Variant report

Variant	esv3479743
Chromosome Location	chr8:106796452-106797380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:106796470-106797055	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:106793819..106795349-chr8:106797024..106799447,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-778D12.2.1-4	chr8:106797232-106797445	ENSG00000251003.2
2	lnc-RP11-778D12.2.1-4	chr8:106797219-106797445	ENSG00000251003.2
3	lnc-RP11-778D12.2.1-4	chr8:106797283-106797445	ENSG00000251003.2

No data

Variant related genes	Relation type
ZFPM2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538976751	chr8:106796488-106796489	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs111873300	chr8:106796502-106796503	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs376535033	chr8:106796533-106796534	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs16873678	chr8:106796540-106796541	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs542623375	chr8:106796562-106796563	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs16873680	chr8:106796618-106796619	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573304431	chr8:106796882-106796883	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs371231247	chr8:106796920-106796921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs564968359	chr8:106796967-106796968	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs386728530	chr8:106796972-106796973	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577939886	chr8:106796979-106796980	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532367960	chr8:106796982-106796983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550858171	chr8:106797028-106797029	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs143087211	chr8:106797036-106797037	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148212476	chr8:106797061-106797062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181349352	chr8:106797069-106797070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566549821	chr8:106797073-106797074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184688543	chr8:106797090-106797091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117940380	chr8:106797226-106797227	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs550203447	chr8:106797289-106797290	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547148054	chr8:106797291-106797292	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7816259	chr8:106797317-106797318	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569961744	chr8:106797325-106797326	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs188190608	chr8:106797345-106797346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs7816597	chr8:106797346-106797347	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181002325	chr8:106797350-106797351	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs569214935	chr8:106797357-106797358	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs536648359	chr8:106797366-106797367	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs185067277	chr8:106797368-106797369	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs7834726	chr8:106797379-106797380	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:101)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106782200-106800800	Weak transcription	K562	blood
2	chr8:106782800-106809000	Weak transcription	NH-A	brain
3	chr8:106783200-106813200	Weak transcription	Psoas Muscle	Psoas
4	chr8:106783200-106813200	Weak transcription	Right Ventricle	heart
5	chr8:106783400-106809000	Weak transcription	Aorta	Aorta
6	chr8:106787600-106809000	Weak transcription	Ovary	ovary
7	chr8:106791800-106813800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:106792200-106809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:106792200-106813200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:106792600-106800600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:106792600-106809000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:106792800-106809000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:106793000-106799000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:106794200-106800000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:106794400-106797200	Weak transcription	Fetal Heart	heart
16	chr8:106794400-106799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:106796200-106796600	Enhancers	HUVEC	blood vessel
18	chr8:106796600-106823600	Weak transcription	HUVEC	blood vessel
19	chr8:106796800-106798000	Enhancers	Left Ventricle	heart
20	chr8:106797200-106797800	Enhancers	Fetal Heart	heart

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