Variant report

Variant	esv3504257
Chromosome Location	chr6:38719772-38720202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568413774	chr6:38719792-38719793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557915443	chr6:38719806-38719807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2654449	chr6:38719819-38719820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7742625	chr6:38719850-38719851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs78860889	chr6:38719881-38719882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547752166	chr6:38719886-38719887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376830245	chr6:38719890-38719891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190885039	chr6:38719943-38719944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180982691	chr6:38719944-38719945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146601417	chr6:38719957-38719958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569757237	chr6:38719979-38719980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547861549	chr6:38719980-38719981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186119487	chr6:38719984-38719985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558711441	chr6:38719987-38719988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370306635	chr6:38720020-38720021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369375524	chr6:38720026-38720027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572347407	chr6:38720032-38720033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190923115	chr6:38720060-38720061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554844462	chr6:38720062-38720063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574700448	chr6:38720086-38720087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543814945	chr6:38720101-38720102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563602769	chr6:38720157-38720158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147613299	chr6:38720167-38720168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182721529	chr6:38720168-38720169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565062363	chr6:38720175-38720176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527528550	chr6:38720198-38720199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	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
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38706200-38738600	Weak transcription	K562	blood
2	chr6:38719400-38722400	Weak transcription	HMEC	breast
3	chr6:38719400-38722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:38719800-38722800	Weak transcription	Fetal Kidney	kidney

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