Variant report

Variant	esv2357213
Chromosome Location	chr8:106797445-106797850
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	chr8:106797554-106797710	MCF10A-Er-Src	breast:	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: 26 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544422316	chr8:106797478-106797479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370185131	chr8:106797479-106797480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141523219	chr8:106797482-106797483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146350499	chr8:106797523-106797524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541792161	chr8:106797542-106797543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73306855	chr8:106797545-106797546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571186218	chr8:106797551-106797552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527305139	chr8:106797557-106797558	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113148681	chr8:106797558-106797559	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138511349	chr8:106797560-106797561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs533773514	chr8:106797564-106797565	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs559204565	chr8:106797565-106797566	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs191003913	chr8:106797568-106797569	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs117309786	chr8:106797571-106797572	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182326295	chr8:106797613-106797614	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201600420	chr8:106797638-106797639	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375407732	chr8:106797640-106797641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536578726	chr8:106797645-106797646	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs139779882	chr8:106797673-106797674	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553701607	chr8:106797686-106797687	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs386728531	chr8:106797693-106797694	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200390062	chr8:106797699-106797700	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs529170313	chr8:106797718-106797719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186837209	chr8:106797720-106797721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117525172	chr8:106797734-106797735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191728040	chr8:106797815-106797816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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:19 , 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	chr8:106794400-106799200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:106796600-106823600	Weak transcription	HUVEC	blood vessel
17	chr8:106796800-106798000	Enhancers	Left Ventricle	heart
18	chr8:106797200-106797800	Enhancers	Fetal Heart	heart
19	chr8:106797800-106799200	Weak transcription	Fetal Heart	heart

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