Variant report

Variant	esv33352
Chromosome Location	chr15:51303047-51317662
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51305008..51307424-chr15:51309075..51311635,3	K562	blood:
2	chr15:51305310..51307209-chr15:51307748..51310248,3	MCF-7	breast:
3	chr15:51294396..51297961-chr15:51303486..51306032,4	MCF-7	breast:
4	chr15:51295995..51298395-chr15:51304448..51306643,2	K562	blood:
5	chr15:51306446..51309376-chr15:51317224..51319502,2	K562	blood:
6	chr15:51305822..51307424-chr15:51309118..51311635,2	K562	blood:
7	chr15:51301659..51305827-chr15:51306587..51308826,6	MCF-7	breast:
8	chr15:51306446..51309376-chr15:51317224..51319502,2	K562	blood:
9	chr15:51305822..51307424-chr15:51309118..51311635,2	K562	blood:
10	chr15:51307908..51310464-chr15:51313426..51315833,2	K562	blood:
11	chr15:51305008..51307424-chr15:51309075..51311635,3	K562	blood:
12	chr15:51303494..51305144-chr15:51312892..51315605,2	MCF-7	breast:
13	chr15:51301659..51305827-chr15:51306587..51308826,6	MCF-7	breast:
14	chr15:51303494..51305144-chr15:51312892..51315605,2	MCF-7	breast:
15	chr15:51305310..51307209-chr15:51307748..51310248,3	MCF-7	breast:
16	chr15:51307908..51310464-chr15:51313426..51315833,2	K562	blood:
17	chr15:51298494..51301208-chr15:51302295..51305050,2	MCF-7	breast:
18	chr15:51316137..51318472-chr15:51321642..51323640,2	MCF-7	breast:

No data

Extended variants
information (count: 468 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568531420	chr15:51303071-51303072	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77971233	chr15:51303077-51303078	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374383802	chr15:51303124-51303125	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557351776	chr15:51303160-51303161	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575533092	chr15:51303191-51303192	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546514443	chr15:51303196-51303197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17703435	chr15:51303204-51303205	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs147529764	chr15:51303221-51303222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540384543	chr15:51303254-51303255	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371232062	chr15:51303272-51303273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561470141	chr15:51303289-51303290	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192813630	chr15:51303312-51303313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80153684	chr15:51303322-51303323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528480202	chr15:51303327-51303328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140208519	chr15:51303369-51303370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532788190	chr15:51303385-51303386	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145700189	chr15:51303398-51303399	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116499456	chr15:51303439-51303440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527497607	chr15:51303511-51303512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549170725	chr15:51303528-51303529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568419068	chr15:51303557-51303558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184324438	chr15:51303581-51303582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577139720	chr15:51303622-51303623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550785436	chr15:51303637-51303638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569279908	chr15:51303735-51303736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147714080	chr15:51303743-51303744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35167412	chr15:51303803-51303804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558036190	chr15:51303873-51303874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79923274	chr15:51303894-51303895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534202505	chr15:51303924-51303925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189486138	chr15:51303938-51303939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574144889	chr15:51303969-51303970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11856609	chr15:51303989-51303990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148783302	chr15:51303994-51303995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181835038	chr15:51304003-51304004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79494659	chr15:51304061-51304062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117493394	chr15:51304069-51304070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373352920	chr15:51304141-51304142	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527612540	chr15:51304159-51304160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549282803	chr15:51304170-51304171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561105753	chr15:51304301-51304302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142334796	chr15:51304364-51304365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11853182	chr15:51304373-51304374	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs185195042	chr15:51304384-51304385	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539833356	chr15:51304425-51304426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551391672	chr15:51304440-51304441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34775485	chr15:51304552-51304553	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71127173	chr15:51304553-51304554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs398027262	chr15:51304563-51304564	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200415073	chr15:51304564-51304565	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51263000-51304800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51265200-51315600	Weak transcription	Gastric	stomach
3	chr15:51270200-51317600	Weak transcription	Psoas Muscle	Psoas
4	chr15:51273600-51307600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:51282000-51304000	Weak transcription	Fetal Heart	heart
6	chr15:51286200-51315600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:51286600-51323000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:51289000-51322200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:51294600-51303200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:51295000-51303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:51295000-51310200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:51295400-51308000	Weak transcription	Brain Angular Gyrus	brain
13	chr15:51295800-51322400	Weak transcription	Osteobl	bone
14	chr15:51296600-51306800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:51296800-51305000	Weak transcription	Placenta	Placenta
16	chr15:51296800-51311600	Weak transcription	HMEC	breast
17	chr15:51296800-51316800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:51296800-51316800	Weak transcription	NHDF-Ad	bronchial
19	chr15:51297800-51317000	Weak transcription	HSMMtube	muscle
20	chr15:51298800-51322400	Weak transcription	Aorta	Aorta
21	chr15:51298800-51322800	Weak transcription	Left Ventricle	heart
22	chr15:51299800-51307600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:51299800-51316800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr15:51300600-51303800	Weak transcription	Primary B cells from cord blood	blood
25	chr15:51300600-51330600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:51300800-51303200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:51300800-51305800	Weak transcription	Right Ventricle	heart
28	chr15:51300800-51307000	Weak transcription	Adipose Nuclei	Adipose
29	chr15:51300800-51311000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:51301000-51315400	Weak transcription	HSMM	muscle
31	chr15:51301000-51317600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:51302000-51303200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:51302000-51317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:51302200-51316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:51302400-51303200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr15:51302400-51304800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:51302600-51303200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:51302600-51306400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr15:51303000-51304600	Enhancers	HUVEC	blood vessel
40	chr15:51303200-51303400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:51303200-51310600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:51303200-51311200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:51303400-51304000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:51304000-51305600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr15:51305600-51306400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:51306400-51307600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:51306800-51307000	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr15:51307600-51309000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:51309000-51310000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:51310000-51314200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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