Variant report

Variant	esv3377268
Chromosome Location	chr6:58145593-58149491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9500636	chr6:58146023-58146024	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4598117	chr6:58146054-58146055	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575320093	chr6:58146080-58146081	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4527737	chr6:58146087-58146088	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs564437416	chr6:58146137-58146138	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs532293207	chr6:58146221-58146222	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540870683	chr6:58146233-58146234	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4370397	chr6:58146338-58146339	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs3890799	chr6:58146384-58146385	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374226340	chr6:58146412-58146413	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs530056299	chr6:58146437-58146438	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs372489899	chr6:58146443-58146444	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548191138	chr6:58146448-58146449	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs569695123	chr6:58146449-58146450	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530543727	chr6:58146515-58146516	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs552217015	chr6:58146605-58146606	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs147329240	chr6:58146617-58146618	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs4337957	chr6:58146643-58146644	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs11968971	chr6:58146654-58146655	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs553340399	chr6:58146658-58146659	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs568407785	chr6:58146674-58146675	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372747920	chr6:58146681-58146682	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs112818771	chr6:58146726-58146727	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs7451170	chr6:58146756-58146757	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs187231697	chr6:58146764-58146765	Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs201793459	chr6:58146822-58146823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs575198825	chr6:58146894-58146895	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs4329142	chr6:58146901-58146902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs558182243	chr6:58146964-58146965	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs3011331	chr6:58146969-58146970	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs573300543	chr6:58147018-58147019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs541211062	chr6:58147025-58147026	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs559620293	chr6:58147032-58147033	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs529994144	chr6:58147062-58147063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs542118030	chr6:58147066-58147067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs4534013	chr6:58147067-58147068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs563591608	chr6:58147076-58147077	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs530476945	chr6:58147091-58147092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs551889161	chr6:58147096-58147097	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs564209153	chr6:58147116-58147117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs528216805	chr6:58147141-58147142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs547158301	chr6:58147157-58147158	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs568345132	chr6:58147166-58147167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs535666522	chr6:58147197-58147198	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs550818850	chr6:58147222-58147223	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569209549	chr6:58147233-58147234	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539815183	chr6:58147234-58147235	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557907021	chr6:58147259-58147260	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573271133	chr6:58147272-58147273	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534060021	chr6:58147276-58147277	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Gastric cancer	17908304	CNVD
Neuroblastoma	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
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
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58146000-58147000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:58146200-58149800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr6:58146400-58146600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:58146400-58147000	Bivalent Enhancer	HepG2	liver
7	chr6:58146600-58146800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:58146600-58146800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:58146600-58147000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:58146600-58147400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:58146600-58147600	Bivalent/Poised TSS	HUVEC	blood vessel
12	chr6:58146600-58148000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr6:58146600-58149200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:58146600-58149600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr6:58146600-58149600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr6:58146600-58149800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:58146600-58149800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:58146600-58149800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:58146600-58149800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:58146800-58147000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr6:58146800-58148200	Bivalent Enhancer	Liver	Liver
22	chr6:58146800-58149000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:58146800-58149600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:58146800-58149600	Bivalent/Poised TSS	NHDF-Ad	bronchial
25	chr6:58146800-58149600	Bivalent/Poised TSS	Osteobl	bone
26	chr6:58147000-58147200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
27	chr6:58147000-58147200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr6:58147000-58147200	Bivalent/Poised TSS	HMEC	breast
29	chr6:58147000-58147400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:58147000-58147400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr6:58147000-58147400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:58147000-58147400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:58147000-58147600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:58147000-58147600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:58147000-58147600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr6:58147000-58148000	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr6:58147000-58148200	Bivalent/Poised TSS	NHEK	skin
38	chr6:58147000-58148400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr6:58147000-58149200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:58147000-58149600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr6:58147000-58149600	Bivalent Enhancer	Placenta	Placenta
42	chr6:58147200-58147400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr6:58147200-58147400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:58147200-58147400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
45	chr6:58147200-58147400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:58147200-58147400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr6:58147200-58147400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
48	chr6:58147200-58147400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
49	chr6:58147200-58147400	Bivalent Enhancer	Fetal Brain Male	brain
50	chr6:58147200-58147400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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