Variant report

Variant	esv3350146
Chromosome Location	chr6:49598613-49599185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:49594451..49596116-chr6:49596497..49599032,2	MCF-7	breast:
2	chr6:49577238..49581324-chr6:49598610..49601662,4	K562	blood:
3	chr6:49573725..49575283-chr6:49596701..49599467,2	K562	blood:
4	chr6:49507016..49509711-chr6:49598070..49600380,2	K562	blood:
5	chr6:49597656..49601236-chr6:49815948..49819528,4	K562	blood:
6	chr6:49598590..49600136-chr6:49605840..49607595,2	MCF-7	breast:
7	chr6:49592846..49594698-chr6:49596722..49599418,2	K562	blood:
8	chr6:49598560..49602182-chr6:49807769..49810725,3	K562	blood:

No data

Extended variants
information (count: 23 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542792106	chr6:49598615-49598616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs116728679	chr6:49598641-49598642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571708753	chr6:49598642-49598643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572913551	chr6:49598664-49598665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs141651430	chr6:49598678-49598679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs376933991	chr6:49598733-49598734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs190753757	chr6:49598763-49598764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2180722	chr6:49598769-49598770	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545640650	chr6:49598791-49598792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563540179	chr6:49598799-49598800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531002758	chr6:49598809-49598810	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2180723	chr6:49598810-49598811	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368792840	chr6:49598824-49598825	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567406481	chr6:49598838-49598839	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs2145331	chr6:49598877-49598878	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536385053	chr6:49598904-49598905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs150756731	chr6:49598912-49598913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs374164433	chr6:49598926-49598927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs571578045	chr6:49598940-49598941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139092136	chr6:49599092-49599093	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114495190	chr6:49599097-49599098	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs569113080	chr6:49599112-49599113	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553973987	chr6:49599157-49599158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49591000-49599400	ZNF genes & repeats	K562	blood
2	chr6:49596800-49603800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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