Variant report

Variant	esv20357
Chromosome Location	chr6:26949088-26968511
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	chr6:26962343..26965289-chr6:26986491..26988275,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238621	chromatin interactions
ENSG00000224843	chromatin interactions

Extended variants
information (count: 368 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530136194	chr6:26953000-26953001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549000571	chr6:26953123-26953124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376999623	chr6:26953157-26953158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376524131	chr6:26953178-26953179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534611167	chr6:26953189-26953190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569935454	chr6:26953274-26953275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551112863	chr6:26953282-26953283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142050396	chr6:26953305-26953306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536735771	chr6:26953394-26953395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557051024	chr6:26953415-26953416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567150257	chr6:26953489-26953490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536285733	chr6:26953496-26953497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6910264	chr6:26953545-26953546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs573531980	chr6:26953552-26953553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545736310	chr6:26953553-26953554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559159974	chr6:26953561-26953562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376158176	chr6:26953591-26953592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190923551	chr6:26953658-26953659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544357115	chr6:26953763-26953764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571659538	chr6:26953854-26953855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2393823	chr6:26954016-26954017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs540578199	chr6:26954067-26954068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560115364	chr6:26954075-26954076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528336794	chr6:26954121-26954122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186966506	chr6:26954209-26954210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571090399	chr6:26954279-26954280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530783263	chr6:26954374-26954375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540739910	chr6:26954379-26954380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190064837	chr6:26954445-26954446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114271649	chr6:26954456-26954457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535969794	chr6:26954539-26954540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112109105	chr6:26954556-26954557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552977295	chr6:26954587-26954588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6916596	chr6:26954634-26954635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569967765	chr6:26954691-26954692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3873208	chr6:26954740-26954741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539323053	chr6:26954747-26954748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559320576	chr6:26954874-26954875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575905299	chr6:26955036-26955037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186462356	chr6:26955120-26955121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554764530	chr6:26955121-26955122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377355109	chr6:26955146-26955147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370931287	chr6:26955147-26955148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373761084	chr6:26955153-26955154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377591799	chr6:26955155-26955156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142527583	chr6:26955178-26955179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113923853	chr6:26955179-26955180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576284813	chr6:26955189-26955190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191361835	chr6:26955239-26955240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565280180	chr6:26955246-26955247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26953000-26953400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:26953000-26953600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:26953600-26966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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