Variant report

Variant	esv3409906
Chromosome Location	chr11:48375162-48375455
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	E2F4	chr11:48374623-48375377	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr11:48374407-48375433	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
3	FOS	chr11:48374670-48375469	MCF10A-Er-Src	breast:	n/a	chr11:48374839-48374847 chr11:48374838-48374848 chr11:48374840-48374847
4	POLR2A	chr11:48375211-48375286	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr11:48373940-48375192	MCF10A-Er-Src	breast:	n/a	chr11:48375037-48375045 chr11:48374838-48374847 chr11:48374839-48374848
6	STAT3	chr11:48374749-48375283	MCF10A-Er-Src	breast:	n/a	chr11:48375037-48375045 chr11:48374838-48374847 chr11:48374839-48374848

Variant related genes	Relation type
OR4C4P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 61 )

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	rs80316598	chr11:48375205-48375206	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs78020105	chr11:48375232-48375233	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370872290	chr11:48375233-48375234	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs1384657	chr11:48375235-48375236	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs574469665	chr11:48375249-48375250	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73455007	chr11:48375295-48375296	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs77182975	chr11:48375313-48375314	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs76472645	chr11:48375318-48375319	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540350845	chr11:48375320-48375321	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs78828288	chr11:48375329-48375330	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs717896	chr11:48375335-48375336	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs77610646	chr11:48375369-48375370	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs5791833	chr11:48375374-48375375	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs74984679	chr11:48375383-48375384	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs373226286	chr11:48375392-48375393	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73455011	chr11:48375434-48375435	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48373800-48379800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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