Variant report

Variant	esv1816331
Chromosome Location	chr6:32330153-32331998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9268326	chr6:32330153-32330154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529383076	chr6:32330156-32330157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118043414	chr6:32330163-32330164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9268327	chr6:32330164-32330165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6905601	chr6:32330168-32330169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9268329	chr6:32330174-32330175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185726259	chr6:32330208-32330209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9268330	chr6:32330306-32330307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs570193464	chr6:32330319-32330320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537242842	chr6:32330325-32330326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117966098	chr6:32330339-32330340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28366184	chr6:32330351-32330352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs7744155	chr6:32330430-32330431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3129912	chr6:32330477-32330478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs571962267	chr6:32330497-32330498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191678025	chr6:32330530-32330531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554840557	chr6:32330542-32330543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576205968	chr6:32330576-32330577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369539149	chr6:32330613-32330614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9268333	chr6:32330651-32330652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6457553	chr6:32330695-32330696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs3117112	chr6:32330705-32330706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs147657535	chr6:32330761-32330762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386699295	chr6:32330766-32330767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2223637	chr6:32330768-32330769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs542202824	chr6:32330774-32330775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569286774	chr6:32330799-32330800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148745303	chr6:32330813-32330814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560662576	chr6:32330841-32330842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375007610	chr6:32330857-32330858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535106868	chr6:32330891-32330892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6415128	chr6:32330894-32330895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs570687167	chr6:32330913-32330914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6415129	chr6:32330937-32330938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs2894250	chr6:32331002-32331003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs183399345	chr6:32331011-32331012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142318817	chr6:32331038-32331039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4711294	chr6:32331062-32331063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6934200	chr6:32331069-32331070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537313436	chr6:32331135-32331136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140541535	chr6:32331143-32331144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188844005	chr6:32331147-32331148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58600087	chr6:32331176-32331177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2223636	chr6:32331209-32331210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150489915	chr6:32331221-32331222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542188774	chr6:32331238-32331239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11967259	chr6:32331283-32331284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs11967263	chr6:32331300-32331301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs17202120	chr6:32331305-32331306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564352204	chr6:32331356-32331357	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32325600-32332600	Weak transcription	Hela-S3	cervix

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