Variant report

Variant	esv1331275
Chromosome Location	chr11:17732672-17732708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17726249..17728928-chr11:17732573..17735083,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs66854071	chr11:17732673-17732674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12785942	chr11:17732681-17732682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577301299	chr11:17732683-17732684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12787633	chr11:17732695-17732696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12787635	chr11:17732698-17732699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs202156093	chr11:17732701-17732702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369113388	chr11:17732702-17732703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17728800-17735600	Enhancers	Fetal Muscle Leg	muscle
2	chr11:17729800-17736000	Weak transcription	Right Atrium	heart
3	chr11:17730200-17735600	Weak transcription	Psoas Muscle	Psoas
4	chr11:17730200-17735600	Weak transcription	HSMMtube	muscle
5	chr11:17732000-17735800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:17732000-17736200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr11:17732000-17736200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:17732600-17733000	Enhancers	Fetal Muscle Trunk	muscle

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