Variant report

Variant	esv3432462
Chromosome Location	chr6:32280930-32287047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 209 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74209703	chr6:32281016-32281017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34838815	chr6:32281042-32281043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34729596	chr6:32281044-32281045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534724164	chr6:32281086-32281087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527541993	chr6:32281087-32281088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542503108	chr6:32281143-32281144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561125668	chr6:32281147-32281148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531726379	chr6:32281150-32281151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185535670	chr6:32281165-32281166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370135497	chr6:32281179-32281180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2021905	chr6:32281201-32281202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370855327	chr6:32281229-32281230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189437217	chr6:32281259-32281260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182087255	chr6:32281308-32281309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374278326	chr6:32281341-32281342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185233044	chr6:32281342-32281343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1018434	chr6:32281360-32281361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs142121401	chr6:32281389-32281390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189988295	chr6:32281409-32281410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28366179	chr6:32281412-32281413	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139331886	chr6:32281446-32281447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144094035	chr6:32281465-32281466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371559634	chr6:32281468-32281469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1018433	chr6:32281510-32281511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs200326143	chr6:32281513-32281514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572289321	chr6:32281516-32281517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201620532	chr6:32281534-32281535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542891581	chr6:32281575-32281576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560952483	chr6:32281587-32281588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs3864303	chr6:32281621-32281622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs371841497	chr6:32281627-32281628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565046736	chr6:32281673-32281674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386699276	chr6:32281674-32281675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1018431	chr6:32281676-32281677	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1018430	chr6:32281688-32281689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572476332	chr6:32281824-32281825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530364638	chr6:32281836-32281837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9268212	chr6:32281889-32281890	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371615633	chr6:32281914-32281915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2069026	chr6:32281958-32281959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs6903871	chr6:32282019-32282020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547261	chr6:32282033-32282034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs11966368	chr6:32282036-32282037	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs181142031	chr6:32282040-32282041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553520773	chr6:32282053-32282054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2395141	chr6:32282068-32282069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs9268213	chr6:32282081-32282082	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554861323	chr6:32282092-32282093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186461124	chr6:32282110-32282111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114797575	chr6:32282188-32282189	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
Ependymoma	19289631	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
Melanoma	17363583	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
Urothelial carcinoma	21177765	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32275800-32281400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:32281400-32282800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:32281600-32282200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:32282800-32288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:32284000-32285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:32284000-32286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:32284600-32284800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:32284800-32285000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:32285000-32286200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:32285200-32286000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:32285400-32285800	Enhancers	K562	blood
12	chr6:32285600-32286000	Enhancers	Primary hematopoietic stem cells	blood
13	chr6:32286000-32286200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:32286000-32286600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:32286000-32286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:32286200-32286800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:32286200-32294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:32286400-32286800	Enhancers	HUES48 Cell Line	embryonic stem cell

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