Variant report

Variant	esv3337459
Chromosome Location	chr6:27270479-27271061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27266213..27267894-chr6:27269235..27271066,2	K562	blood:
2	chr6:27258656..27261261-chr6:27270962..27272747,2	K562	blood:
3	chr6:27269186..27270845-chr6:27275769..27278192,2	K562	blood:
4	chr6:27267639..27271310-chr6:27281448..27285145,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193014306	chr6:27270484-27270485	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140119799	chr6:27270557-27270558	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537318288	chr6:27270563-27270564	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113631510	chr6:27270575-27270576	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373219173	chr6:27270576-27270577	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs369676877	chr6:27270577-27270578	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557611270	chr6:27270587-27270588	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs527879231	chr6:27270593-27270594	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542802992	chr6:27270646-27270647	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143734985	chr6:27270702-27270703	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567908740	chr6:27270707-27270708	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs145770300	chr6:27270730-27270731	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545391004	chr6:27270747-27270748	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs565096662	chr6:27270748-27270749	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs558740967	chr6:27270754-27270755	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs533281667	chr6:27270758-27270759	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs543382740	chr6:27270777-27270778	Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs185203064	chr6:27270876-27270877	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148527163	chr6:27270890-27270891	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549197182	chr6:27270896-27270897	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200449661	chr6:27270904-27270905	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189704935	chr6:27270906-27270907	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528152731	chr6:27270942-27270943	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9468037	chr6:27270961-27270962	Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538282490	chr6:27271019-27271020	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553815139	chr6:27271022-27271023	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537033610	chr6:27271025-27271026	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs151025953	chr6:27271034-27271035	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27269600-27270800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:27270400-27271600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:27270400-27271600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:27270800-27271400	Active TSS	NHEK	skin
5	chr6:27270800-27271600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:27271000-27271600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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