Variant report

Variant	esv3381691
Chromosome Location	chr6:55506042-55532508
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55514122..55516978-chr6:55542279..55544094,2	MCF-7	breast:
2	chr6:55500522..55503639-chr6:55505858..55508872,3	MCF-7	breast:
3	chr6:55531061..55532895-chr6:55533088..55535151,2	MCF-7	breast:

Extended variants
information (count: 640 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544816645	chr6:55506121-55506122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184166047	chr6:55506127-55506128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188714108	chr6:55506142-55506143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34270961	chr6:55506158-55506159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544114582	chr6:55506164-55506165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192749940	chr6:55506191-55506192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376963630	chr6:55506245-55506246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs13205117	chr6:55506258-55506259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532002936	chr6:55506261-55506262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529484772	chr6:55506262-55506263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543249154	chr6:55506263-55506264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143574734	chr6:55506275-55506276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184204465	chr6:55506309-55506310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559550706	chr6:55506359-55506360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577676827	chr6:55506369-55506370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72973134	chr6:55506428-55506429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571592378	chr6:55506478-55506479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571921192	chr6:55506502-55506503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75911314	chr6:55506520-55506521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550425479	chr6:55506633-55506634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188272569	chr6:55506640-55506641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191640068	chr6:55506659-55506660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552758719	chr6:55506660-55506661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566596413	chr6:55506662-55506663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538706234	chr6:55506663-55506664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558404027	chr6:55506664-55506665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575144612	chr6:55506665-55506666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368351882	chr6:55506669-55506670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371979194	chr6:55506675-55506676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202208120	chr6:55506677-55506678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371129587	chr6:55506712-55506713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375318578	chr6:55506716-55506717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544250049	chr6:55506760-55506761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200190638	chr6:55506953-55506954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574398280	chr6:55506969-55506970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374487367	chr6:55506975-55506976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375070862	chr6:55506976-55506977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386701390	chr6:55506984-55506985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6926071	chr6:55507032-55507033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs184139129	chr6:55507156-55507157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536726778	chr6:55507159-55507160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528704618	chr6:55507197-55507198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189255526	chr6:55507207-55507208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181520781	chr6:55507218-55507219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530784871	chr6:55507240-55507241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369139761	chr6:55507255-55507256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550563301	chr6:55507267-55507268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560809049	chr6:55507278-55507279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572696756	chr6:55507323-55507324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150229781	chr6:55507368-55507369	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55501400-55510400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:55508200-55508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:55509000-55509400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:55510400-55510600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:55510600-55510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:55513800-55514600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:55513800-55514600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr6:55513800-55514800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:55513800-55515600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:55514000-55514600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:55514000-55514600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:55514000-55514800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:55514200-55514400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:55514200-55514600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:55514200-55515600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:55514400-55517400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:55515600-55515800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:55515600-55516000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:55515600-55516200	Enhancers	Fetal Stomach	stomach
20	chr6:55515800-55516600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:55515800-55516800	Enhancers	Fetal Intestine Small	intestine
22	chr6:55516000-55517600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:55516200-55516800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:55516200-55517000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:55516200-55518200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:55516400-55517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr6:55516400-55517400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:55516800-55517800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr6:55517400-55517600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr6:55517400-55518000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:55517800-55520400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:55520400-55520600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:55523800-55524000	Enhancers	NHDF-Ad	bronchial
34	chr6:55524600-55524800	Enhancers	NHDF-Ad	bronchial
35	chr6:55528600-55529600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr6:55528800-55529200	ZNF genes & repeats	Fetal Lung	lung
37	chr6:55528800-55534200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:55529200-55529400	Weak transcription	Fetal Lung	lung
39	chr6:55529400-55529600	Enhancers	Fetal Lung	lung
40	chr6:55529400-55530200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:55529600-55530000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:55529600-55530000	Enhancers	Osteobl	bone
43	chr6:55529600-55530400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:55529600-55530400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:55529600-55530400	Enhancers	HMEC	breast
46	chr6:55529600-55530400	Enhancers	NHEK	skin
47	chr6:55529600-55530600	Weak transcription	Fetal Lung	lung
48	chr6:55529600-55530600	Enhancers	Hela-S3	cervix
49	chr6:55529600-55530800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:55529600-55531200	Enhancers	NHDF-Ad	bronchial

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