Variant report

Variant	nsv94791
Chromosome Location	chr15:43454645-43458755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:43458624-43458643	Medullo	brain:	n/a	n/a
2	FOXA2	chr15:43458749-43459147	A549	lung:	n/a	n/a
3	NR2F2	chr15:43458755-43459052	K562	blood:	n/a	n/a
4	POLR2A	chr15:43456031-43456179	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:43457058-43457094	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr15:43458242-43458254	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:43456149..43457940-chr15:43469961..43472169,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TGM5-1	chr15:43458694-43459082	ucscGeneNc_uc001zvd_2

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000166947	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372223342	chr15:43454693-43454694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568668784	chr15:43454698-43454699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561571327	chr15:43454764-43454765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528032747	chr15:43454774-43454775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558624885	chr15:43454786-43454787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61125833	chr15:43455041-43455042	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182042299	chr15:43455059-43455060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375967111	chr15:43455073-43455074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539086201	chr15:43455111-43455112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556091860	chr15:43455125-43455126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115299869	chr15:43455132-43455133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564823837	chr15:43455139-43455140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529020782	chr15:43455157-43455158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550471156	chr15:43455162-43455163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145003431	chr15:43455170-43455171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535529632	chr15:43455179-43455180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186927399	chr15:43455202-43455203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571890428	chr15:43455282-43455283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540954825	chr15:43455288-43455289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191346573	chr15:43455306-43455307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143622951	chr15:43455371-43455372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545886420	chr15:43455388-43455389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562854883	chr15:43455389-43455390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531759972	chr15:43455393-43455394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398027039	chr15:43455397-43455398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542333988	chr15:43455408-43455409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181433371	chr15:43455428-43455429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539349892	chr15:43455432-43455433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575397303	chr15:43455452-43455453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562304619	chr15:43455453-43455454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561038510	chr15:43455458-43455459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527869360	chr15:43455479-43455480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534800732	chr15:43455614-43455615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564940058	chr15:43455674-43455675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552573906	chr15:43455708-43455709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185282976	chr15:43455709-43455710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189876945	chr15:43455719-43455720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375165840	chr15:43455751-43455752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569622734	chr15:43455752-43455753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368770385	chr15:43455807-43455808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535204214	chr15:43455865-43455866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373031916	chr15:43455887-43455888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565407865	chr15:43455897-43455898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534523906	chr15:43455904-43455905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369659147	chr15:43455926-43455927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372803806	chr15:43455979-43455980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35785234	chr15:43455980-43455981	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144925720	chr15:43455983-43455984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11406648	chr15:43455988-43455989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs397789988	chr15:43455989-43455990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Renal cell carcinoma	18765545	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43426800-43455800	Weak transcription	Fetal Lung	lung
2	chr15:43426800-43465400	Weak transcription	Psoas Muscle	Psoas
3	chr15:43427600-43475000	Weak transcription	Stomach Mucosa	stomach
4	chr15:43433200-43460600	Weak transcription	Right Ventricle	heart
5	chr15:43433400-43460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr15:43433400-43460400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:43433400-43460400	Weak transcription	Spleen	Spleen
8	chr15:43433400-43460600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:43433400-43460600	Weak transcription	Gastric	stomach
10	chr15:43433400-43467600	Weak transcription	HSMM	muscle
11	chr15:43433600-43460400	Weak transcription	Pancreas	Pancrea
12	chr15:43433600-43460400	Weak transcription	Thymus	Thymus
13	chr15:43434000-43460400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:43437000-43460400	Weak transcription	K562	blood
15	chr15:43437000-43467200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:43437200-43462000	Weak transcription	Dnd41	blood
17	chr15:43438000-43457600	Strong transcription	Liver	Liver
18	chr15:43438000-43457800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr15:43438000-43458400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:43438000-43458400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr15:43438000-43458400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:43438000-43458400	Strong transcription	Adipose Nuclei	Adipose
23	chr15:43438000-43458600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:43438400-43457600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:43440800-43476800	Weak transcription	Fetal Brain Male	brain
26	chr15:43441800-43477200	Weak transcription	HSMMtube	muscle
27	chr15:43442000-43461200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:43442000-43476800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:43442600-43460600	Weak transcription	NHLF	lung
30	chr15:43442800-43460400	Weak transcription	NH-A	brain
31	chr15:43442800-43460600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:43443000-43460600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:43443000-43467600	Weak transcription	Aorta	Aorta
34	chr15:43443200-43460800	Weak transcription	Colonic Mucosa	Colon
35	chr15:43443200-43460800	Weak transcription	HUVEC	blood vessel
36	chr15:43443400-43460400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr15:43444600-43477200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr15:43444800-43465400	Weak transcription	Brain Germinal Matrix	brain
39	chr15:43444800-43471600	Weak transcription	Primary T cells from cord blood	blood
40	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr15:43444800-43477000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:43445000-43460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:43445000-43471600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:43445600-43460600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:43445800-43458400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:43446000-43476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:43446200-43456600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:43446400-43458000	Weak transcription	HMEC	breast
49	chr15:43446800-43457400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:43447000-43460600	Weak transcription	Fetal Heart	heart

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