Variant report

Variant	esv2144850
Chromosome Location	chr6:57255570-57255574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113343421	chr6:57255570-57255571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559925692	chr6:57255571-57255572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs80163328	chr6:57255572-57255573	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs398110166	chr6:57255573-57255574	Weak transcription 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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57238400-57261000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:57241200-57262600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:57242800-57259800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:57244400-57259200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:57245200-57257000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:57245600-57256200	Weak transcription	Fetal Intestine Large	intestine
7	chr6:57245600-57261200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:57245800-57256000	Weak transcription	Fetal Brain Male	brain
9	chr6:57247000-57261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:57247600-57258000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:57247600-57259800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:57248000-57258200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:57249000-57257600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:57249200-57261800	Weak transcription	HSMM	muscle
15	chr6:57249400-57256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:57250800-57259000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:57251200-57262800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:57251600-57262800	Weak transcription	Thymus	Thymus
19	chr6:57252000-57262800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:57252200-57257400	Weak transcription	Dnd41	blood
21	chr6:57253000-57255600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:57253800-57262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:57254200-57257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:57254200-57262800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:57254200-57262800	Weak transcription	Ovary	ovary
26	chr6:57254400-57262600	Weak transcription	Osteobl	bone
27	chr6:57254800-57255600	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr6:57254800-57255800	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr6:57255000-57256200	Weak transcription	Fetal Thymus	thymus
30	chr6:57255200-57256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:57255200-57258800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr6:57255400-57255600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:57255400-57255800	ZNF genes & repeats	Fetal Kidney	kidney

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