Variant report

Variant	esv3472170
Chromosome Location	chr6:14739324-14741098
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	chr6:14740809..14742542-chr6:14742789..14745610,2	K562	blood:
2	chr6:14740647..14742525-chr6:15245133..15247117,2	MCF-7	breast:
3	chr6:14739993..14742172-chr6:14742805..14745724,2	MCF-7	breast:
4	chr6:14737129..14739512-chr6:15065575..15068395,2	MCF-7	breast:
5	chr6:14739721..14742371-chr6:14745948..14748860,2	K562	blood:
6	chr6:14732242..14735089-chr6:14738711..14742750,5	MCF-7	breast:
7	chr6:14734009..14737295-chr6:14739247..14741023,4	K562	blood:
8	chr6:14737789..14739635-chr6:15244382..15247165,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271888	chromatin interactions
ENSG00000008083	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6459373	chr6:14739335-14739336	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557666171	chr6:14739348-14739349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568948272	chr6:14739351-14739352	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538089635	chr6:14739353-14739354	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573927444	chr6:14739394-14739395	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558060235	chr6:14739408-14739409	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571604003	chr6:14739420-14739421	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116709691	chr6:14739448-14739449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553375260	chr6:14739487-14739488	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140225435	chr6:14739523-14739524	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536734492	chr6:14739526-14739527	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541920290	chr6:14739530-14739531	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555872500	chr6:14739641-14739642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201958792	chr6:14739665-14739666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11324420	chr6:14739666-14739667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398000562	chr6:14739667-14739668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111312806	chr6:14739674-14739675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368436895	chr6:14739719-14739720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144010334	chr6:14739798-14739799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12215951	chr6:14739809-14739810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191814607	chr6:14739868-14739869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112044834	chr6:14739891-14739892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58028731	chr6:14739892-14739893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540757487	chr6:14739905-14739906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540525918	chr6:14739929-14739930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201889474	chr6:14739935-14739936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs25633	chr6:14739936-14739937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200089034	chr6:14739939-14739940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199692906	chr6:14739941-14739942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs398000563	chr6:14739943-14739944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559850639	chr6:14739968-14739969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528924102	chr6:14739975-14739976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556106320	chr6:14739980-14739981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9382996	chr6:14739982-14739983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541656268	chr6:14740040-14740041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568960311	chr6:14740049-14740050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531389245	chr6:14740082-14740083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551568831	chr6:14740104-14740105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564500571	chr6:14740108-14740109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533500932	chr6:14740119-14740120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115644360	chr6:14740129-14740130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369085475	chr6:14740150-14740151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9476645	chr6:14740167-14740168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554117818	chr6:14740182-14740183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566745141	chr6:14740222-14740223	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201900824	chr6:14740247-14740248	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143108786	chr6:14740265-14740266	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559679952	chr6:14740325-14740326	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184074999	chr6:14740345-14740346	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2472792	chr6:14740348-14740349	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14728200-14740000	Enhancers	Fetal Thymus	thymus
2	chr6:14729400-14743400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:14730000-14740400	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:14730200-14758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:14730600-14740200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:14731200-14740200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:14733000-14740400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:14733200-14743400	Weak transcription	Esophagus	oesophagus
9	chr6:14734000-14750600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:14735000-14742000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:14735400-14740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:14735600-14740600	Weak transcription	NHEK	skin
13	chr6:14735800-14742800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:14735800-14742800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:14736000-14742200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:14736000-14742200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:14736400-14741800	Weak transcription	HMEC	breast
18	chr6:14737400-14758600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:14737600-14743600	Weak transcription	Spleen	Spleen
20	chr6:14738000-14742200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr6:14738200-14740000	Enhancers	Primary B cells from cord blood	blood
22	chr6:14738400-14739800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr6:14738400-14740000	Enhancers	Primary T cells from cord blood	blood
24	chr6:14738600-14739600	Enhancers	K562	blood
25	chr6:14738600-14740000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:14738800-14739400	Enhancers	NHDF-Ad	bronchial
27	chr6:14738800-14739600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr6:14738800-14739600	Enhancers	Thymus	Thymus
29	chr6:14739000-14739600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:14739000-14739800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr6:14739200-14739600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:14739200-14739800	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr6:14739200-14740400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr6:14739400-14742600	Weak transcription	NHDF-Ad	bronchial
35	chr6:14739600-14740400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:14739600-14742800	Weak transcription	K562	blood
37	chr6:14739600-14743000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:14739600-14743200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:14739600-14744000	Weak transcription	Thymus	Thymus
40	chr6:14739800-14743400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:14740000-14740200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:14740000-14742200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr6:14740000-14743600	Weak transcription	Primary T cells from cord blood	blood
44	chr6:14740000-14743600	Weak transcription	Fetal Thymus	thymus
45	chr6:14740200-14740400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:14740200-14743600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:14740400-14740800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:14740400-14740800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr6:14740400-14742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:14740400-14743800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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