Variant report

Variant	nsv977070
Chromosome Location	chr15:55096487-55120028
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
2	chr15:55098177..55100063-chr15:55487437..55488979,2	MCF-7	breast:
3	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
4	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
5	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:

Variant related genes	Relation type
ENSG00000137876	chromatin interactions

Extended variants
information (count: 736 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:736 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529236935	chr15:55096501-55096502	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371800006	chr15:55096538-55096539	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2695680	chr15:55096542-55096543	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs77664079	chr15:55096565-55096566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367601773	chr15:55096578-55096579	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531295929	chr15:55096598-55096599	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114048622	chr15:55096637-55096638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34649529	chr15:55096638-55096639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551520271	chr15:55096646-55096647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71474900	chr15:55096694-55096695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs527889157	chr15:55096716-55096717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139892207	chr15:55096717-55096718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567755046	chr15:55096748-55096749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560702580	chr15:55096879-55096880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536978855	chr15:55096881-55096882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556406545	chr15:55096884-55096885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71436291	chr15:55096888-55096889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149816278	chr15:55096896-55096897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117037129	chr15:55096952-55096953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542868442	chr15:55096990-55096991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562841416	chr15:55097101-55097102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185779891	chr15:55097121-55097122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145773909	chr15:55097126-55097127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534807365	chr15:55097181-55097182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553963191	chr15:55097182-55097183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148949866	chr15:55097271-55097272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16975340	chr15:55097276-55097277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35682966	chr15:55097289-55097290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112299023	chr15:55097297-55097298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76649003	chr15:55097313-55097314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562740960	chr15:55097339-55097340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576107495	chr15:55097354-55097355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147045884	chr15:55097410-55097411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189709275	chr15:55097419-55097420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147665785	chr15:55097437-55097438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547153675	chr15:55097446-55097447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10518778	chr15:55097497-55097498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530206333	chr15:55097509-55097510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550065815	chr15:55097521-55097522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142312290	chr15:55097555-55097556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373623646	chr15:55097648-55097649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538940055	chr15:55097674-55097675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552202516	chr15:55097681-55097682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182608958	chr15:55097685-55097686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7168019	chr15:55097711-55097712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs146158763	chr15:55097751-55097752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375655566	chr15:55097756-55097757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188868326	chr15:55097778-55097779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138885188	chr15:55097784-55097785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141265806	chr15:55097811-55097812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55094200-55096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:55094200-55097200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:55094800-55096600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr15:55095000-55097200	Enhancers	Primary hematopoietic stem cells	blood
5	chr15:55095800-55096600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:55095800-55096600	Enhancers	GM12878-XiMat	blood
7	chr15:55096000-55096600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:55096000-55100200	Weak transcription	Aorta	Aorta
9	chr15:55096600-55097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:55096800-55101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:55097000-55102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:55097200-55105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:55100200-55100400	Enhancers	Aorta	Aorta
14	chr15:55100400-55106800	Weak transcription	Aorta	Aorta
15	chr15:55101600-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:55102000-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:55105800-55107200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr15:55106400-55107000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:55106800-55107200	ZNF genes & repeats	Aorta	Aorta
20	chr15:55107000-55107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:55107200-55108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:55107200-55109000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:55107200-55109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:55108400-55109000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr15:55110000-55110600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr15:55110600-55111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:55111200-55111400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:55116800-55117600	ZNF genes & repeats	Aorta	Aorta
29	chr15:55117600-55131800	Weak transcription	Aorta	Aorta

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