Variant report

Variant	nsv984057
Chromosome Location	chr15:41590328-41596272
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:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41593982..41596712-chr15:41614556..41616645,2	K562	blood:
2	chr15:41593303..41595155-chr15:41597240..41599899,2	K562	blood:
3	chr12:81126191..81126857-chr15:41594956..41595757,2	MCF-7	breast:
4	chr15:41574707..41576422-chr15:41588178..41590438,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OIP5-1	chr15:41590239-41594387	XLOC_011448
2	lnc-AC012652.1.1-1	chr15:41594573-41598729	NONHSAT041936
3	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226
4	lnc-OIP5-1	chr15:41588773-41598741	XLOC_011448
5	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226

No data

Variant related genes	Relation type
ENSG00000247556	chromatin interactions
DICER1	miRNA target sites
LDLRAP1	miRNA target sites

Extended variants
information (count: 206 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183138535	chr15:41590360-41590361	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs576643167	chr15:41590417-41590418	Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs541858786	chr15:41590464-41590465	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs371439141	chr15:41590494-41590495	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370123479	chr15:41590500-41590501	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs187068629	chr15:41590563-41590564	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572459756	chr15:41590774-41590775	Strong transcription Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541116379	chr15:41590816-41590817	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564272600	chr15:41590957-41590958	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs1129507	chr15:41590973-41590974	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs191562210	chr15:41590985-41590986	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs541583569	chr15:41590987-41590988	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs184336902	chr15:41591024-41591025	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs532240748	chr15:41591025-41591026	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs112493245	chr15:41591087-41591088	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs59034095	chr15:41591139-41591140	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549203158	chr15:41591142-41591143	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs563971238	chr15:41591149-41591150	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs145136270	chr15:41591168-41591169	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs531588563	chr15:41591255-41591256	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs55838056	chr15:41591280-41591281	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369316085	chr15:41591299-41591300	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554917202	chr15:41591315-41591316	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs558836122	chr15:41591319-41591320	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527288546	chr15:41591325-41591326	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562221347	chr15:41591348-41591349	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547120607	chr15:41591361-41591362	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570515401	chr15:41591364-41591365	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs78686583	chr15:41591372-41591373	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs539663306	chr15:41591424-41591425	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs3210775	chr15:41591451-41591452	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs556691177	chr15:41591462-41591463	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141502590	chr15:41591463-41591464	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536193286	chr15:41591464-41591465	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs80024738	chr15:41591475-41591476	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs187227465	chr15:41591516-41591517	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs192651905	chr15:41591531-41591532	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs558299065	chr15:41591541-41591542	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs578023455	chr15:41591567-41591568	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs185663544	chr15:41591596-41591597	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs200324422	chr15:41591655-41591656	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs72739617	chr15:41591656-41591657	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376776094	chr15:41591685-41591686	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs560065561	chr15:41591701-41591702	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs531397657	chr15:41591708-41591709	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556524517	chr15:41591735-41591736	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs541769276	chr15:41591835-41591836	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs7162231	chr15:41591859-41591860	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs528129686	chr15:41591862-41591863	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs527325359	chr15:41591878-41591879	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
3	chr15:41577800-41591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:41578000-41591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:41578200-41591800	Strong transcription	Fetal Stomach	stomach
6	chr15:41578200-41592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:41578400-41592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:41578800-41591800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:41579200-41593200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:41580000-41592600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
13	chr15:41581000-41593200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:41581200-41592200	Weak transcription	Brain Angular Gyrus	brain
15	chr15:41581200-41592200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:41581200-41592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:41581200-41593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:41581200-41595200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:41581200-41596000	Weak transcription	Small Intestine	intestine
20	chr15:41581200-41598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:41581200-41601400	Weak transcription	NHDF-Ad	bronchial
22	chr15:41581200-41602200	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:41581200-41602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr15:41581200-41604800	Weak transcription	Gastric	stomach
25	chr15:41581200-41605000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:41581200-41607000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:41581200-41609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
29	chr15:41581400-41605000	Weak transcription	HMEC	breast
30	chr15:41581400-41610400	Weak transcription	NHLF	lung
31	chr15:41581600-41590800	Weak transcription	Osteobl	bone
32	chr15:41581600-41592200	Weak transcription	NH-A	brain
33	chr15:41581600-41601800	Weak transcription	Fetal Lung	lung
34	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
35	chr15:41581800-41591600	Strong transcription	Fetal Intestine Small	intestine
36	chr15:41581800-41592000	Weak transcription	A549	lung
37	chr15:41582600-41593600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr15:41583200-41591000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr15:41583200-41623600	Weak transcription	HSMM	muscle
40	chr15:41583400-41590600	Strong transcription	Primary T cells from cord blood	blood
41	chr15:41583600-41592800	Strong transcription	Fetal Thymus	thymus
42	chr15:41583800-41613000	Weak transcription	Right Ventricle	heart
43	chr15:41584000-41604800	Weak transcription	Aorta	Aorta
44	chr15:41585000-41602800	Weak transcription	Colon Smooth Muscle	Colon
45	chr15:41585400-41593400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:41585600-41591600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:41585600-41592800	Strong transcription	Fetal Intestine Large	intestine
48	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
49	chr15:41586000-41593400	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:41586200-41590800	Strong transcription	GM12878-XiMat	blood

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