Variant report

Variant	esv2605073
Chromosome Location	chr11:51574745-51574745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 42 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376348343	chr11:51574745-51574746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51567200-51575800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:51567200-51576400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:51567200-51576600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr11:51567200-51581200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr11:51567200-51581200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:51567200-51581200	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr11:51567200-51581200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr11:51567200-51581400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:51567200-51583200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr11:51567200-51584000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:51567200-51584000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:51567200-51584200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr11:51567200-51584400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr11:51571800-51575800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr11:51571800-51581200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr11:51572000-51575800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr11:51572000-51581200	ZNF genes & repeats	Left Ventricle	heart
19	chr11:51573600-51575400	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:51573600-51575600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:51573600-51575600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:51573600-51575600	Weak transcription	Esophagus	oesophagus
23	chr11:51573600-51575600	Weak transcription	Fetal Heart	heart
24	chr11:51573600-51575600	Weak transcription	Fetal Thymus	thymus
25	chr11:51573600-51575600	Weak transcription	Lung	lung
26	chr11:51573600-51575600	Weak transcription	Ovary	ovary
27	chr11:51573600-51575600	Weak transcription	Pancreas	Pancrea
28	chr11:51573600-51575600	Weak transcription	Right Atrium	heart
29	chr11:51573600-51575600	Weak transcription	Right Ventricle	heart
30	chr11:51573600-51575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:51573600-51575600	Weak transcription	Stomach Mucosa	stomach
32	chr11:51573600-51575600	Weak transcription	Thymus	Thymus
33	chr11:51573600-51575600	Weak transcription	Spleen	Spleen
34	chr11:51573600-51575600	Weak transcription	GM12878-XiMat	blood
35	chr11:51573600-51575600	Weak transcription	Hela-S3	cervix
36	chr11:51573600-51575600	Weak transcription	HSMM	muscle
37	chr11:51573600-51575600	Weak transcription	HUVEC	blood vessel
38	chr11:51573600-51575600	Weak transcription	K562	blood
39	chr11:51573600-51575600	Weak transcription	NH-A	brain
40	chr11:51573600-51575600	Weak transcription	NHDF-Ad	bronchial
41	chr11:51573600-51575600	Weak transcription	NHEK	skin
42	chr11:51573600-51575600	Weak transcription	Osteobl	bone
43	chr11:51574400-51581200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr11:51574600-51575000	ZNF genes & repeats	HepG2	liver
45	chr11:51574600-51581200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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