Variant report

Variant	esv3441231
Chromosome Location	chr6:166861012-166863510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166858354..166860474-chr6:166862060..166863705,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534062000	chr6:166861015-166861016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs571250630	chr6:166861018-166861019	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538337581	chr6:166861038-166861039	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs553917925	chr6:166861082-166861083	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs572646815	chr6:166861109-166861110	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2281052	chr6:166861171-166861172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs555261186	chr6:166861217-166861218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576653919	chr6:166861228-166861229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181750467	chr6:166861233-166861234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544141005	chr6:166861234-166861235	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186045160	chr6:166861265-166861266	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113424800	chr6:166861272-166861273	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs61195621	chr6:166861285-166861286	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs146707895	chr6:166861291-166861292	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2281051	chr6:166861292-166861293	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181087058	chr6:166861310-166861311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs559334982	chr6:166861357-166861358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs562275357	chr6:166861358-166861359	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs200040888	chr6:166861415-166861416	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs3833982	chr6:166861416-166861417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs397831097	chr6:166861421-166861422	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111680950	chr6:166861441-166861442	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140180605	chr6:166861485-166861486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs3752927	chr6:166861519-166861520	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113193721	chr6:166861571-166861572	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs386708466	chr6:166861572-166861573	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs35477200	chr6:166861573-166861574	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532153015	chr6:166861589-166861590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547465548	chr6:166861605-166861606	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563033695	chr6:166861621-166861622	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150304664	chr6:166861629-166861630	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536392499	chr6:166861631-166861632	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs3752924	chr6:166861633-166861634	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114614543	chr6:166861647-166861648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs373450365	chr6:166861695-166861696	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs3833981	chr6:166861705-166861706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115974319	chr6:166861749-166861750	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs149220896	chr6:166861779-166861780	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs529572007	chr6:166861829-166861830	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75110206	chr6:166861865-166861866	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9457170	chr6:166861958-166861959	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs114311427	chr6:166862033-166862034	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541949419	chr6:166862036-166862037	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143368945	chr6:166862071-166862072	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564159071	chr6:166862096-166862097	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560803654	chr6:166862132-166862133	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7746519	chr6:166862136-166862137	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373177303	chr6:166862164-166862165	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539998046	chr6:166862165-166862166	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532101705	chr6:166862166-166862167	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
4	chr6:166827000-166873400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:166827600-166867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:166830000-166866600	Weak transcription	Fetal Intestine Large	intestine
7	chr6:166833200-166864400	Weak transcription	Fetal Kidney	kidney
8	chr6:166833200-166879000	Weak transcription	NH-A	brain
9	chr6:166833400-166879000	Weak transcription	HSMM	muscle
10	chr6:166834000-166866400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:166834200-166863800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:166834600-166862000	Weak transcription	NHDF-Ad	bronchial
14	chr6:166843000-166865200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:166844200-166865200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:166845800-166862000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:166845800-166863400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr6:166846000-166861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:166846000-166862200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:166846000-166863200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:166846000-166881000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:166848800-166865200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:166850200-166862000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:166850200-166863400	Weak transcription	Stomach Mucosa	stomach
25	chr6:166850200-166865200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr6:166850200-166870000	Weak transcription	Right Atrium	heart
27	chr6:166850400-166862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:166853600-166862000	Weak transcription	Primary T cells from cord blood	blood
29	chr6:166854000-166864200	Weak transcription	HUVEC	blood vessel
30	chr6:166854400-166862000	Strong transcription	Lung	lung
31	chr6:166854800-166862800	Strong transcription	Left Ventricle	heart
32	chr6:166855200-166864800	Strong transcription	Pancreas	Pancrea
33	chr6:166855400-166863200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:166855400-166864600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:166855600-166864600	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr6:166855800-166862800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:166855800-166864800	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:166856200-166864800	Strong transcription	Brain Anterior Caudate	brain
39	chr6:166856400-166862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:166856400-166862800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:166856800-166862600	Strong transcription	Adipose Nuclei	Adipose
42	chr6:166857400-166863200	Strong transcription	Brain Hippocampus Middle	brain
43	chr6:166857800-166863000	Strong transcription	Fetal Stomach	stomach
44	chr6:166857800-166863200	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:166857800-166865200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr6:166858000-166862600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:166858000-166862800	Strong transcription	Fetal Brain Female	brain
48	chr6:166858000-166863400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr6:166858000-166864800	Strong transcription	Gastric	stomach
50	chr6:166858000-166865000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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