Variant report

Variant	esv3381837
Chromosome Location	chr6:53620929-53621402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53617028..53618727-chr6:53619608..53622037,2	K562	blood:
2	chr6:53618170..53621877-chr6:53658414..53662232,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137269	chromatin interactions
ENSG00000228614	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543162866	chr6:53621020-53621021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149899390	chr6:53621037-53621038	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377434114	chr6:53621070-53621071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs528750537	chr6:53621087-53621088	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs10456166	chr6:53621099-53621100	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182212810	chr6:53621133-53621134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs34134416	chr6:53621142-53621143	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs9463973	chr6:53621255-53621256	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570937037	chr6:53621269-53621270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146470683	chr6:53621284-53621285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs10456167	chr6:53621295-53621296	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53601600-53638000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:53618200-53630200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:53618800-53635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:53619400-53633400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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