Variant report

Variant	esv3406755
Chromosome Location	chr6:149763459-149768057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149763379..149766103-chr6:149776553..149779366,2	MCF-7	breast:
2	chr6:149353960..149356786-chr6:149766378..149768113,2	MCF-7	breast:
3	chr6:149762143..149764363-chr6:149765543..149768268,2	K562	blood:
4	chr6:149767445..149770252-chr6:149772541..149774258,2	MCF-7	breast:
5	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
6	chr6:149763319..149765484-chr6:149839894..149842239,2	MCF-7	breast:
7	chr6:149762143..149764363-chr6:149765543..149768268,2	K562	blood:
8	chr6:149757368..149759713-chr6:149765073..149766703,2	K562	blood:
9	chr6:149763441..149766003-chr6:149768583..149771236,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178199	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs543832337	chr6:149763479-149763480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563835669	chr6:149763485-149763486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569478583	chr6:149763592-149763593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544507867	chr6:149763593-149763594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533925337	chr6:149763601-149763602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200235568	chr6:149763615-149763616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79285674	chr6:149763656-149763657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550804273	chr6:149763662-149763663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575711901	chr6:149763672-149763673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201217368	chr6:149763676-149763677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577359700	chr6:149763677-149763678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540334169	chr6:149763700-149763701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192284631	chr6:149763724-149763725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs634440	chr6:149763739-149763740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184622882	chr6:149763752-149763753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540356926	chr6:149763763-149763764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533550450	chr6:149763817-149763818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188914778	chr6:149763821-149763822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs530908427	chr6:149763866-149763867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193269687	chr6:149763905-149763906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570865184	chr6:149763912-149763913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2789495	chr6:149763956-149763957	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566915656	chr6:149763961-149763962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536079013	chr6:149763992-149763993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143415393	chr6:149764018-149764019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs368518413	chr6:149764033-149764034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115239508	chr6:149764038-149764039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557291422	chr6:149764060-149764061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573222818	chr6:149764074-149764075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116669991	chr6:149764088-149764089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62426125	chr6:149764121-149764122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148376047	chr6:149764137-149764138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140565990	chr6:149764145-149764146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184204515	chr6:149764146-149764147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs542838304	chr6:149764190-149764191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562770567	chr6:149764268-149764269	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560004700	chr6:149764284-149764285	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528951109	chr6:149764325-149764326	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs371055217	chr6:149764351-149764352	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374621149	chr6:149764388-149764389	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531593221	chr6:149764448-149764449	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367695219	chr6:149764457-149764458	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs9498356	chr6:149764473-149764474	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189474916	chr6:149764520-149764521	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375219060	chr6:149764555-149764556	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs181122888	chr6:149764562-149764563	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546761367	chr6:149764615-149764616	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566982466	chr6:149764624-149764625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4895789	chr6:149764654-149764655	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549205908	chr6:149764717-149764718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	21448237	CNVD
Autism	22495311	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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149749800-149764400	Weak transcription	Right Atrium	heart
2	chr6:149753400-149770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:149753600-149768400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:149753600-149769600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:149760600-149766600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:149760800-149765800	Weak transcription	GM12878-XiMat	blood
7	chr6:149761600-149769600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149762000-149763600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:149762400-149764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:149762600-149764400	Weak transcription	Left Ventricle	heart
11	chr6:149762600-149764600	Weak transcription	NH-A	brain
12	chr6:149762600-149770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:149762800-149771000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr6:149763000-149764400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:149763000-149764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:149763000-149764800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:149763200-149764200	Weak transcription	Brain Hippocampus Middle	brain
18	chr6:149763200-149764200	Weak transcription	Fetal Lung	lung
19	chr6:149763200-149764200	Weak transcription	Ovary	ovary
20	chr6:149763200-149764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:149763200-149764600	Weak transcription	Placenta	Placenta
22	chr6:149763200-149765800	Weak transcription	Right Ventricle	heart
23	chr6:149763200-149770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:149763200-149771000	Weak transcription	Fetal Intestine Small	intestine
25	chr6:149763200-149771400	Weak transcription	Pancreas	Pancrea
26	chr6:149763400-149766000	Enhancers	HepG2	liver
27	chr6:149763600-149764000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:149764000-149765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:149764200-149764600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:149764200-149765200	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr6:149764200-149765200	Enhancers	Brain Hippocampus Middle	brain
32	chr6:149764200-149765200	Enhancers	Fetal Lung	lung
33	chr6:149764200-149765200	Enhancers	Ovary	ovary
34	chr6:149764400-149764800	Enhancers	Right Atrium	heart
35	chr6:149764400-149764800	Enhancers	Spleen	Spleen
36	chr6:149764400-149765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:149764400-149765000	Enhancers	Left Ventricle	heart
38	chr6:149764400-149765200	Enhancers	Brain Anterior Caudate	brain
39	chr6:149764400-149765200	Enhancers	Brain Cingulate Gyrus	brain
40	chr6:149764400-149765200	Enhancers	Brain Substantia Nigra	brain
41	chr6:149764400-149765200	Enhancers	Fetal Stomach	stomach
42	chr6:149764400-149765400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:149764400-149765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:149764600-149764800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:149764600-149764800	Enhancers	Placenta	Placenta
46	chr6:149764600-149764800	Enhancers	Lung	lung
47	chr6:149764600-149765000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:149764600-149765200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr6:149764600-149768600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr6:149764800-149765000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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