Variant report

Variant	esv1816245
Chromosome Location	chr6:32345443-32349086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2894252	chr6:32345443-32345444	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117966254	chr6:32345447-32345448	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9268431	chr6:32345514-32345515	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs2894253	chr6:32345540-32345541	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558081261	chr6:32345576-32345577	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567463021	chr6:32345588-32345589	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2395153	chr6:32345595-32345596	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs534759434	chr6:32345603-32345604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9268432	chr6:32345667-32345668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs541481077	chr6:32345697-32345698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563246238	chr6:32345747-32345748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575458373	chr6:32345749-32345750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546067535	chr6:32345763-32345764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2395154	chr6:32345776-32345777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs557728728	chr6:32345857-32345858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9268433	chr6:32345891-32345892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs184251171	chr6:32345992-32345993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9501619	chr6:32346075-32346076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189064743	chr6:32346089-32346090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550703524	chr6:32346119-32346120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117146138	chr6:32346129-32346130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141111765	chr6:32346195-32346196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564478708	chr6:32346197-32346198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576676243	chr6:32346207-32346208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72843270	chr6:32346213-32346214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145158207	chr6:32346280-32346281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62402699	chr6:32346388-32346389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544376260	chr6:32346407-32346408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565188555	chr6:32346408-32346409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555965517	chr6:32346413-32346414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9268434	chr6:32346452-32346453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs9268435	chr6:32346491-32346492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs147587211	chr6:32346616-32346617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575173526	chr6:32346621-32346622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9268436	chr6:32346637-32346638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs34588018	chr6:32346661-32346662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564024810	chr6:32346662-32346663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533002231	chr6:32346663-32346664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9268439	chr6:32346701-32346702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs561500498	chr6:32346728-32346729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529381400	chr6:32346736-32346737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3129946	chr6:32346772-32346773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115593412	chr6:32346785-32346786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1980495	chr6:32346794-32346795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs142207772	chr6:32346817-32346818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143135498	chr6:32346851-32346852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547992029	chr6:32346915-32346916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553783143	chr6:32346960-32346961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1980494	chr6:32347016-32347017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs187415413	chr6:32347017-32347018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:8 , 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	chr6:32344200-32345800	Enhancers	Fetal Intestine Large	intestine
4	chr6:32344200-32345800	Enhancers	Fetal Intestine Small	intestine
5	chr6:32344200-32346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:32345200-32345600	Active TSS	Duodenum Mucosa	Duodenum
7	chr6:32345600-32345800	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:32345800-32355000	Weak transcription	Duodenum Mucosa	Duodenum

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