Variant report

Variant	esv2337800
Chromosome Location	chr6:14745107-14745868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14744177..14745935-chr6:14757956..14760558,2	MCF-7	breast:
2	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
3	chr6:14726660..14728814-chr6:14743224..14745170,2	MCF-7	breast:
4	chr6:14743112..14746025-chr6:14761526..14763688,5	MCF-7	breast:
5	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:
6	chr6:14742689..14745266-chr6:15089259..15092488,3	MCF-7	breast:
7	chr6:14744452..14746852-chr6:14757567..14759305,2	K562	blood:

Variant related genes	Relation type
ENSG00000234261	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546354404	chr6:14745141-14745142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs71679823	chr6:14745196-14745197	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199765978	chr6:14745199-14745200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113580832	chr6:14745201-14745202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs567507460	chr6:14745208-14745209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560224658	chr6:14745261-14745262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58722731	chr6:14745282-14745283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76619417	chr6:14745286-14745287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553201461	chr6:14745291-14745292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186665592	chr6:14745352-14745353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569075992	chr6:14745555-14745556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189701887	chr6:14745597-14745598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368032681	chr6:14745693-14745694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200862145	chr6:14745695-14745696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201679030	chr6:14745696-14745697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368449124	chr6:14745697-14745698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538096229	chr6:14745722-14745723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551740860	chr6:14745759-14745760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183136047	chr6:14745812-14745813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76089599	chr6:14745832-14745833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372557575	chr6:14745843-14745844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:14742000-14745200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:14742000-14746000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:14743200-14745400	Enhancers	Stomach Mucosa	stomach
7	chr6:14743600-14767400	Weak transcription	Right Atrium	heart
8	chr6:14744200-14745200	Enhancers	HMEC	breast
9	chr6:14744200-14745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:14744200-14745800	Enhancers	NH-A	brain
11	chr6:14744200-14746000	Enhancers	NHEK	skin
12	chr6:14744200-14746600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:14744200-14747600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:14744200-14748000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:14744400-14746600	Enhancers	Hela-S3	cervix
16	chr6:14744600-14747400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:14744600-14747600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:14744600-14747800	Weak transcription	HSMM	muscle
19	chr6:14744600-14748200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:14744600-14748200	Weak transcription	GM12878-XiMat	blood
21	chr6:14744600-14748400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:14744600-14749600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:14744600-14749800	Weak transcription	HSMMtube	muscle
24	chr6:14744800-14748000	Weak transcription	Osteobl	bone
25	chr6:14744800-14749000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:14744800-14749000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:14745000-14747600	Weak transcription	Placenta	Placenta
28	chr6:14745000-14747800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:14745000-14762800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:14745200-14747600	Enhancers	Liver	Liver
31	chr6:14745200-14748600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr6:14745400-14745600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:14745400-14745800	Weak transcription	Stomach Mucosa	stomach
34	chr6:14745800-14746800	Enhancers	Stomach Mucosa	stomach

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