Variant report

Variant	esv3430547
Chromosome Location	chr6:15444773-15448671
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15244896..15247781-chr6:15446382..15448441,2	MCF-7	breast:
2	chr6:15443726..15445264-chr6:15445305..15447149,2	MCF-7	breast:
3	chr6:15443449..15445507-chr6:15447782..15449288,2	MCF-7	breast:
4	chr6:15247352..15250079-chr6:15442928..15444916,2	MCF-7	breast:
5	chr6:15265185..15267250-chr6:15444212..15446754,2	K562	blood:
6	chr6:15446921..15448738-chr6:15452491..15454200,2	MCF-7	breast:
7	chr6:15443507..15446694-chr6:15446706..15448980,3	MCF-7	breast:
8	chr6:15443507..15446694-chr6:15446706..15448980,3	MCF-7	breast:
9	chr6:15445585..15449236-chr6:15452197..15455366,5	MCF-7	breast:
10	chr6:15443726..15445264-chr6:15445305..15447149,2	MCF-7	breast:
11	chr6:15445515..15448315-chr6:15457495..15459550,2	MCF-7	breast:
12	chr6:15446478..15449209-chr6:15454925..15456777,2	K562	blood:
13	chr6:15443449..15445507-chr6:15447782..15449288,2	MCF-7	breast:
14	chr6:15245540..15247199-chr6:15445254..15446807,2	MCF-7	breast:
15	chr6:15246444..15249297-chr6:15442871..15445277,2	K562	blood:
16	chr6:15444974..15446606-chr6:15481523..15484287,2	K562	blood:
17	chr6:15211327..15214253-chr6:15443742..15445346,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000008083	chromatin interactions
ENSG00000235488	chromatin interactions
ENSG00000271888	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537323071	chr6:15444788-15444789	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62395396	chr6:15444842-15444843	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs35141256	chr6:15444844-15444845	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537278978	chr6:15444909-15444910	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556613265	chr6:15444921-15444922	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377351687	chr6:15444961-15444962	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs59731802	chr6:15444967-15444968	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201170945	chr6:15444974-15444975	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576507271	chr6:15444975-15444976	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs398000601	chr6:15444988-15444989	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545340587	chr6:15445039-15445040	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565147606	chr6:15445067-15445068	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs572374423	chr6:15445070-15445071	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541349263	chr6:15445084-15445085	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs139102160	chr6:15445150-15445151	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182422825	chr6:15445164-15445165	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543702944	chr6:15445172-15445173	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563345460	chr6:15445176-15445177	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532114947	chr6:15445211-15445212	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552116836	chr6:15445215-15445216	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76418994	chr6:15445236-15445237	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs3846950	chr6:15445239-15445240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528120010	chr6:15445319-15445320	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548486554	chr6:15445400-15445401	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs568405322	chr6:15445499-15445500	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537249392	chr6:15445501-15445502	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143115424	chr6:15445512-15445513	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376154425	chr6:15445534-15445535	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186707977	chr6:15445549-15445550	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558886279	chr6:15445560-15445561	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529506960	chr6:15445566-15445567	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147450564	chr6:15445570-15445571	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148512398	chr6:15445571-15445572	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142001809	chr6:15445606-15445607	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191907310	chr6:15445648-15445649	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543953073	chr6:15445677-15445678	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs34193961	chr6:15445754-15445755	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563743370	chr6:15445780-15445781	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2237142	chr6:15445799-15445800	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545557604	chr6:15445803-15445804	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559523804	chr6:15445919-15445920	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs528084677	chr6:15445922-15445923	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184203987	chr6:15445928-15445929	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs144825148	chr6:15445949-15445950	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568314821	chr6:15445969-15445970	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187794453	chr6:15445998-15445999	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550719107	chr6:15446029-15446030	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2237141	chr6:15446037-15446038	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539648396	chr6:15446069-15446070	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73724408	chr6:15446113-15446114	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:105)

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
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
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15417000-15452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:15425600-15445400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:15427000-15450800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:15429200-15446000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:15435000-15448000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:15435800-15445400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:15435800-15446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:15435800-15453600	Weak transcription	Fetal Intestine Small	intestine
9	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
10	chr6:15436000-15447000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:15439000-15458000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:15439200-15450200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:15439400-15444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:15439400-15446000	Enhancers	Adipose Nuclei	Adipose
15	chr6:15439600-15445800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:15439600-15448200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:15440000-15445800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:15440000-15449400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:15440000-15468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:15440600-15445800	Weak transcription	Esophagus	oesophagus
21	chr6:15440600-15446400	Weak transcription	Gastric	stomach
22	chr6:15440600-15448200	Weak transcription	Thymus	Thymus
23	chr6:15440600-15454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:15441000-15444800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:15441400-15446000	Enhancers	Liver	Liver
26	chr6:15441600-15445600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:15441600-15446400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr6:15441600-15447000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:15441600-15451800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:15441600-15452200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:15441600-15452200	Weak transcription	Dnd41	blood
32	chr6:15441600-15453600	Weak transcription	HSMM	muscle
33	chr6:15441800-15446400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:15441800-15447000	Weak transcription	Primary T cells from cord blood	blood
35	chr6:15441800-15448000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr6:15441800-15449400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:15442000-15445200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr6:15442000-15445600	Weak transcription	Primary B cells from cord blood	blood
39	chr6:15442200-15446600	Enhancers	Brain Substantia Nigra	brain
40	chr6:15442200-15451400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:15442400-15444800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:15442400-15446200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr6:15442400-15446600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:15442600-15445800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr6:15442600-15446000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:15442600-15446400	Enhancers	HMEC	breast
47	chr6:15442600-15449600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:15442800-15445400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:15442800-15445400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:15442800-15445400	Enhancers	NH-A	brain

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