Variant report

Variant	esv3368142
Chromosome Location	chr6:149764359-149767257
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	chr6:149762143..149764363-chr6:149765543..149768268,2	K562	blood:
2	chr6:149757368..149759713-chr6:149765073..149766703,2	K562	blood:
3	chr6:149353960..149356786-chr6:149766378..149768113,2	MCF-7	breast:
4	chr6:149763319..149765484-chr6:149839894..149842239,2	MCF-7	breast:
5	chr6:149762143..149764363-chr6:149765543..149768268,2	K562	blood:
6	chr6:149764839..149766396-chr6:149774052..149775951,2	MCF-7	breast:
7	chr6:149763441..149766003-chr6:149768583..149771236,2	K562	blood:
8	chr6:149763379..149766103-chr6:149776553..149779366,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178199	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374621149	chr6:149764388-149764389	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531593221	chr6:149764448-149764449	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs367695219	chr6:149764457-149764458	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9498356	chr6:149764473-149764474	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189474916	chr6:149764520-149764521	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375219060	chr6:149764555-149764556	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181122888	chr6:149764562-149764563	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546761367	chr6:149764615-149764616	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566982466	chr6:149764624-149764625	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4895789	chr6:149764654-149764655	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549205908	chr6:149764717-149764718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371916309	chr6:149764763-149764764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138449584	chr6:149764794-149764795	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553367584	chr6:149764881-149764882	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558044204	chr6:149764901-149764902	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs113272048	chr6:149764902-149764903	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184323940	chr6:149764919-149764920	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553567965	chr6:149764972-149764973	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573718876	chr6:149764984-149764985	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7746970	chr6:149764995-149764996	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556357092	chr6:149765046-149765047	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189071450	chr6:149765049-149765050	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147258974	chr6:149765082-149765083	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369782117	chr6:149765102-149765103	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565207894	chr6:149765115-149765116	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551637468	chr6:149765119-149765120	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs57485886	chr6:149765147-149765148	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540664338	chr6:149765160-149765161	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560380796	chr6:149765166-149765167	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529341777	chr6:149765199-149765200	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377278957	chr6:149765225-149765226	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549074936	chr6:149765251-149765252	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs450305	chr6:149765254-149765255	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202092237	chr6:149765268-149765269	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200089312	chr6:149765278-149765279	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs67814151	chr6:149765280-149765281	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs58980787	chr6:149765282-149765283	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112846144	chr6:149765290-149765291	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111352053	chr6:149765298-149765299	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1619674	chr6:149765331-149765332	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs67994995	chr6:149765332-149765333	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58721573	chr6:149765333-149765334	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112298678	chr6:149765342-149765343	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs75560917	chr6:149765345-149765346	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs112934152	chr6:149765374-149765375	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111070221	chr6:149765387-149765388	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1619497	chr6:149765393-149765394	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542233755	chr6:149765410-149765411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374188206	chr6:149765448-149765449	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112368640	chr6:149765460-149765461	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Gastric cancer	17908304	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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149749800-149764400	Weak transcription	Right Atrium	heart
2	chr6:149753400-149770000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:149753600-149768400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:149753600-149769600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:149760600-149766600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr6:149760800-149765800	Weak transcription	GM12878-XiMat	blood
7	chr6:149761600-149769600	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149762400-149764600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:149762600-149764400	Weak transcription	Left Ventricle	heart
10	chr6:149762600-149764600	Weak transcription	NH-A	brain
11	chr6:149762600-149770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:149762800-149771000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:149763000-149764400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:149763000-149764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:149763000-149764800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:149763200-149764400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:149763200-149764600	Weak transcription	Placenta	Placenta
18	chr6:149763200-149765800	Weak transcription	Right Ventricle	heart
19	chr6:149763200-149770000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:149763200-149771000	Weak transcription	Fetal Intestine Small	intestine
21	chr6:149763200-149771400	Weak transcription	Pancreas	Pancrea
22	chr6:149763400-149766000	Enhancers	HepG2	liver
23	chr6:149764000-149765200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:149764200-149764600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr6:149764200-149765200	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr6:149764200-149765200	Enhancers	Brain Hippocampus Middle	brain
27	chr6:149764200-149765200	Enhancers	Fetal Lung	lung
28	chr6:149764200-149765200	Enhancers	Ovary	ovary
29	chr6:149764400-149764800	Enhancers	Right Atrium	heart
30	chr6:149764400-149764800	Enhancers	Spleen	Spleen
31	chr6:149764400-149765000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:149764400-149765000	Enhancers	Left Ventricle	heart
33	chr6:149764400-149765200	Enhancers	Brain Anterior Caudate	brain
34	chr6:149764400-149765200	Enhancers	Brain Cingulate Gyrus	brain
35	chr6:149764400-149765200	Enhancers	Brain Substantia Nigra	brain
36	chr6:149764400-149765200	Enhancers	Fetal Stomach	stomach
37	chr6:149764400-149765400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:149764400-149765400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:149764600-149764800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:149764600-149764800	Enhancers	Placenta	Placenta
41	chr6:149764600-149764800	Enhancers	Lung	lung
42	chr6:149764600-149765000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:149764600-149765200	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr6:149764600-149768600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr6:149764800-149765000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:149764800-149765000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:149764800-149765000	Enhancers	NH-A	brain
48	chr6:149764800-149765200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:149764800-149765200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr6:149764800-149765600	Weak transcription	Right Atrium	heart

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