Variant report

Variant	esv3321925
Chromosome Location	chr6:32346624-32347872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9268436	chr6:32346637-32346638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs34588018	chr6:32346661-32346662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564024810	chr6:32346662-32346663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533002231	chr6:32346663-32346664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9268439	chr6:32346701-32346702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs561500498	chr6:32346728-32346729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529381400	chr6:32346736-32346737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3129946	chr6:32346772-32346773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115593412	chr6:32346785-32346786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1980495	chr6:32346794-32346795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142207772	chr6:32346817-32346818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143135498	chr6:32346851-32346852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547992029	chr6:32346915-32346916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553783143	chr6:32346960-32346961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1980494	chr6:32347016-32347017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs187415413	chr6:32347017-32347018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535242268	chr6:32347036-32347037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200411589	chr6:32347071-32347072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369832689	chr6:32347095-32347096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201754111	chr6:32347151-32347152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556996120	chr6:32347210-32347211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568793969	chr6:32347222-32347223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557303486	chr6:32347310-32347311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567480892	chr6:32347326-32347327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28895023	chr6:32347338-32347339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555185936	chr6:32347508-32347509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190629230	chr6:32347599-32347600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529041700	chr6:32347629-32347630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56673349	chr6:32347637-32347638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545420797	chr6:32347661-32347662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9268446	chr6:32347749-32347750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs148233867	chr6:32347792-32347793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9268447	chr6:32347831-32347832	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:124)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
Ovarian cancer	21781307	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32342800-32355200	Weak transcription	Stomach Mucosa	stomach
2	chr6:32344000-32361400	Weak transcription	Fetal Stomach	stomach
3	chr6:32345800-32355000	Weak transcription	Duodenum Mucosa	Duodenum

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