Variant report

Variant	nsv977734
Chromosome Location	chr15:73453781-73455781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr15:73454931-73455140	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr15:73455012-73455108	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr15:73455038-73455057	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr15:73454936-73455074	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr15:73455000-73455024	K562	blood:	n/a	n/a
6	POLR2A	chr15:73453792-73453979	K562	blood:	n/a	n/a
7	POLR2A	chr15:73454203-73454642	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:73414122..73416598-chr15:73451749..73454590,2	MCF-7	breast:
2	chr15:73453141..73455526-chr15:73455675..73457846,2	K562	blood:
3	chr15:73449463..73451075-chr15:73451794..73454608,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HCN4-3	chr15:73454120-73454673	NONHSAT047134
2	lnc-HCN4-3	chr15:73455038-73455269	NONHSAT047134

No data

Variant related genes	Relation type
NPM1P43	TF binding region
ENSG00000067141	chromatin interactions
ENSG00000259440	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531157285	chr15:73453792-73453793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12050774	chr15:73453815-73453816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544062208	chr15:73453827-73453828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113097325	chr15:73453852-73453853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs35936120	chr15:73453860-73453861	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532721510	chr15:73453861-73453862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541265689	chr15:73453937-73453938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559810631	chr15:73453940-73453941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148005442	chr15:73454016-73454017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183562414	chr15:73454047-73454048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566888067	chr15:73454080-73454081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372570028	chr15:73454099-73454100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550027770	chr15:73454103-73454104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571485098	chr15:73454136-73454137	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs538818798	chr15:73454146-73454147	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs554056863	chr15:73454172-73454173	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs565887285	chr15:73454183-73454184	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs114719429	chr15:73454194-73454195	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs188792210	chr15:73454197-73454198	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs1479335	chr15:73454213-73454214	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138616485	chr15:73454252-73454253	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs559190986	chr15:73454286-73454287	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs1479336	chr15:73454308-73454309	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541327222	chr15:73454316-73454317	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs559479852	chr15:73454320-73454321	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs530245254	chr15:73454340-73454341	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs369657383	chr15:73454358-73454359	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs564467152	chr15:73454389-73454390	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs192380751	chr15:73454422-73454423	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs542287316	chr15:73454423-73454424	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs560847796	chr15:73454465-73454466	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs75097671	chr15:73454484-73454485	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs549553366	chr15:73454570-73454571	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs34350978	chr15:73454576-73454577	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs571516961	chr15:73454599-73454600	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs532403604	chr15:73454612-73454613	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs143335992	chr15:73454618-73454619	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs147524182	chr15:73454631-73454632	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs182443282	chr15:73454720-73454721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112258191	chr15:73454725-73454726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370140426	chr15:73454726-73454727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs33954271	chr15:73454752-73454753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55742918	chr15:73454818-73454819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540879823	chr15:73454820-73454821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537447524	chr15:73454822-73454823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149612012	chr15:73454841-73454842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371841223	chr15:73454847-73454848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529503568	chr15:73454852-73454853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144309912	chr15:73454882-73454883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553272627	chr15:73454906-73454907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73414400-73458200	Weak transcription	Colonic Mucosa	Colon
3	chr15:73429000-73456600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:73430200-73466600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:73431800-73453800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr15:73443600-73456600	Weak transcription	Fetal Kidney	kidney
7	chr15:73445600-73457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:73447200-73470000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:73447600-73457800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:73447600-73457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:73447800-73458000	Weak transcription	Brain Angular Gyrus	brain
12	chr15:73448000-73457000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:73448000-73469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:73448600-73455800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:73448800-73454400	Weak transcription	Psoas Muscle	Psoas
16	chr15:73448800-73458000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:73448800-73458000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:73449000-73454400	Weak transcription	Aorta	Aorta
19	chr15:73449000-73458000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr15:73449200-73458000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:73449200-73458400	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:73449200-73469000	Weak transcription	Ovary	ovary
23	chr15:73449400-73466600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:73449800-73454600	Weak transcription	Lung	lung
25	chr15:73449800-73456600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:73449800-73457800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:73450000-73453800	Weak transcription	Fetal Lung	lung
28	chr15:73450000-73453800	Weak transcription	Fetal Stomach	stomach
29	chr15:73450000-73454400	Weak transcription	Brain Hippocampus Middle	brain
30	chr15:73450000-73454600	Weak transcription	Brain Substantia Nigra	brain
31	chr15:73450000-73454800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:73450000-73457400	Weak transcription	Fetal Intestine Large	intestine
33	chr15:73450000-73457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:73450000-73457800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:73450000-73458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:73450000-73475400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:73450000-73477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:73451000-73457800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:73451400-73456000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:73451400-73456400	Weak transcription	Fetal Intestine Small	intestine
41	chr15:73452200-73461200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr15:73452200-73470000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:73453000-73454800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:73453200-73455200	Enhancers	Brain Cingulate Gyrus	brain
45	chr15:73453200-73458400	Weak transcription	Gastric	stomach
46	chr15:73453800-73454800	Enhancers	Fetal Lung	lung
47	chr15:73453800-73455000	Enhancers	Fetal Stomach	stomach
48	chr15:73453800-73455200	Enhancers	Rectal Smooth Muscle	rectum
49	chr15:73454000-73454600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr15:73454000-73454800	Enhancers	Right Atrium	heart

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