Variant report

Variant	esv3384469
Chromosome Location	chr6:139843133-139843559
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:139842023..139844325-chr6:139853923..139855853,2	K562	blood:
2	chr6:139841309..139844130-chr6:140279796..140281485,2	K562	blood:
3	chr6:139836503..139839268-chr6:139841620..139844665,3	K562	blood:
4	chr6:139840112..139843143-chr6:139848292..139853200,4	K562	blood:
5	chr6:139693301..139695661-chr6:139842764..139846349,4	K562	blood:
6	chr6:139839378..139842332-chr6:139842713..139845287,3	K562	blood:
7	chr6:139841605..139843339-chr6:139847235..139850097,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71549044	chr6:139843186-139843187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs666350	chr6:139843192-139843193	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138340907	chr6:139843206-139843207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs5880431	chr6:139843219-139843220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60379992	chr6:139843231-139843232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534703410	chr6:139843270-139843271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553282258	chr6:139843279-139843280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574855733	chr6:139843286-139843287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542273432	chr6:139843311-139843312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563759849	chr6:139843312-139843313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575794079	chr6:139843316-139843317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140560358	chr6:139843324-139843325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs635243	chr6:139843350-139843351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528749091	chr6:139843352-139843353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183642110	chr6:139843364-139843365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559268517	chr6:139843369-139843370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145547187	chr6:139843371-139843372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56225356	chr6:139843396-139843397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548244776	chr6:139843411-139843412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569796961	chr6:139843414-139843415	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536837876	chr6:139843431-139843432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187418887	chr6:139843445-139843446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190639422	chr6:139843473-139843474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567573221	chr6:139843520-139843521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34538091	chr6:139843555-139843556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139832000-139855200	Weak transcription	Right Atrium	heart
2	chr6:139837000-139843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:139837000-139843600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:139837000-139843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:139837000-139843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:139838000-139844000	Weak transcription	Hela-S3	cervix
7	chr6:139840400-139844400	Enhancers	NHEK	skin
8	chr6:139840400-139844800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:139840800-139855200	Weak transcription	Pancreas	Pancrea
10	chr6:139841000-139844800	Enhancers	HMEC	breast
11	chr6:139841000-139854600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:139841400-139843400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:139841400-139843600	Weak transcription	Adipose Nuclei	Adipose
14	chr6:139841400-139843600	Weak transcription	Esophagus	oesophagus
15	chr6:139841400-139843600	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:139841400-139843600	Weak transcription	Lung	lung
17	chr6:139841400-139843600	Weak transcription	Osteobl	bone
18	chr6:139841400-139843800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:139841600-139843400	Weak transcription	Placenta	Placenta
20	chr6:139841600-139843600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:139841600-139843600	Weak transcription	Fetal Heart	heart
22	chr6:139841600-139849400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr6:139841600-139853000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:139841800-139843600	Weak transcription	NHDF-Ad	bronchial
25	chr6:139842000-139846200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:139842600-139854800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:139842600-139861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:139842800-139843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:139842800-139843600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:139843400-139843800	Enhancers	Placenta	Placenta
31	chr6:139843400-139844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:139843400-139844400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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