Variant report

Variant	esv3493975
Chromosome Location	chr7:64315372-64316132
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	EP300	chr7:64315466-64315722	K562	blood:	n/a	n/a
2	JUN	chr7:64315474-64315715	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
3	JUND	chr7:64315459-64315676	K562	blood:	n/a	chr7:64315568-64315576 chr7:64315567-64315577 chr7:64315569-64315580
4	PAX5	chr7:64315968-64316238	GM12878	blood:	n/a	n/a
5	STAT5A	chr7:64315306-64315768	K562	blood:	n/a	n/a
6	TAL1	chr7:64315389-64315700	K562	blood:	n/a	n/a
7	TEAD4	chr7:64315363-64315734	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64314139..64316583-chr7:64317085..64319810,2	K562	blood:
2	chr7:64314110..64316754-chr7:64405768..64408146,2	K562	blood:

Variant related genes	Relation type
SEPHS1P1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570167314	chr7:64315380-64315381	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148423974	chr7:64315404-64315405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377386788	chr7:64315442-64315443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114101058	chr7:64315483-64315484	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs529230524	chr7:64315525-64315526	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150210705	chr7:64315526-64315527	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs527683599	chr7:64315541-64315542	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs541716430	chr7:64315612-64315613	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs78009913	chr7:64315645-64315646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs138833147	chr7:64315748-64315749	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs372000262	chr7:64315749-64315750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs116457823	chr7:64315787-64315788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575817316	chr7:64315801-64315802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376513628	chr7:64315825-64315826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368488338	chr7:64315826-64315827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372437678	chr7:64315827-64315828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64310400-64320600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr7:64314600-64315600	Enhancers	K562	blood

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