Variant report

Variant	esv1812631
Chromosome Location	chr6:54553942-54557193
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	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:
2	chr6:54551257..54553977-chr6:54562035..54564580,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376692394	chr6:54554030-54554031	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs531669316	chr6:54554062-54554063	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs17446535	chr6:54554082-54554083	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185933891	chr6:54554104-54554105	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs12196807	chr6:54554155-54554156	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190805812	chr6:54554161-54554162	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566876764	chr6:54554172-54554173	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs11753461	chr6:54554180-54554181	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs1395624	chr6:54554214-54554215	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201208737	chr6:54554266-54554267	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552324662	chr6:54554282-54554283	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79638715	chr6:54554307-54554308	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs538194091	chr6:54554326-54554327	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs377517738	chr6:54554334-54554335	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs554833905	chr6:54554344-54554345	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs574750512	chr6:54554371-54554372	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs555477751	chr6:54554416-54554417	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs534128769	chr6:54554430-54554431	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs116389963	chr6:54554444-54554445	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576879591	chr6:54554446-54554447	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs537253960	chr6:54554453-54554454	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs62414272	chr6:54554494-54554495	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs4715468	chr6:54554502-54554503	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs373798829	chr6:54554520-54554521	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2089411	chr6:54554627-54554628	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139455541	chr6:54554665-54554666	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs80170592	chr6:54554676-54554677	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs553227494	chr6:54554685-54554686	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs111826127	chr6:54554686-54554687	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs58010645	chr6:54554693-54554694	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77313317	chr6:54554728-54554729	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs77162107	chr6:54554729-54554730	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs532528782	chr6:54554730-54554731	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs552638136	chr6:54554756-54554757	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs57961192	chr6:54554971-54554972	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs62414273	chr6:54554983-54554984	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs531606008	chr6:54554985-54554986	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs548132116	chr6:54554988-54554989	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs183165252	chr6:54554997-54554998	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534187212	chr6:54555004-54555005	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs554103764	chr6:54555032-54555033	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs386701316	chr6:54555034-54555035	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs6906010	chr6:54555036-54555037	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187078798	chr6:54555055-54555056	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs576162590	chr6:54555057-54555058	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs541872356	chr6:54555066-54555067	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs35030193	chr6:54555115-54555116	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs2894821	chr6:54555116-54555117	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541298029	chr6:54555139-54555140	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs571515530	chr6:54555203-54555204	Enhancers Bivalent Enhancer	n/a	n/a	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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