Variant report

Variant	esv3418097
Chromosome Location	chr6:56358961-56359228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554482946	chr6:56358965-56358966	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565745746	chr6:56358968-56358969	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368068205	chr6:56358972-56358973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200718530	chr6:56358978-56358979	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371758379	chr6:56359019-56359020	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs11759493	chr6:56359034-56359035	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533802368	chr6:56359039-56359040	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372583736	chr6:56359103-56359104	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs41271860	chr6:56359109-56359110	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs376605438	chr6:56359118-56359119	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189228857	chr6:56359156-56359157	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149001840	chr6:56359186-56359187	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556391760	chr6:56359193-56359194	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Central neurocytomas	17123091	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56308800-56373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:56315600-56371000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:56328600-56362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:56329200-56373800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:56330000-56372400	Weak transcription	Lung	lung
6	chr6:56334400-56359400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:56337600-56364600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:56337600-56376000	Weak transcription	Gastric	stomach
9	chr6:56341800-56407400	Weak transcription	Spleen	Spleen
10	chr6:56344200-56371600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:56344800-56362000	Strong transcription	Fetal Lung	lung
12	chr6:56344800-56372200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr6:56345000-56384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:56345800-56362000	Weak transcription	Colonic Mucosa	Colon
15	chr6:56346000-56372400	Weak transcription	Psoas Muscle	Psoas
16	chr6:56347000-56362000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:56347600-56362200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:56347600-56372200	Weak transcription	Right Ventricle	heart
19	chr6:56347800-56362000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:56348200-56371000	Weak transcription	Small Intestine	intestine
21	chr6:56348200-56373400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:56348600-56374600	Strong transcription	Fetal Intestine Large	intestine
23	chr6:56348800-56373400	Weak transcription	Stomach Mucosa	stomach
24	chr6:56349600-56359200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr6:56349600-56364200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr6:56350200-56367000	Strong transcription	Liver	Liver
27	chr6:56350400-56370800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:56351400-56359400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr6:56351800-56386800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:56352000-56372600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:56352000-56373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:56352200-56373800	Weak transcription	Fetal Thymus	thymus
33	chr6:56352600-56360400	Weak transcription	Fetal Brain Female	brain
34	chr6:56355000-56362000	Weak transcription	Fetal Kidney	kidney
35	chr6:56355400-56363200	Strong transcription	GM12878-XiMat	blood
36	chr6:56355800-56359200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:56356000-56359000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:56356000-56359400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:56356400-56359200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:56356800-56359400	Strong transcription	Adipose Nuclei	Adipose
41	chr6:56357000-56382600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:56357000-56383600	Strong transcription	NH-A	brain
43	chr6:56357000-56384000	Strong transcription	HSMM	muscle
44	chr6:56357200-56359000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr6:56357200-56359400	Strong transcription	Osteobl	bone
46	chr6:56357200-56362000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:56357200-56384200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:56357400-56361000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr6:56357400-56371000	Weak transcription	Fetal Heart	heart
50	chr6:56357600-56361600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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