Variant report

Variant	esv3347118
Chromosome Location	chr6:34178428-34179068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34172543..34174818-chr6:34176549..34178504,2	K562	blood:
2	chr6:34160739..34183165-chr6:34199874..34216980,124	K562	blood:
3	chr6:34131628..34132318-chr6:34178038..34178559,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137309	chromatin interactions
ENSG00000186577	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188143655	chr6:34178464-34178465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565181411	chr6:34178465-34178466	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs180686322	chr6:34178474-34178475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370030036	chr6:34178499-34178500	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs185119140	chr6:34178502-34178503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373175831	chr6:34178515-34178516	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10807136	chr6:34178558-34178559	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138997002	chr6:34178593-34178594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191296658	chr6:34178621-34178622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs551746052	chr6:34178757-34178758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28673163	chr6:34178764-34178765	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561011353	chr6:34178855-34178856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531794785	chr6:34178856-34178857	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549912922	chr6:34178861-34178862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571951858	chr6:34178866-34178867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181357213	chr6:34178902-34178903	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547399901	chr6:34178923-34178924	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28682332	chr6:34178928-34178929	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs536642454	chr6:34178939-34178940	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs565562952	chr6:34179009-34179010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536221739	chr6:34179012-34179013	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs376662873	chr6:34179034-34179035	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs554715156	chr6:34179055-34179056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371516158	chr6:34179063-34179064	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
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
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
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
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34176000-34180200	Weak transcription	K562	blood
2	chr6:34176200-34190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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