Variant report

Variant	esv1813136
Chromosome Location	chr6:54550530-54557193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54546361..54548104-chr6:54550298..54552036,2	MCF-7	breast:
2	chr6:54551257..54553977-chr6:54562035..54564580,2	MCF-7	breast:
3	chr6:54547491..54552528-chr6:54710025..54715322,6	MCF-7	breast:
4	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12205849	chr6:54550530-54550531	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561864740	chr6:54550546-54550547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9464118	chr6:54550550-54550551	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547393370	chr6:54550568-54550569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76521522	chr6:54550593-54550594	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540128302	chr6:54550661-54550662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533499305	chr6:54550670-54550671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117390199	chr6:54550688-54550689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372403031	chr6:54550723-54550724	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs6909103	chr6:54550755-54550756	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111565084	chr6:54550764-54550765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572929452	chr6:54550813-54550814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555967605	chr6:54550822-54550823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs79828241	chr6:54550830-54550831	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534665149	chr6:54550845-54550846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6909009	chr6:54550862-54550863	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs556630770	chr6:54550872-54550873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543380696	chr6:54550899-54550900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557207159	chr6:54550912-54550913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6913275	chr6:54550945-54550946	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542438551	chr6:54550982-54550983	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76569020	chr6:54550985-54550986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115262207	chr6:54551078-54551079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs77217405	chr6:54551102-54551103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34883381	chr6:54551124-54551125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs397751073	chr6:54551136-54551137	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564349458	chr6:54551137-54551138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1039496	chr6:54551142-54551143	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs1039495	chr6:54551145-54551146	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369101128	chr6:54551149-54551150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529564609	chr6:54551159-54551160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9474958	chr6:54551187-54551188	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115814910	chr6:54551195-54551196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182980951	chr6:54551201-54551202	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111621117	chr6:54551236-54551237	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534757367	chr6:54551237-54551238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547807015	chr6:54551257-54551258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187884823	chr6:54551307-54551308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs200087836	chr6:54551315-54551316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192998022	chr6:54551434-54551435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537067940	chr6:54551451-54551452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556657419	chr6:54551473-54551474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs12194292	chr6:54551475-54551476	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115458216	chr6:54551493-54551494	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552793428	chr6:54551513-54551514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572677221	chr6:54551523-54551524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543790196	chr6:54551573-54551574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144746032	chr6:54551574-54551575	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563638435	chr6:54551595-54551596	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578011679	chr6:54551609-54551610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Prostate cancer	18632612	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
Breast cancer	21785460	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54554000-54554800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr6:54554000-54555200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr6:54554400-54554600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:54554600-54554800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr6:54554600-54555000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr6:54554600-54555400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:54554800-54555600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:54554800-54556200	Enhancers	Stomach Mucosa	stomach
9	chr6:54556200-54557200	Weak transcription	Stomach Mucosa	stomach

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