Variant report

Variant	nsv1045264
Chromosome Location	chr15:54981538-55103777
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:
2	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
3	chr15:55098177..55100063-chr15:55487437..55488979,2	MCF-7	breast:
4	chr15:55095085..55095585-chr3:11761302..11762189,2	MCF-7	breast:
5	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
6	chr15:55000280..55003286-chr15:55005591..55008128,3	K562	blood:
7	chr15:55062888..55065533-chr15:55066470..55069394,2	K562	blood:
8	chr15:55000191..55003653-chr15:55007581..55011163,3	MCF-7	breast:
9	chr15:55102625..55104319-chr15:55107510..55110116,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137876	chromatin interactions
ENSG00000144560	chromatin interactions

Extended variants
information (count: 1969 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1969 , 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	rs377092317	chr15:54982824-54982825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576778591	chr15:54982864-54982865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545728212	chr15:54982923-54982924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112066718	chr15:54982961-54982962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116295952	chr15:54982990-54982991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541511054	chr15:54982996-54982997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200324638	chr15:54983013-54983014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186721606	chr15:54983025-54983026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78265004	chr15:54983065-54983066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11858172	chr15:54983087-54983088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562359415	chr15:54983098-54983099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542644718	chr15:54983141-54983142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556376641	chr15:54983159-54983160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11858202	chr15:54983177-54983178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571219996	chr15:54983178-54983179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545006289	chr15:54983186-54983187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533594844	chr15:54983226-54983227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111804323	chr15:54983238-54983239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572026955	chr15:54983246-54983247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191548200	chr15:54983337-54983338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34033580	chr15:54983347-54983348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561170417	chr15:54983387-54983388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569556946	chr15:55000210-55000211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538569359	chr15:55000219-55000220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571418772	chr15:55000250-55000251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369902371	chr15:55000251-55000252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7183541	chr15:55000315-55000316	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs578103063	chr15:55000322-55000323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10851574	chr15:55000373-55000374	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547500510	chr15:55000374-55000375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142082413	chr15:55000379-55000380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536190793	chr15:55000420-55000421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146332225	chr15:55000421-55000422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561571745	chr15:55000442-55000443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139572714	chr15:55000504-55000505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544139796	chr15:55000546-55000547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576210158	chr15:55000577-55000578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7178021	chr15:55000589-55000590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532894611	chr15:55000591-55000592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34903784	chr15:55000605-55000606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539869508	chr15:55000625-55000626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560159727	chr15:55000635-55000636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529015237	chr15:55000649-55000650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549578540	chr15:55000659-55000660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144207600	chr15:55000663-55000664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188377359	chr15:55000675-55000676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552066267	chr15:55000678-55000679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571866594	chr15:55000679-55000680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151027457	chr15:55000685-55000686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577034385	chr15:55000699-55000700	Enhancers	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
Cancer	20164919	CNVD
Renal cell carcinoma	21215367	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	21215367	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54982800-54983400	Enhancers	Brain Germinal Matrix	brain
2	chr15:55000200-55000800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:55019000-55020000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:55019200-55019400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:55019400-55019800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:55020000-55020400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:55020400-55021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:55021000-55022200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:55022200-55023000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:55030400-55031000	ZNF genes & repeats	Adipose Nuclei	Adipose
11	chr15:55030400-55031000	ZNF genes & repeats	Aorta	Aorta
12	chr15:55037600-55037800	Weak transcription	Aorta	Aorta
13	chr15:55037800-55038200	ZNF genes & repeats	Aorta	Aorta
14	chr15:55038200-55041600	Weak transcription	Aorta	Aorta
15	chr15:55041800-55042000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:55055800-55056200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:55056200-55057200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr15:55057200-55057800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:55057800-55058000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:55062000-55062800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr15:55062000-55062800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:55062200-55062600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr15:55062200-55062800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:55062400-55062800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr15:55062600-55064400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:55062800-55064400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:55062800-55064800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:55064400-55065000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr15:55064400-55065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr15:55064800-55065000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:55065000-55065400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:55065000-55070200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:55065600-55065800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr15:55068000-55068200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:55068400-55068600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr15:55070400-55070600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr15:55079600-55082400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:55079800-55082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:55080200-55081600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:55081400-55082000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:55081600-55082000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr15:55081600-55082000	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr15:55081600-55082400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr15:55082000-55082800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr15:55082400-55082600	Active TSS	Fetal Heart	heart
46	chr15:55082600-55090400	Weak transcription	Fetal Heart	heart
47	chr15:55084600-55085000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr15:55084600-55085000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:55084600-55085200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr15:55089600-55090800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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