Variant report

Variant	nsv1041692
Chromosome Location	chr15:46017726-46048854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 827 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs907924	chr15:46017726-46017727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369077102	chr15:46017800-46017801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561523644	chr15:46017801-46017802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530170634	chr15:46017819-46017820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144313185	chr15:46017880-46017881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560301087	chr15:46017888-46017889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532331952	chr15:46017916-46017917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140929002	chr15:46017931-46017932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575722719	chr15:46017932-46017933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182698184	chr15:46017945-46017946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370591657	chr15:46017961-46017962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537737018	chr15:46017975-46017976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10152920	chr15:46018083-46018084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568221641	chr15:46018084-46018085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185892045	chr15:46018129-46018130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553798788	chr15:46018130-46018131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576926418	chr15:46018176-46018177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539395128	chr15:46018309-46018310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546161366	chr15:46018316-46018317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10152989	chr15:46018323-46018324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs10152945	chr15:46018359-46018360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs561351756	chr15:46018361-46018362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574941935	chr15:46018391-46018392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540380702	chr15:46018400-46018401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560166092	chr15:46018419-46018420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533174425	chr15:46018443-46018444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532466042	chr15:46018543-46018544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144865419	chr15:46018557-46018558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562525883	chr15:46018641-46018642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11070469	chr15:46018681-46018682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs28453292	chr15:46018789-46018790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568181300	chr15:46018791-46018792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11070470	chr15:46018828-46018829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147955972	chr15:46018832-46018833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570609453	chr15:46018847-46018848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539532505	chr15:46018863-46018864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556229203	chr15:46018900-46018901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191154267	chr15:46018906-46018907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562067088	chr15:46018921-46018922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs61296707	chr15:46018944-46018945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs555203558	chr15:46018961-46018962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140218333	chr15:46018972-46018973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564471894	chr15:46018992-46018993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553935035	chr15:46019015-46019016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528579362	chr15:46019098-46019099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551310293	chr15:46019100-46019101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576957537	chr15:46019113-46019114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10152294	chr15:46019156-46019157	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs56747825	chr15:46019217-46019218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10152295	chr15:46019231-46019232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46012000-46020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:46012200-46020800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr15:46013600-46025200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:46016600-46025000	Weak transcription	Gastric	stomach
5	chr15:46020000-46021400	Enhancers	Fetal Brain Male	brain
6	chr15:46020600-46021200	Enhancers	Fetal Brain Female	brain
7	chr15:46020800-46021400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr15:46020800-46022200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:46021000-46021400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:46021000-46021600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:46021000-46021600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr15:46021000-46021800	Enhancers	HMEC	breast
13	chr15:46021000-46022200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:46021000-46022200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr15:46021000-46022200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:46021000-46022400	Enhancers	NHEK	skin
17	chr15:46021200-46021800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr15:46021200-46024400	Weak transcription	Fetal Brain Female	brain
19	chr15:46021400-46021600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr15:46021400-46021800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:46021400-46021800	Bivalent Enhancer	Hela-S3	cervix
22	chr15:46021400-46022400	Active TSS	Colon Smooth Muscle	Colon
23	chr15:46021400-46022400	Weak transcription	Fetal Brain Male	brain
24	chr15:46021600-46022000	Active TSS	Stomach Smooth Muscle	stomach
25	chr15:46022000-46022200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr15:46022200-46022400	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:46022200-46024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:46022200-46026000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:46022400-46022600	Enhancers	Fetal Brain Male	brain
30	chr15:46022400-46022800	Enhancers	Colon Smooth Muscle	Colon
31	chr15:46022400-46024800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:46022600-46023000	Weak transcription	Fetal Brain Male	brain
33	chr15:46022800-46024800	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:46023000-46028400	Enhancers	Fetal Brain Male	brain
35	chr15:46024200-46026600	Enhancers	Fetal Muscle Leg	muscle
36	chr15:46024400-46024600	Enhancers	Fetal Brain Female	brain
37	chr15:46024400-46025200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:46024400-46025400	Enhancers	Right Atrium	heart
39	chr15:46024400-46025600	Enhancers	Right Ventricle	heart
40	chr15:46024400-46026400	Enhancers	Brain Germinal Matrix	brain
41	chr15:46024400-46026600	Enhancers	Left Ventricle	heart
42	chr15:46024600-46025000	Weak transcription	Fetal Brain Female	brain
43	chr15:46024600-46025600	Enhancers	Fetal Heart	heart
44	chr15:46024800-46025000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:46024800-46025000	Enhancers	Stomach Smooth Muscle	stomach
46	chr15:46024800-46025200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:46024800-46025200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:46024800-46025600	Enhancers	Fetal Stomach	stomach
49	chr15:46024800-46025600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:46024800-46026600	Enhancers	Colon Smooth Muscle	Colon

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