Variant report

Variant	nsv833014
Chromosome Location	chr15:55099183-55249491
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
2	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
3	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:
4	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:
5	chr15:55108183..55110175-chr15:55112199..55114608,2	K562	blood:
6	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
7	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:
8	chr15:55098177..55100063-chr15:55487437..55488979,2	MCF-7	breast:
9	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
10	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
11	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
12	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:
13	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-3	chr15:55212817-55213114	ucExp_388_-
2	lnc-UNC13C-3	chr15:55212817-55213114	ucExp_388_+

No data

Variant related genes	Relation type
ENSG00000137876	chromatin interactions

Extended variants
information (count: 2990 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2990 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2651760	chr15:55099215-55099216	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs56909278	chr15:55099216-55099217	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183884573	chr15:55099218-55099219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187078747	chr15:55099226-55099227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35171475	chr15:55099235-55099236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543132084	chr15:55099314-55099315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117961876	chr15:55099364-55099365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192569615	chr15:55099388-55099389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561914385	chr15:55099401-55099402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184373144	chr15:55099427-55099428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371263997	chr15:55099430-55099431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370929285	chr15:55099448-55099449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372591625	chr15:55099456-55099457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146158122	chr15:55099573-55099574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148790207	chr15:55099620-55099621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190586468	chr15:55099652-55099653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562097508	chr15:55099672-55099673	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530892082	chr15:55099711-55099712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551099163	chr15:55099720-55099721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193132118	chr15:55099729-55099730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs992348	chr15:55099758-55099759	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs532797555	chr15:55099788-55099789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142420056	chr15:55099807-55099808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185189616	chr15:55099819-55099820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140562550	chr15:55099820-55099821	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs565847865	chr15:55099945-55099946	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2695681	chr15:55099981-55099982	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2651759	chr15:55100000-55100001	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567741554	chr15:55100034-55100035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536599868	chr15:55100096-55100097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151297016	chr15:55100110-55100111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2695682	chr15:55100199-55100200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs539514237	chr15:55100213-55100214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188954810	chr15:55100241-55100242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375015165	chr15:55100260-55100261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75515218	chr15:55100273-55100274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181647834	chr15:55100282-55100283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528555374	chr15:55100335-55100336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575720423	chr15:55100376-55100377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372199345	chr15:55100406-55100407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544659097	chr15:55100441-55100442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564469193	chr15:55100474-55100475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376785212	chr15:55100528-55100529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369450022	chr15:55100550-55100551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569094564	chr15:55100554-55100555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185541213	chr15:55100560-55100561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538110024	chr15:55100574-55100575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547058283	chr15:55100597-55100598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559302501	chr15:55100608-55100609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139329435	chr15:55100624-55100625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Renal cell carcinoma	21215367	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55096000-55100200	Weak transcription	Aorta	Aorta
2	chr15:55096800-55101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:55097000-55102000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:55097200-55105800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:55100200-55100400	Enhancers	Aorta	Aorta
6	chr15:55100400-55106800	Weak transcription	Aorta	Aorta
7	chr15:55101600-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:55102000-55102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:55105800-55107200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr15:55106400-55107000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:55106800-55107200	ZNF genes & repeats	Aorta	Aorta
12	chr15:55107000-55107200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:55107200-55108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:55107200-55109000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:55107200-55109000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:55108400-55109000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr15:55110000-55110600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:55110600-55111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:55111200-55111400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:55116800-55117600	ZNF genes & repeats	Aorta	Aorta
21	chr15:55117600-55131800	Weak transcription	Aorta	Aorta
22	chr15:55121800-55122600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:55122000-55122400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:55122000-55123400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:55123400-55123600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:55123400-55125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr15:55125400-55125600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr15:55131000-55131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr15:55131000-55132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr15:55131200-55132400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:55131200-55133200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:55131200-55133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr15:55131800-55132000	Flanking Active TSS	Aorta	Aorta
34	chr15:55131800-55132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:55131800-55133200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr15:55132000-55132200	Active TSS	Aorta	Aorta
37	chr15:55132000-55133200	Enhancers	H9 Cell Line	embryonic stem cell
38	chr15:55132000-55133200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:55132400-55132800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:55132800-55133200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:55133000-55133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:55133000-55133200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr15:55133000-55133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:55134200-55136200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr15:55134400-55134600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:55139600-55140000	Enhancers	Primary hematopoietic stem cells	blood
49	chr15:55141200-55141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:55141400-55142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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