Variant report

Variant	esv3385303
Chromosome Location	chr6:38821376-38821837
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	chr6:38819628..38821796-chr6:38823200..38825127,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 94 )

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	rs189011462	chr6:38821391-38821392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112470129	chr6:38821398-38821399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147843227	chr6:38821399-38821400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72852705	chr6:38821418-38821419	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs193149277	chr6:38821436-38821437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80027868	chr6:38821471-38821472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529191956	chr6:38821492-38821493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548661987	chr6:38821508-38821509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568877158	chr6:38821535-38821536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540377796	chr6:38821570-38821571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117951146	chr6:38821594-38821595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117624633	chr6:38821666-38821667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141292255	chr6:38821677-38821678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115219531	chr6:38821698-38821699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554366341	chr6:38821716-38821717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75930745	chr6:38821723-38821724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145032224	chr6:38821737-38821738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375525499	chr6:38821744-38821745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9357285	chr6:38821752-38821753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576073209	chr6:38821753-38821754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545084862	chr6:38821766-38821767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138297793	chr6:38821786-38821787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371568318	chr6:38821801-38821802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376690557	chr6:38821802-38821803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556090853	chr6:38821814-38821815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72852707	chr6:38821816-38821817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Glioblastoma multiforme	21510904	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38766800-38824400	Weak transcription	K562	blood
2	chr6:38821000-38821400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:38821000-38821600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:38821000-38821600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:38821000-38821600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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