Variant report

Variant	esv1927797
Chromosome Location	chr6:57240326-57240327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67829023	chr6:57240326-57240327	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs534196526	chr6:57240327-57240328	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
2	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:57209000-57244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:57221000-57245000	Weak transcription	K562	blood
5	chr6:57222400-57248200	Weak transcription	A549	lung
6	chr6:57224000-57241000	Weak transcription	Dnd41	blood
7	chr6:57229000-57245000	Weak transcription	Left Ventricle	heart
8	chr6:57230000-57245200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:57231600-57244800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:57232800-57245000	Weak transcription	Gastric	stomach
11	chr6:57234000-57241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:57234600-57245000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:57234800-57240800	Weak transcription	Osteobl	bone
14	chr6:57234800-57244600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:57235400-57245200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:57235600-57244800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:57235600-57245000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:57235800-57244800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:57235800-57244800	Weak transcription	Pancreas	Pancrea
20	chr6:57235800-57245000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:57236800-57251000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:57237200-57247800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:57237800-57245000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:57238400-57261000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr6:57238600-57245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:57238800-57240800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:57238800-57241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:57238800-57244800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:57238800-57245000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:57239000-57244600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:57239400-57241200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:57239800-57240400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:57240000-57240400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:57240000-57240600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:57240000-57246800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:57240200-57240400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:57240200-57240800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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