Variant report

Variant	nsv569406
Chromosome Location	chr15:51838719-51890282
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:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr15:51836777..51838394-chr15:51842554..51844470,2	MCF-7	breast:
2	chr15:51866683..51869187-chr15:51892803..51894310,2	K562	blood:
3	chr15:51839139..51840745-chr15:51914950..51916710,2	MCF-7	breast:
4	chr15:51819144..51821479-chr15:51841075..51843478,2	MCF-7	breast:
5	chr15:51833348..51836933-chr15:51844447..51846431,3	MCF-7	breast:
6	chr15:51859933..51862256-chr15:51866857..51869173,2	MCF-7	breast:
7	chr15:51845903..51847935-chr15:51852090..51853742,2	MCF-7	breast:
8	chr15:51694062..51694684-chr15:51881746..51882355,2	MCF-7	breast:
9	chr15:51856573..51860560-chr15:51913023..51916306,6	MCF-7	breast:
10	chr15:51854337..51857092-chr15:51860809..51862898,2	K562	blood:
11	chr15:51790521..51793289-chr15:51842403..51845219,2	K562	blood:
12	chr15:51838753..51841141-chr15:51845235..51847701,2	MCF-7	breast:
13	chr15:51872226..51872785-chr8:61590656..61591256,2	NB4	blood:
14	chr15:51879008..51880912-chr15:51891609..51894579,2	K562	blood:
15	chr15:51828678..51829913-chr15:51881158..51882720,13	MCF-7	breast:
16	chr15:51887772..51889993-chr15:51908818..51910938,2	MCF-7	breast:
17	chr15:51828988..51832305-chr15:51839364..51844181,4	K562	blood:
18	chr15:51871179..51874131-chr15:51904506..51906716,2	K562	blood:
19	chr15:51855034..51858623-chr15:51869913..51872025,3	MCF-7	breast:
20	chr15:51843037..51845513-chr15:51854667..51856394,2	K562	blood:
21	chr15:51843037..51845513-chr15:51854667..51856394,2	K562	blood:
22	chr15:51880703..51883110-chr15:51892306..51895178,2	MCF-7	breast:
23	chr15:51830037..51835307-chr15:51835451..51839022,5	MCF-7	breast:
24	chr15:51850776..51853114-chr15:51857190..51858738,2	K562	blood:
25	chr15:51828885..51829774-chr15:51881790..51882666,5	MCF-7	breast:
26	chr15:51837957..51840448-chr15:51845565..51847843,2	K562	blood:
27	chr15:51854337..51857092-chr15:51860809..51862898,2	K562	blood:
28	chr15:51857366..51859999-chr15:51867554..51870226,2	MCF-7	breast:
29	chr15:51845903..51847935-chr15:51852090..51853742,2	MCF-7	breast:
30	chr15:51716051..51718923-chr15:51836629..51839391,2	K562	blood:
31	chr15:51844973..51847549-chr15:53093703..53095676,2	MCF-7	breast:
32	chr15:51887877..51891217-chr15:51913532..51916427,5	MCF-7	breast:
33	chr15:51872223..51874383-chr15:51891737..51894519,2	MCF-7	breast:
34	chr15:51857366..51859999-chr15:51867554..51870226,2	MCF-7	breast:
35	chr15:51877838..51880078-chr15:51913640..51915227,2	MCF-7	breast:
36	chr15:51828880..51829850-chr15:51865800..51866794,7	MCF-7	breast:
37	chr15:51830715..51832305-chr15:51842133..51844181,2	K562	blood:
38	chr15:51830870..51833230-chr15:51850921..51853249,2	K562	blood:
39	chr15:51870572..51873309-chr15:51873394..51875007,2	MCF-7	breast:
40	chr15:51846158..51849118-chr15:51859655..51862008,2	MCF-7	breast:
41	chr15:51869314..51872893-chr15:51913496..51916376,3	MCF-7	breast:
42	chr15:51859933..51862256-chr15:51866857..51869173,2	MCF-7	breast:
43	chr15:51867858..51870463-chr15:51910952..51912815,2	K562	blood:
44	chr15:51828883..51829809-chr15:51853123..51854092,2	MCF-7	breast:
45	chr15:51861248..51863140-chr15:51914368..51916557,2	MCF-7	breast:
46	chr15:51833724..51835640-chr15:51837981..51840584,2	MCF-7	breast:
47	chr15:51860984..51863229-chr15:51878270..51880253,2	MCF-7	breast:
48	chr15:51835902..51838646-chr15:51851787..51853381,2	MCF-7	breast:
49	chr15:51837957..51840448-chr15:51845565..51847843,2	K562	blood:
50	chr15:51859502..51861947-chr15:52073735..52076540,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104093	chromatin interactions
ENSG00000128872	chromatin interactions

Extended variants
information (count: 1965 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1965 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11855041	chr15:51838719-51838720	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74013295	chr15:51838782-51838783	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs74013296	chr15:51838794-51838795	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571561569	chr15:51838836-51838837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143794327	chr15:51838858-51838859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553764126	chr15:51838884-51838885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186230985	chr15:51838894-51838895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536316408	chr15:51838913-51838914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554721296	chr15:51838935-51838936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373174213	chr15:51838936-51838937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574246354	chr15:51838938-51838939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544822239	chr15:51838979-51838980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74013297	chr15:51839025-51839026	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138485938	chr15:51839056-51839057	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373019134	chr15:51839102-51839103	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560564484	chr15:51839114-51839115	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527709487	chr15:51839128-51839129	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542669974	chr15:51839132-51839133	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs75756393	chr15:51839142-51839143	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79909437	chr15:51839178-51839179	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549602143	chr15:51839195-51839196	Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565017329	chr15:51839211-51839212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75714023	chr15:51839246-51839247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs72283649	chr15:51839313-51839314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200708757	chr15:51839342-51839343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372894102	chr15:51839343-51839344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs547395138	chr15:51839369-51839370	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372372615	chr15:51839414-51839415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141333456	chr15:51839419-51839420	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199553696	chr15:51839436-51839437	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143486672	chr15:51839457-51839458	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201324453	chr15:51839528-51839529	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150515203	chr15:51839554-51839555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200368899	chr15:51839618-51839619	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569814939	chr15:51839660-51839661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538432548	chr15:51839871-51839872	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556832661	chr15:51839958-51839959	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145122240	chr15:51839976-51839977	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs191927828	chr15:51840023-51840024	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555728798	chr15:51840047-51840048	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs537329687	chr15:51840064-51840065	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554187409	chr15:51840100-51840101	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558576679	chr15:51840108-51840109	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374176420	chr15:51840117-51840118	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs572355880	chr15:51840125-51840126	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs183576456	chr15:51840141-51840142	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74013299	chr15:51840142-51840143	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74381110	chr15:51840154-51840155	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34595746	chr15:51840157-51840158	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs576819012	chr15:51840177-51840178	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51776800-51855200	Weak transcription	Thymus	Thymus
2	chr15:51780400-51855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:51780800-51839000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:51781400-51863000	Weak transcription	HSMM	muscle
5	chr15:51787400-51855400	Weak transcription	Osteobl	bone
6	chr15:51794600-51861000	Weak transcription	Gastric	stomach
7	chr15:51809000-51854800	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:51816000-51861000	Weak transcription	Pancreas	Pancrea
9	chr15:51817800-51862200	Weak transcription	Fetal Brain Male	brain
10	chr15:51818200-51847600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr15:51818200-51855400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:51818200-51861600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:51818400-51853400	Weak transcription	Lung	lung
14	chr15:51818400-51861200	Weak transcription	Fetal Stomach	stomach
15	chr15:51818800-51840200	Weak transcription	Hela-S3	cervix
16	chr15:51819400-51852600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:51819400-51853400	Weak transcription	Ovary	ovary
18	chr15:51819600-51853400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:51819600-51861400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr15:51819800-51863000	Weak transcription	Right Ventricle	heart
21	chr15:51822000-51849400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:51822400-51840000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:51824400-51854200	Weak transcription	Fetal Kidney	kidney
24	chr15:51824600-51855000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:51824600-51860600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:51824600-51861000	Weak transcription	Left Ventricle	heart
27	chr15:51824800-51863200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:51825000-51845600	Weak transcription	Brain Germinal Matrix	brain
29	chr15:51825600-51840000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:51826000-51853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:51827000-51861600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:51827200-51838800	Weak transcription	NHLF	lung
33	chr15:51827400-51859800	Weak transcription	Fetal Intestine Small	intestine
34	chr15:51828600-51861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:51828800-51868000	Weak transcription	Adipose Nuclei	Adipose
36	chr15:51828800-51868200	Weak transcription	Fetal Intestine Large	intestine
37	chr15:51829000-51853400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:51829000-51855200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:51829000-51856000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:51829000-51857000	Weak transcription	NHDF-Ad	bronchial
41	chr15:51829000-51859800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr15:51829000-51861000	Weak transcription	Fetal Lung	lung
43	chr15:51829000-51868800	Weak transcription	A549	lung
44	chr15:51829200-51861000	Weak transcription	Placenta	Placenta
45	chr15:51829400-51860600	Weak transcription	Fetal Brain Female	brain
46	chr15:51829400-51863200	Weak transcription	Dnd41	blood
47	chr15:51830000-51861000	Weak transcription	K562	blood
48	chr15:51831400-51868800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:51835000-51841000	Weak transcription	Small Intestine	intestine
50	chr15:51836400-51861400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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