Variant report

Variant	esv3343834
Chromosome Location	chr15:34146400-34146972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AVEN-2	chr15:34146115-34147146	NONHSAT041555

Extended variants
information (count: 32 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528549831	chr15:34146428-34146429	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563928917	chr15:34146518-34146519	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs371876112	chr15:34146520-34146521	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529620220	chr15:34146522-34146523	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73372097	chr15:34146540-34146541	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115350570	chr15:34146559-34146560	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs185418626	chr15:34146561-34146562	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs41279242	chr15:34146562-34146563	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs377310965	chr15:34146601-34146602	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs555103509	chr15:34146610-34146611	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567024433	chr15:34146650-34146651	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs369682517	chr15:34146694-34146695	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs369733746	chr15:34146697-34146698	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534077634	chr15:34146719-34146720	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs577200017	chr15:34146734-34146735	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs114232918	chr15:34146755-34146756	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs530976276	chr15:34146774-34146775	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2303308	chr15:34146783-34146784	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs141633392	chr15:34146792-34146793	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552462361	chr15:34146811-34146812	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528638295	chr15:34146821-34146822	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs571104995	chr15:34146851-34146852	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs147043612	chr15:34146866-34146867	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs570765033	chr15:34146872-34146873	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs713201	chr15:34146886-34146887	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs550917761	chr15:34146903-34146904	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs713203	chr15:34146922-34146923	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs376375066	chr15:34146931-34146932	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs189400814	chr15:34146947-34146948	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs548890968	chr15:34146949-34146950	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs202155048	chr15:34146954-34146955	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs201701548	chr15:34146963-34146964	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34090600-34151800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:34091800-34151000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:34114400-34149400	Weak transcription	Fetal Stomach	stomach
4	chr15:34121400-34158400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:34124400-34146800	Weak transcription	Brain Substantia Nigra	brain
6	chr15:34124400-34148600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr15:34124400-34151200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:34127800-34147800	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:34129800-34151600	Weak transcription	Fetal Brain Female	brain
10	chr15:34130000-34151000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:34130800-34151200	Weak transcription	Aorta	Aorta
12	chr15:34130800-34158600	Weak transcription	Brain Germinal Matrix	brain
13	chr15:34131200-34146800	Weak transcription	Brain Anterior Caudate	brain
14	chr15:34132200-34146400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:34137400-34164200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:34138000-34148200	Weak transcription	Spleen	Spleen
17	chr15:34138600-34146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:34138600-34151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:34139800-34156400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr15:34139800-34164200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:34141600-34149400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:34142400-34146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr15:34142400-34168600	Weak transcription	Esophagus	oesophagus
24	chr15:34143000-34165000	Weak transcription	Psoas Muscle	Psoas
25	chr15:34143400-34160400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:34143600-34164200	Weak transcription	Brain Angular Gyrus	brain
27	chr15:34143800-34156200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:34144200-34146800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr15:34144400-34151000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:34144600-34151600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:34145000-34152200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:34145000-34152200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:34145000-34158200	Weak transcription	Gastric	stomach
34	chr15:34145000-34161200	Weak transcription	Small Intestine	intestine
35	chr15:34145200-34151000	Weak transcription	Placenta	Placenta
36	chr15:34145200-34152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:34145200-34152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:34145200-34152200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:34145200-34152200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:34145200-34152200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:34145200-34152200	Weak transcription	HMEC	breast
42	chr15:34145400-34146800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:34145400-34149800	Weak transcription	HSMMtube	muscle
44	chr15:34145400-34152200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:34145400-34152200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:34145400-34152800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:34145400-34156600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr15:34145600-34151200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:34145600-34154200	Strong transcription	Fetal Muscle Leg	muscle
50	chr15:34145600-34158200	Weak transcription	Primary hematopoietic stem cells	blood

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