Variant report

Variant	esv3375769
Chromosome Location	chr6:38278369-38278647
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	chr6:38275306..38278894-chr6:38287022..38290918,3	MCF-7	breast:
2	chr6:38277946..38279644-chr6:38359626..38361266,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12524225	chr6:38278417-38278418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543315513	chr6:38278423-38278424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563213156	chr6:38278451-38278452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188852804	chr6:38278452-38278453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545712823	chr6:38278470-38278471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545773411	chr6:38278480-38278481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528625573	chr6:38278481-38278482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201305715	chr6:38278484-38278485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375432942	chr6:38278510-38278511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148537172	chr6:38278552-38278553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112925381	chr6:38278569-38278570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200314411	chr6:38278570-38278571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542674813	chr6:38278575-38278576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544866899	chr6:38278579-38278580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201722881	chr6:38278602-38278603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562401410	chr6:38278608-38278609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562074977	chr6:38278609-38278610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180676550	chr6:38278610-38278611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540156364	chr6:38278618-38278619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553557085	chr6:38278647-38278648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38274400-38288600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:38275400-38301200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:38276000-38286200	Weak transcription	Primary T cells from cord blood	blood
4	chr6:38276000-38287600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:38276000-38287800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:38276200-38286800	Weak transcription	HSMMtube	muscle
7	chr6:38277600-38278400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:38277800-38278800	Enhancers	Psoas Muscle	Psoas
9	chr6:38277800-38279000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:38278000-38310600	Weak transcription	Gastric	stomach
11	chr6:38278200-38283000	Weak transcription	GM12878-XiMat	blood
12	chr6:38278200-38288000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:38278200-38295000	Weak transcription	Lung	lung
14	chr6:38278400-38305400	Weak transcription	Pancreas	Pancrea

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