Variant report

Variant	esv2763556
Chromosome Location	chr6:62682644-62809883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
2	chr6:62776601..62778161-chr6:62783168..62785146,2	K562	blood:
3	chr6:62761124..62761875-chrX:154244873..154245663,2	MCF-7	breast:

Extended variants
information (count: 4853 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:4853 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1192440	chr6:62682658-62682659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369045609	chr6:62682695-62682696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574456041	chr6:62682728-62682729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538494060	chr6:62682754-62682755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1192439	chr6:62682767-62682768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377535865	chr6:62682781-62682782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577674782	chr6:62682786-62682787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1393670	chr6:62682799-62682800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35046782	chr6:62682871-62682872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560265890	chr6:62682876-62682877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114915775	chr6:62682877-62682878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542447733	chr6:62682882-62682883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561095558	chr6:62682905-62682906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547106030	chr6:62682933-62682934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550021405	chr6:62682942-62682943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565049389	chr6:62682947-62682948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1192438	chr6:62682972-62682973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1192437	chr6:62682994-62682995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570390303	chr6:62683033-62683034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570454401	chr6:62683122-62683123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12524852	chr6:62683123-62683124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs549210479	chr6:62683126-62683127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189153151	chr6:62683127-62683128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538080934	chr6:62683151-62683152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7450767	chr6:62683165-62683166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569892907	chr6:62683166-62683167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552643847	chr6:62683167-62683168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1192436	chr6:62683234-62683235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572006423	chr6:62683235-62683236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538630789	chr6:62683262-62683263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553852178	chr6:62683264-62683265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549428708	chr6:62683316-62683317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572073856	chr6:62683370-62683371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542666825	chr6:62683375-62683376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554383796	chr6:62683482-62683483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567687790	chr6:62683485-62683486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79269819	chr6:62683524-62683525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192839402	chr6:62683545-62683546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1192435	chr6:62683576-62683577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs564821024	chr6:62683581-62683582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532311800	chr6:62683596-62683597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145676968	chr6:62683615-62683616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544996433	chr6:62683642-62683643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369036233	chr6:62683715-62683716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373324527	chr6:62683727-62683728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201863596	chr6:62683807-62683808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79035985	chr6:62683808-62683809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377530643	chr6:62683833-62683834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77425239	chr6:62683834-62683835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184463664	chr6:62683891-62683892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	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
Ependymoma	16718352	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	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62669200-62690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:62674000-62685000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:62677400-62704600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr6:62682600-62690800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:62685000-62686000	Enhancers	Brain Substantia Nigra	brain
6	chr6:62685000-62686800	Strong transcription	Primary B cells from cord blood	blood
7	chr6:62686800-62718800	Weak transcription	Primary B cells from cord blood	blood
8	chr6:62690400-62691000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:62690600-62690800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:62690600-62691000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr6:62690600-62691000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:62690600-62691200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:62690600-62691600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:62690600-62691600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:62690600-62691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:62690600-62692000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:62690600-62692200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:62690800-62691000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:62690800-62691200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:62691000-62699000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:62691200-62692000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:62691200-62692200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:62692000-62692200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr6:62692200-62692400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:62695400-62695600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:62698600-62699800	Enhancers	Fetal Brain Male	brain
27	chr6:62699000-62699200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:62699200-62699800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:62700000-62705200	Weak transcription	Fetal Intestine Large	intestine
30	chr6:62701400-62702000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:62705200-62705400	Enhancers	Fetal Intestine Large	intestine
32	chr6:62710800-62711200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr6:62710800-62711200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:62716000-62723000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:62718400-62718600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:62718800-62719200	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr6:62719000-62719400	Weak transcription	Fetal Intestine Large	intestine
38	chr6:62719200-62719600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
39	chr6:62719200-62723600	Weak transcription	Primary B cells from cord blood	blood
40	chr6:62719400-62720000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:62719400-62720000	ZNF genes & repeats	Fetal Intestine Large	intestine
42	chr6:62719400-62720200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr6:62719600-62723600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:62722400-62723600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:62722400-62724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:62723600-62724000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:62723600-62724000	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:62723600-62724400	Enhancers	Primary B cells from cord blood	blood
49	chr6:62724000-62724400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:62724400-62749400	Weak transcription	Primary B cells from cord blood	blood

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