Variant report

Variant	esv3311782
Chromosome Location	chr15:51167104-51170190
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51169436..51172227-chr15:51174524..51176801,3	MCF-7	breast:
2	chr15:51056114..51059435-chr15:51164290..51170662,7	MCF-7	breast:
3	chr15:51169182..51171979-chr15:51176658..51178721,2	K562	blood:
4	chr15:50966245..50970616-chr15:51167760..51171279,6	MCF-7	breast:
5	chr15:51168728..51169620-chr15:51177649..51178652,4	K562	blood:
6	chr15:51169311..51171389-chr15:51199353..51201611,2	K562	blood:
7	chr15:51166538..51169087-chr15:51176701..51178224,2	MCF-7	breast:
8	chr15:51167738..51170695-chr15:51174100..51175756,2	MCF-7	breast:
9	chr15:51169111..51169804-chr15:51177818..51178332,2	MCF-7	breast:
10	chr15:51169074..51171423-chr15:51198294..51201877,3	K562	blood:
11	chr15:51168451..51168984-chr20:49411066..49411653,2	MCF-7	breast:
12	chr15:50978415..50979112-chr15:51168650..51169362,2	MCF-7	breast:
13	chr15:51055486..51061183-chr15:51164859..51169908,7	MCF-7	breast:
14	chr15:50977735..50980671-chr15:51167535..51171424,9	MCF-7	breast:
15	chr15:50977313..50978812-chr15:51169055..51169789,4	MCF-7	breast:
16	chr15:50967262..50968901-chr15:51168741..51169920,12	MCF-7	breast:
17	chr15:51169062..51169728-chr15:51200375..51201044,2	K562	blood:
18	chr15:51167855..51170942-chr15:51171206..51172852,3	K562	blood:
19	chr15:51169636..51171826-chr15:51174500..51176639,2	K562	blood:
20	chr15:50967409..50968619-chr15:51168790..51169663,6	MCF-7	breast:
21	chr15:51057661..51059465-chr15:51167793..51170787,2	K562	blood:
22	chr15:51055466..51057454-chr15:51167757..51170599,2	K562	blood:
23	chr15:50977401..50979649-chr15:51165838..51169878,4	MCF-7	breast:
24	chr15:50967897..50968403-chr15:51168851..51169399,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138600	chromatin interactions
ENSG00000081014	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000092439	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140129311	chr15:51167121-51167122	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143831440	chr15:51167129-51167130	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575202649	chr15:51167137-51167138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539010743	chr15:51167145-51167146	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542477192	chr15:51167242-51167243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563851777	chr15:51167264-51167265	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs191774655	chr15:51167266-51167267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554340194	chr15:51167283-51167284	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201959274	chr15:51167304-51167305	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs28590740	chr15:51167326-51167327	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140618819	chr15:51167385-51167386	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs572560856	chr15:51167390-51167391	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs546268531	chr15:51167442-51167443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2614771	chr15:51167459-51167460	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535340583	chr15:51167474-51167475	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs57336270	chr15:51167529-51167530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572669968	chr15:51167530-51167531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs80121576	chr15:51167532-51167533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201531084	chr15:51167537-51167538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs202126270	chr15:51167541-51167542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs79078937	chr15:51167543-51167544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs200310800	chr15:51167552-51167553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183969655	chr15:51167583-51167584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs572393758	chr15:51167632-51167633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs373644841	chr15:51167645-51167646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs568673544	chr15:51167680-51167681	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537160284	chr15:51167783-51167784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs143183159	chr15:51167791-51167792	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs554701555	chr15:51167837-51167838	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576266808	chr15:51167854-51167855	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577265755	chr15:51167861-51167862	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs371614573	chr15:51167917-51167918	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs138957542	chr15:51167927-51167928	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs575239951	chr15:51167981-51167982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7163999	chr15:51167999-51168000	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560713282	chr15:51168020-51168021	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565013078	chr15:51168023-51168024	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576807405	chr15:51168059-51168060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575746175	chr15:51168071-51168072	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186123975	chr15:51168090-51168091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs189754260	chr15:51168105-51168106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs528158696	chr15:51168128-51168129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs546214133	chr15:51168135-51168136	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113382281	chr15:51168180-51168181	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374099549	chr15:51168186-51168187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529164196	chr15:51168221-51168222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs550417647	chr15:51168253-51168254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568962703	chr15:51168271-51168272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557480592	chr15:51168333-51168334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539668515	chr15:51168340-51168341	Weak transcription	Chromatin interactive region	2 gene(s)	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
Cancer	20164919	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51151200-51177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:51160400-51169000	Weak transcription	Left Ventricle	heart
3	chr15:51163600-51176400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:51165400-51169000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr15:51165600-51168800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:51165800-51167200	Enhancers	GM12878-XiMat	blood
7	chr15:51165800-51169000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:51165800-51169000	Weak transcription	Fetal Kidney	kidney
9	chr15:51166000-51167600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:51166000-51168600	Weak transcription	Adipose Nuclei	Adipose
11	chr15:51166000-51168600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr15:51166000-51168800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:51166000-51168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:51166000-51169000	Weak transcription	Fetal Intestine Small	intestine
15	chr15:51166400-51167200	Enhancers	Liver	Liver
16	chr15:51166400-51168800	Weak transcription	Right Atrium	heart
17	chr15:51166400-51169000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:51166800-51168600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:51166800-51168600	Weak transcription	HepG2	liver
20	chr15:51166800-51168800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:51166800-51168800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:51166800-51169000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr15:51167000-51168600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:51167000-51168800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:51167000-51169000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:51167200-51168800	Weak transcription	Liver	Liver
27	chr15:51167200-51168800	Weak transcription	GM12878-XiMat	blood
28	chr15:51167600-51167800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr15:51167800-51168400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:51168400-51168800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr15:51168600-51168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr15:51168600-51168800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:51168600-51168800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:51168600-51168800	Enhancers	Dnd41	blood
35	chr15:51168600-51168800	Enhancers	HepG2	liver
36	chr15:51168600-51168800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:51168600-51169000	Enhancers	Primary B cells from peripheral blood	blood
38	chr15:51168600-51169000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr15:51168600-51169000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr15:51168600-51169000	Enhancers	Hela-S3	cervix
41	chr15:51168600-51169200	Enhancers	Right Ventricle	heart
42	chr15:51168600-51169400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:51168600-51169400	Active TSS	Duodenum Mucosa	Duodenum
44	chr15:51168600-51169400	Active TSS	Placenta	Placenta
45	chr15:51168600-51169400	Active TSS	A549	lung
46	chr15:51168800-51169000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:51168800-51169000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr15:51168800-51169000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr15:51168800-51169000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr15:51168800-51169000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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