Variant report

Variant	nsv968213
Chromosome Location	chr5:79794173-79797743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:79794642-79794711	Lung_OC	lung:	n/a	n/a
2	POLR2A	chr5:79794299-79794474	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:79794968-79795369	MCF10A-Er-Src	breast:	n/a	n/a
4	REST	chr5:79796957-79797141	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr5:79796916-79797193	H1-hESC	embryonic stem cell:	n/a	n/a
6	RFX5	chr5:79795481-79795660	K562	blood:	n/a	n/a
7	STAT3	chr5:79797212-79797421	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79791201..79794183-chr5:79803550..79806446,2	MCF-7	breast:

Variant related genes	Relation type
FAM151B	TF binding region
ENSG00000242706	TF binding region
RPL7P24	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560316161	chr5:79794219-79794220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563795956	chr5:79794225-79794226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371560826	chr5:79794249-79794250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532556575	chr5:79794299-79794300	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs78637481	chr5:79794344-79794345	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs569421407	chr5:79794357-79794358	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs73769115	chr5:79794457-79794458	Enhancers Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576352867	chr5:79794463-79794464	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs548634012	chr5:79794487-79794488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114564132	chr5:79794490-79794491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370365813	chr5:79794617-79794618	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534339364	chr5:79794635-79794636	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs554262913	chr5:79794678-79794679	Enhancers Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs570638686	chr5:79794684-79794685	Enhancers Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs539226638	chr5:79794690-79794691	Enhancers Weak transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs115170118	chr5:79794723-79794724	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148061654	chr5:79794733-79794734	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541707799	chr5:79794774-79794775	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533163195	chr5:79794784-79794785	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550182728	chr5:79794789-79794790	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111303160	chr5:79794804-79794805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201109845	chr5:79794833-79794834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540735875	chr5:79794846-79794847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145813328	chr5:79794873-79794874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532762052	chr5:79794913-79794914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546105849	chr5:79794920-79794921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563079940	chr5:79794924-79794925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372661181	chr5:79794941-79794942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531951358	chr5:79794950-79794951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548894587	chr5:79794963-79794964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376888009	chr5:79794977-79794978	Weak transcription Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs369212951	chr5:79795064-79795065	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs576337132	chr5:79795084-79795085	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs183874509	chr5:79795102-79795103	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs547930012	chr5:79795111-79795112	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs570831546	chr5:79795129-79795130	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs138638639	chr5:79795151-79795152	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs142765466	chr5:79795184-79795185	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs569824759	chr5:79795203-79795204	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs75749233	chr5:79795208-79795209	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs555200552	chr5:79795233-79795234	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs189229170	chr5:79795239-79795240	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs537568627	chr5:79795264-79795265	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs534292146	chr5:79795267-79795268	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs79871521	chr5:79795407-79795408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116647661	chr5:79795413-79795414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543491948	chr5:79795455-79795456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74441502	chr5:79795487-79795488	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs11952983	chr5:79795488-79795489	Weak transcription	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191407955	chr5:79795490-79795491	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79784600-79794600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:79784600-79797400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:79784800-79806600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:79784800-79819400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:79785000-79822800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:79785200-79817600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:79787600-79795000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:79790800-79794600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:79790800-79811200	Weak transcription	Placenta	Placenta
10	chr5:79791000-79794400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:79791400-79794400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:79791400-79798000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr5:79793600-79794600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:79794400-79794800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:79794400-79794800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:79794600-79794800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:79794600-79794800	ZNF genes & repeats	Esophagus	oesophagus
18	chr5:79794600-79795000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:79794600-79795000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:79794800-79798000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:79794800-79812800	Weak transcription	Esophagus	oesophagus
22	chr5:79795000-79797600	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:79795600-79806000	Weak transcription	Psoas Muscle	Psoas
24	chr5:79797600-79799000	Enhancers	Primary neutrophils fromperipheralblood	blood

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