Variant report

Variant	nsv976935
Chromosome Location	chr15:51739734-51740998
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:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51734735..51737717-chr15:51738813..51740698,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLDN-3	chr15:51740655-51740811	ENSG00000259678.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	DMXL2	hsa-miR-19b-3p	chr15:51740556-51740579
2	DMXL2	hsa-miR-19b-3p	chr15:51740562-51740555
3	DMXL2	hsa-miR-26b-5p	chr15:51740885-51740905

Extended variants
information (count: 51 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7164265	chr15:51739808-51739809	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372740163	chr15:51739814-51739815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189199587	chr15:51739827-51739828	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541039391	chr15:51739866-51739867	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553382878	chr15:51739924-51739925	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557204774	chr15:51739942-51739943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575383311	chr15:51739947-51739948	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559060611	chr15:51739966-51739967	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73399515	chr15:51740006-51740007	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150142883	chr15:51740020-51740021	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375907156	chr15:51740021-51740022	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539803025	chr15:51740048-51740049	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561361530	chr15:51740069-51740070	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573372588	chr15:51740079-51740080	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544273591	chr15:51740081-51740082	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116652433	chr15:51740091-51740092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529144414	chr15:51740169-51740170	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377624390	chr15:51740225-51740226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138427742	chr15:51740233-51740234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76328997	chr15:51740235-51740236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564721733	chr15:51740254-51740255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565980211	chr15:51740358-51740359	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541548564	chr15:51740372-51740373	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs8040730	chr15:51740389-51740390	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546991479	chr15:51740395-51740396	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180672401	chr15:51740456-51740457	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535518224	chr15:51740483-51740484	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551046592	chr15:51740490-51740491	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371704325	chr15:51740535-51740536	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569299934	chr15:51740542-51740543	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373030881	chr15:51740550-51740551	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186444496	chr15:51740552-51740553	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561509742	chr15:51740576-51740577	Weak transcription Strong transcription Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
34	rs557542675	chr15:51740579-51740580	Weak transcription Strong transcription Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
35	rs572766875	chr15:51740662-51740663	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs531917398	chr15:51740666-51740667	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs533855155	chr15:51740676-51740677	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs554926062	chr15:51740696-51740697	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573317184	chr15:51740700-51740701	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs12440288	chr15:51740717-51740718	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573566133	chr15:51740740-51740741	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs10654455	chr15:51740745-51740746	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs33942576	chr15:51740746-51740747	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs543909290	chr15:51740821-51740822	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370444907	chr15:51740844-51740845	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147387782	chr15:51740846-51740847	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546376560	chr15:51740850-51740851	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375021789	chr15:51740870-51740871	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137899703	chr15:51740871-51740872	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533448553	chr15:51740979-51740980	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51707400-51740200	Weak transcription	Brain Hippocampus Middle	brain
2	chr15:51731000-51740600	Weak transcription	Brain Substantia Nigra	brain
3	chr15:51732000-51740600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:51732800-51740200	Weak transcription	K562	blood
5	chr15:51733000-51740600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:51733800-51740000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:51734000-51740600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:51734600-51748800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:51734800-51740600	Weak transcription	Lung	lung
10	chr15:51735200-51742000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:51735400-51741200	Weak transcription	Brain Germinal Matrix	brain
12	chr15:51735600-51741000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:51735800-51740600	Weak transcription	Spleen	Spleen
14	chr15:51735800-51742000	Weak transcription	Fetal Kidney	kidney
15	chr15:51736000-51741200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:51736200-51740600	Weak transcription	Fetal Stomach	stomach
17	chr15:51736600-51741400	Weak transcription	Fetal Thymus	thymus
18	chr15:51736800-51751200	Weak transcription	HUVEC	blood vessel
19	chr15:51737000-51740600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:51737000-51775600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:51737000-51776400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:51737200-51741600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:51737400-51740600	Weak transcription	Primary T cells from cord blood	blood
24	chr15:51737400-51740600	Weak transcription	Fetal Lung	lung
25	chr15:51737400-51740600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:51737400-51749000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:51737400-51750200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:51737600-51741600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:51737600-51749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:51737600-51762400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:51737800-51740600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr15:51737800-51740600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:51737800-51741200	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:51737800-51748800	Weak transcription	NHDF-Ad	bronchial
35	chr15:51737800-51758400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:51737800-51762400	Weak transcription	Colonic Mucosa	Colon
37	chr15:51738000-51739800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:51738000-51739800	Enhancers	HMEC	breast
39	chr15:51738000-51740200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:51738000-51742000	Weak transcription	NH-A	brain
41	chr15:51738000-51755400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:51738200-51740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:51738200-51740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:51738200-51741000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:51738200-51741000	Weak transcription	Dnd41	blood
46	chr15:51738200-51748800	Weak transcription	Fetal Brain Male	brain
47	chr15:51738200-51784600	Weak transcription	Stomach Mucosa	stomach
48	chr15:51738400-51777400	Weak transcription	Small Intestine	intestine
49	chr15:51738600-51739800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:51738600-51741200	Weak transcription	NHLF	lung

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