Variant report

Variant	esv3474315
Chromosome Location	chr6:149676657-149685845
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	chr6:149662701..149664536-chr6:149680137..149682402,2	MCF-7	breast:
2	chr6:149674096..149676854-chr6:149692307..149694360,2	K562	blood:
3	chr6:149681016..149683227-chr6:149684607..149686407,2	K562	blood:
4	chr6:149677655..149680872-chr6:149681238..149685381,4	K562	blood:
5	chr6:149636778..149639482-chr6:149674367..149678073,3	MCF-7	breast:
6	chr6:149658537..149661655-chr6:149675884..149678661,3	MCF-7	breast:
7	chr6:149680069..149683623-chr6:149692115..149695638,3	MCF-7	breast:
8	chr2:237466966..237467616-chr6:149678102..149678724,2	MCF-7	breast:
9	chr6:149638872..149640780-chr6:149681025..149683622,2	MCF-7	breast:
10	chr6:149638132..149640198-chr6:149684174..149686435,2	MCF-7	breast:
11	chr6:149677655..149680872-chr6:149681238..149685381,4	K562	blood:
12	chr6:149673851..149675432-chr6:149684048..149686168,2	K562	blood:
13	chr6:149641839..149644296-chr6:149682895..149684732,2	K562	blood:
14	chr6:149682033..149686160-chr6:149686843..149689832,5	K562	blood:
15	chr6:149681410..149684153-chr6:149703161..149705168,2	MCF-7	breast:
16	chr6:149683181..149685215-chr6:149697904..149699618,2	MCF-7	breast:
17	chr6:149681016..149683227-chr6:149684607..149686407,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000055208	chromatin interactions

Extended variants
information (count: 315 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188361359	chr6:149676678-149676679	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548774559	chr6:149676732-149676733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375435582	chr6:149676751-149676752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374237230	chr6:149676804-149676805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531363527	chr6:149676818-149676819	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181080525	chr6:149676835-149676836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557304869	chr6:149676886-149676887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528472367	chr6:149676897-149676898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570725580	chr6:149676924-149676925	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539716161	chr6:149676967-149676968	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553254124	chr6:149676990-149676991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116264488	chr6:149676996-149676997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147651571	chr6:149677081-149677082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370041217	chr6:149677092-149677093	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74510470	chr6:149677100-149677101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551427231	chr6:149677101-149677102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575280324	chr6:149677145-149677146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78167969	chr6:149677189-149677190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562589147	chr6:149677193-149677194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564247839	chr6:149677231-149677232	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559363613	chr6:149677233-149677234	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs374278245	chr6:149677270-149677271	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115422283	chr6:149677272-149677273	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560474946	chr6:149677331-149677332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371320187	chr6:149677340-149677341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184202814	chr6:149677386-149677387	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377714160	chr6:149677389-149677390	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548317483	chr6:149677418-149677419	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571204529	chr6:149677460-149677461	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530874100	chr6:149677488-149677489	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6920383	chr6:149677497-149677498	Enhancers Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570663866	chr6:149677638-149677639	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539685470	chr6:149677654-149677655	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190210167	chr6:149677656-149677657	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140873326	chr6:149677659-149677660	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536898577	chr6:149677692-149677693	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149726311	chr6:149677699-149677700	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575218595	chr6:149677700-149677701	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs181912545	chr6:149677727-149677728	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557898231	chr6:149677730-149677731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550883207	chr6:149677794-149677795	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577900454	chr6:149677805-149677806	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540476679	chr6:149677868-149677869	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560459726	chr6:149677895-149677896	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573884776	chr6:149678013-149678014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187288035	chr6:149678061-149678062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192086330	chr6:149678085-149678086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373103485	chr6:149678102-149678103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181922073	chr6:149678104-149678105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35507447	chr6:149678117-149678118	Weak transcription Enhancers	n/a	n/a	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
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

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149641200-149681400	Weak transcription	Fetal Stomach	stomach
2	chr6:149649400-149689400	Weak transcription	Fetal Brain Female	brain
3	chr6:149656800-149681400	Weak transcription	Psoas Muscle	Psoas
4	chr6:149656800-149682400	Weak transcription	Lung	lung
5	chr6:149656800-149694400	Weak transcription	Placenta	Placenta
6	chr6:149657800-149683800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:149657800-149691200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:149658000-149679000	Weak transcription	K562	blood
9	chr6:149658000-149680800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:149658000-149681400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:149658000-149695400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:149658200-149691000	Weak transcription	NHDF-Ad	bronchial
13	chr6:149658800-149692400	Weak transcription	Fetal Kidney	kidney
14	chr6:149659200-149685200	Weak transcription	Ovary	ovary
15	chr6:149659200-149691400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:149659400-149679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:149659600-149679200	Weak transcription	NH-A	brain
18	chr6:149659600-149684200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:149660400-149682200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:149660400-149682400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:149660400-149685600	Weak transcription	Pancreas	Pancrea
22	chr6:149660400-149699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:149662200-149694800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:149663400-149685400	Weak transcription	Fetal Lung	lung
25	chr6:149663800-149685400	Weak transcription	Brain Anterior Caudate	brain
26	chr6:149664000-149682600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:149664000-149687400	Weak transcription	HSMM	muscle
28	chr6:149664000-149694400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:149664600-149681400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:149664600-149687400	Weak transcription	Right Ventricle	heart
31	chr6:149665600-149680400	Weak transcription	Brain Germinal Matrix	brain
32	chr6:149665800-149680400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:149666000-149680400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:149666200-149685400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr6:149666400-149683400	Weak transcription	NHEK	skin
36	chr6:149667400-149684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:149667400-149685600	Weak transcription	Stomach Mucosa	stomach
38	chr6:149667600-149678600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:149667600-149679000	Weak transcription	A549	lung
40	chr6:149667600-149691000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:149668400-149682400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:149668600-149677600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:149668600-149679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:149668600-149680000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:149668600-149681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:149668600-149683400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:149669000-149685400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:149669400-149690400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:149670200-149677400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:149670600-149681400	Weak transcription	Fetal Intestine Small	intestine

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