Variant report

Variant	nsv569520
Chromosome Location	chr15:55170999-55327439
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55307832..55310614-chr15:55419822..55421871,2	K562	blood:
2	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
3	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
4	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
5	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
6	chr15:55276258..55277120-chr3:171388932..171389533,2	MCF-7	breast:
7	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:
8	chr15:55188424..55190542-chr15:55196033..55198017,2	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

Extended variants
information (count: 2921 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2921 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577141941	chr15:55176019-55176020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546155196	chr15:55176047-55176048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559623232	chr15:55176110-55176111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs80223540	chr15:55176115-55176116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541271994	chr15:55176118-55176119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561018117	chr15:55176131-55176132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367682452	chr15:55176163-55176164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551034329	chr15:55176173-55176174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140259807	chr15:55176174-55176175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12900258	chr15:55176182-55176183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564444360	chr15:55176183-55176184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16975577	chr15:55176210-55176211	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs77949093	chr15:55176215-55176216	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs552143422	chr15:55176222-55176223	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs565485669	chr15:55176223-55176224	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10220743	chr15:55176243-55176244	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554754394	chr15:55176247-55176248	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150328555	chr15:55176250-55176251	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs182453191	chr15:55176256-55176257	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs55714641	chr15:55176276-55176277	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557400558	chr15:55176318-55176319	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577448002	chr15:55176319-55176320	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186430583	chr15:55176403-55176404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76937039	chr15:55176419-55176420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs573375949	chr15:55176421-55176422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs137971083	chr15:55176445-55176446	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561082399	chr15:55176472-55176473	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191157803	chr15:55176494-55176495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs149466580	chr15:55176523-55176524	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183373774	chr15:55176527-55176528	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145936585	chr15:55176528-55176529	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551889191	chr15:55176550-55176551	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188532833	chr15:55176551-55176552	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528191441	chr15:55176555-55176556	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547854818	chr15:55176575-55176576	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117996123	chr15:55176577-55176578	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537279488	chr15:55176587-55176588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373703944	chr15:55176588-55176589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs192949489	chr15:55176595-55176596	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75359114	chr15:55176614-55176615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540076211	chr15:55176619-55176620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553411971	chr15:55176645-55176646	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573240599	chr15:55176658-55176659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs1501396	chr15:55176696-55176697	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555924602	chr15:55176716-55176717	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs571171334	chr15:55176784-55176785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575684815	chr15:55176794-55176795	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543298912	chr15:55176859-55176860	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs79873555	chr15:55176945-55176946	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577074107	chr15:55176997-55176998	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55176000-55176200	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr15:55176000-55178000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:55176200-55177200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr15:55176400-55177400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:55176600-55177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:55176800-55177200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr15:55176800-55177800	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:55177200-55177600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr15:55182200-55182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:55182600-55183000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:55182800-55183600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr15:55182800-55183600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:55183200-55183400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr15:55183600-55184600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr15:55208200-55208400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:55209400-55209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:55225200-55252800	Weak transcription	Aorta	Aorta
18	chr15:55232200-55233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:55243400-55244800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:55247400-55248200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:55249000-55249600	Enhancers	Fetal Brain Female	brain
22	chr15:55252200-55253000	Enhancers	Colon Smooth Muscle	Colon
23	chr15:55252800-55253000	Enhancers	Aorta	Aorta
24	chr15:55253000-55253400	Weak transcription	Aorta	Aorta
25	chr15:55253000-55254200	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:55253400-55253600	Enhancers	Aorta	Aorta
27	chr15:55253400-55253600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr15:55253600-55255400	Weak transcription	Aorta	Aorta
29	chr15:55253800-55254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:55254000-55254400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:55254200-55254400	Enhancers	Colon Smooth Muscle	Colon
32	chr15:55254200-55254400	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr15:55254600-55255000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:55254800-55255200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:55255400-55255600	ZNF genes & repeats	Aorta	Aorta
36	chr15:55270000-55272200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:55272200-55272400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:55272200-55272600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr15:55272200-55272800	Active TSS	Fetal Brain Male	brain
40	chr15:55272200-55273000	Enhancers	Fetal Stomach	stomach
41	chr15:55273000-55277200	Weak transcription	Fetal Stomach	stomach
42	chr15:55277200-55277600	Enhancers	Fetal Stomach	stomach
43	chr15:55277600-55279600	Weak transcription	Fetal Stomach	stomach
44	chr15:55279600-55280200	Enhancers	Fetal Stomach	stomach
45	chr15:55279800-55280000	Enhancers	Fetal Brain Male	brain
46	chr15:55280600-55280800	Enhancers	Fetal Brain Male	brain
47	chr15:55280800-55281000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:55281000-55286200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr15:55282800-55283200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr15:55282800-55283400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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