Variant report

Variant	esv1813954
Chromosome Location	chr6:54518364-54557296
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	chr6:54547491..54552528-chr6:54710025..54715322,6	MCF-7	breast:
3	chr6:54551257..54553977-chr6:54562035..54564580,2	MCF-7	breast:
4	chr6:54556132..54558033-chr6:54708676..54711461,2	MCF-7	breast:
5	chr6:54546361..54548104-chr6:54550298..54552036,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	chromatin interactions

Extended variants
information (count: 737 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373811307	chr6:54519037-54519038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534633395	chr6:54519045-54519046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558035542	chr6:54519085-54519086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577953381	chr6:54519124-54519125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375958410	chr6:54519147-54519148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543641394	chr6:54519268-54519269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556722421	chr6:54519274-54519275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71558894	chr6:54519311-54519312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542277718	chr6:54519318-54519319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201285694	chr6:54519324-54519325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2047828	chr6:54519350-54519351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs527639661	chr6:54519386-54519387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368188910	chr6:54519432-54519433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2134576	chr6:54519445-54519446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541337544	chr6:54519450-54519451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564427786	chr6:54519506-54519507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201407605	chr6:54519534-54519535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146673552	chr6:54519536-54519537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75198327	chr6:54519539-54519540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs5876392	chr6:54519540-54519541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2047829	chr6:54519541-54519542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71781081	chr6:54519549-54519550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569159051	chr6:54519567-54519568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533393404	chr6:54519575-54519576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145907874	chr6:54519651-54519652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569763633	chr6:54519670-54519671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528994742	chr6:54519740-54519741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2134577	chr6:54519744-54519745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548864829	chr6:54519745-54519746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549034669	chr6:54519769-54519770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148736529	chr6:54519896-54519897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565542408	chr6:54519923-54519924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191920004	chr6:54519929-54519930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138454041	chr6:54520033-54520034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562202085	chr6:54520040-54520041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537277179	chr6:54520041-54520042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183031099	chr6:54520043-54520044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188768422	chr6:54520050-54520051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558414472	chr6:54520053-54520054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541964795	chr6:54520058-54520059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35234792	chr6:54520095-54520096	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs36116131	chr6:54520127-54520128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572392277	chr6:54520146-54520147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541022098	chr6:54520158-54520159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193283077	chr6:54520210-54520211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368704987	chr6:54520288-54520289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184293521	chr6:54520311-54520312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563751484	chr6:54520392-54520393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372062556	chr6:54520405-54520406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540619674	chr6:54520415-54520416	Weak transcription Enhancers Flanking Active TSS	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54519000-54521200	Enhancers	Fetal Intestine Small	intestine
2	chr6:54519400-54520400	Enhancers	Fetal Kidney	kidney
3	chr6:54520000-54520400	Enhancers	Fetal Intestine Large	intestine
4	chr6:54520000-54520400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr6:54520400-54520600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr6:54520400-54520800	Weak transcription	Fetal Intestine Large	intestine
7	chr6:54520600-54521000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:54520800-54521400	Enhancers	Fetal Intestine Large	intestine
9	chr6:54521000-54521200	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr6:54529000-54531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:54529000-54531400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:54529200-54530000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:54529400-54530600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:54530000-54530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:54530000-54530400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:54530000-54530600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:54530200-54530600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:54530200-54530600	Enhancers	Fetal Intestine Small	intestine
19	chr6:54530400-54530600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:54530400-54531200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:54530600-54532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:54530600-54534200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:54532400-54532800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:54532800-54534600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:54538800-54539200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:54546200-54548200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:54546400-54548000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:54546400-54548200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:54546400-54548600	Enhancers	Hela-S3	cervix
30	chr6:54546600-54547200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:54546600-54547400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr6:54546600-54547400	Enhancers	NHLF	lung
33	chr6:54546600-54547400	Enhancers	Osteobl	bone
34	chr6:54547000-54548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:54554000-54554800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr6:54554000-54555200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr6:54554400-54554600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:54554600-54554800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr6:54554600-54555000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr6:54554600-54555400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:54554800-54555600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:54554800-54556200	Enhancers	Stomach Mucosa	stomach
43	chr6:54556200-54557200	Weak transcription	Stomach Mucosa	stomach
44	chr6:54557200-54557600	Enhancers	Stomach Mucosa	stomach

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