/a	n/a
37	CTCF	chr5:179084764-179085244	K562	blood:	n/a	n/a
38	CTCF	chr5:179084839-179085139	K562	blood:	n/a	n/a
39	CTCF	chr5:179084647-179084742	GM10248	blood:	n/a	n/a
40	CTCF	chr5:179084822-179085385	GM10266	blood:	n/a	n/a
41	CTCF	chr5:179084631-179085427	K562	blood:	n/a	n/a
42	CTCF	chr5:179084836-179085162	GM13977	blood:	n/a	n/a
43	CTCF	chr5:179084622-179084715	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr5:179084758-179085192	A549	lung:	n/a	n/a
45	CTCF	chr5:179084858-179085122	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:179084851-179085139	GM20000	blood:	n/a	n/a
47	CTCF	chr5:179084776-179085166	GM12878	blood:	n/a	n/a
48	CTCF	chr5:179084680-179084830	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr5:179084824-179085150	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:179084848-179085208	Kidney_OC	kidney:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:
2	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC136604.1-1	chr5:179084763-179085098	XLOC_004677

No data

Variant related genes	Relation type
ENSG00000250999	TF binding region
ENSG00000169045	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201477240	chr5:179084045-179084046	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188342995	chr5:179084049-179084050	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs373823369	chr5:179084056-179084057	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs373566428	chr5:179084328-179084329	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs563039774	chr5:179084336-179084337	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537902866	chr5:179084337-179084338	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530027851	chr5:179084348-179084349	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572977499	chr5:179084655-179084656	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs367772954	chr5:179084656-179084657	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372845668	chr5:179084725-179084726	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140152349	chr5:179084782-179084783	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs548592787	chr5:179084804-179084805	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs373395917	chr5:179084843-179084844	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs112843525	chr5:179084892-179084893	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179052200-179085400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179078200-179085400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:179078400-179085400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:179084400-179084600	Enhancers	Dnd41	blood
5	chr5:179084600-179084800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:179084600-179084800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:179084600-179085000	Flanking Active TSS	Dnd41	blood
8	chr5:179084600-179085400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:179084600-179085400	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr5:179084600-179085400	Enhancers	HMEC	breast
11	chr5:179084600-179085600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179084600-179085600	Active TSS	Duodenum Mucosa	Duodenum
13	chr5:179084600-179085600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr5:179084600-179085600	Active TSS	HepG2	liver
15	chr5:179084600-179086000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:179084600-179086200	Active TSS	Fetal Brain Female	brain
17	chr5:179084800-179085000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:179084800-179085400	Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr5:179084800-179085400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr5:179084800-179085400	Active TSS	Adipose Nuclei	Adipose
21	chr5:179084800-179085400	Active TSS	Liver	Liver
22	chr5:179084800-179085400	Active TSS	Brain Anterior Caudate	brain
23	chr5:179084800-179085400	Active TSS	Fetal Muscle Leg	muscle
24	chr5:179084800-179085400	Active TSS	Psoas Muscle	Psoas
25	chr5:179084800-179085400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr5:179084800-179085600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:179084800-179085600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:179084800-179085600	Active TSS	Colonic Mucosa	Colon
29	chr5:179084800-179085600	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr5:179084800-179085600	Active TSS	Fetal Stomach	stomach
31	chr5:179084800-179085600	Active TSS	Left Ventricle	heart
32	chr5:179084800-179085600	Active TSS	A549	lung
33	chr5:179084800-179085800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:179084800-179085800	Active TSS	H9 Cell Line	embryonic stem cell
35	chr5:179084800-179085800	Active TSS	Brain Substantia Nigra	brain
36	chr5:179084800-179085800	Active TSS	Colon Smooth Muscle	Colon
37	chr5:179084800-179085800	Active TSS	NHDF-Ad	bronchial
38	chr5:179084800-179086000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:179084800-179086000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:179084800-179086000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:179084800-179086000	Active TSS	Pancreas	Pancrea
42	chr5:179084800-179086000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:179084800-179086000	Active TSS	Rectal Smooth Muscle	rectum
44	chr5:179084800-179086000	Active TSS	Right Atrium	heart
45	chr5:179084800-179086000	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:179084800-179086000	Active TSS	Osteobl	bone
47	chr5:179084800-179086200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:179084800-179086200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:179084800-179086400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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