Variant report

Variant	nsv520731
Chromosome Location	chr15:58623408-58623525
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:3)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
2	chr15:58623181..58625459-chr15:58764481..58766715,2	MCF-7	breast:
3	chr15:58356493..58358577-chr15:58620625..58623547,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-9	chr15:58623378-58623829	NONHSAT044104
2	lnc-ADAM10-9	chr15:58623378-58623578	NONHSAT044107
3	lnc-ADAM10-9	chr15:58623378-58623663	NONHSAT044106

No data

Variant related genes	Relation type
ENSG00000128923	chromatin interactions
ENSG00000245975	chromatin interactions
ENSG00000128918	chromatin interactions
ENSG00000259285	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1552505	chr15:58623408-58623409	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116291964	chr15:58623413-58623414	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs142787250	chr15:58623418-58623419	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs1122207	chr15:58623424-58623425	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536790521	chr15:58623437-58623438	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs150801356	chr15:58623444-58623445	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs12905748	chr15:58623465-58623466	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539440894	chr15:58623502-58623503	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs1122208	chr15:58623525-58623526	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:62)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58621200-58624000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:58621200-58624800	Enhancers	Primary T cells from cord blood	blood
3	chr15:58621400-58624200	Flanking Active TSS	Liver	Liver
4	chr15:58621400-58625200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr15:58621800-58624400	Enhancers	Fetal Kidney	kidney
6	chr15:58621800-58625400	Enhancers	Primary B cells from cord blood	blood
7	chr15:58622000-58623600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:58622000-58623600	Enhancers	Small Intestine	intestine
9	chr15:58622000-58623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:58622000-58623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr15:58622000-58624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:58622000-58624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:58622000-58624000	Enhancers	Stomach Smooth Muscle	stomach
14	chr15:58622000-58624200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr15:58622000-58624400	Flanking Active TSS	Hela-S3	cervix
16	chr15:58622000-58624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr15:58622000-58624600	Enhancers	Thymus	Thymus
18	chr15:58622000-58625000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:58622000-58625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:58622000-58625200	Enhancers	Colonic Mucosa	Colon
21	chr15:58622000-58625400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr15:58622000-58625400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:58622000-58625400	Enhancers	Fetal Muscle Leg	muscle
24	chr15:58622000-58625400	Enhancers	Fetal Thymus	thymus
25	chr15:58622000-58625400	Flanking Active TSS	HepG2	liver
26	chr15:58622000-58625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr15:58622000-58625600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:58622000-58625800	Enhancers	Esophagus	oesophagus
29	chr15:58622000-58626000	Enhancers	Fetal Stomach	stomach
30	chr15:58622000-58626000	Enhancers	Left Ventricle	heart
31	chr15:58622000-58626000	Enhancers	Pancreas	Pancrea
32	chr15:58622000-58626000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr15:58622000-58626000	Enhancers	Right Atrium	heart
34	chr15:58622000-58627200	Enhancers	Placenta	Placenta
35	chr15:58622200-58623600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:58622200-58623600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:58622200-58623600	Enhancers	Gastric	stomach
38	chr15:58622200-58623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:58622200-58623800	Enhancers	Brain Anterior Caudate	brain
40	chr15:58622200-58623800	Enhancers	Lung	lung
41	chr15:58622200-58624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:58622200-58624000	Enhancers	Brain Cingulate Gyrus	brain
43	chr15:58622200-58624000	Enhancers	Brain Hippocampus Middle	brain
44	chr15:58622200-58624000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr15:58622200-58624600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr15:58622200-58625200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr15:58622200-58625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr15:58622200-58625200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:58622200-58625200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:58622200-58625400	Enhancers	NHEK	skin

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