Variant report

Variant	esv14767
Chromosome Location	chr15:41595813-41619355
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:17)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41593303..41595155-chr15:41597240..41599899,2	K562	blood:
2	chr15:41600052..41601763-chr15:41618801..41620323,2	K562	blood:
3	chr15:41574968..41578367-chr15:41600315..41603711,4	K562	blood:
4	chr15:41593982..41596712-chr15:41614556..41616645,2	K562	blood:
5	chr15:41601722..41603239-chr15:41610507..41613182,2	K562	blood:
6	chr15:41612185..41616768-chr15:41623062..41627065,8	K562	blood:
7	chr15:41605347..41607795-chr15:41612892..41615353,2	K562	blood:
8	chr15:41600052..41601763-chr15:41618801..41620323,2	K562	blood:
9	chr15:41601722..41604409-chr15:41611682..41614263,2	K562	blood:
10	chr15:41601722..41604409-chr15:41611682..41614263,2	K562	blood:
11	chr15:41601722..41603239-chr15:41610507..41613182,2	K562	blood:
12	chr15:41605347..41607795-chr15:41612892..41615353,2	K562	blood:
13	chr15:41579631..41582972-chr15:41599254..41603170,4	K562	blood:
14	chr15:41613687..41621293-chr15:41621885..41628052,14	K562	blood:
15	chr15:41581131..41583433-chr15:41618949..41620567,2	K562	blood:
16	chr15:41593982..41596712-chr15:41614556..41616645,2	K562	blood:
17	chr15:41577922..41579765-chr15:41608421..41610575,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012652.1.1-1	chr15:41600918-41601901	ENSG00000247556
2	lnc-AC012652.1.1-1	chr15:41594573-41598729	NONHSAT041936
3	lnc-AC012652.1.1-1	chr15:41600765-41600822	ENSG00000247556
4	lnc-OIP5-1	chr15:41597681-41598727	XLOC_011448
5	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226
6	lnc-AC012652.1.1-1	chr15:41590239-41598727	XLOC_011226
7	lnc-OIP5-1	chr15:41588773-41598741	XLOC_011448

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	OIP5	hsa-miR-16-5p	chr15:41601887-41601907

Variant related genes	Relation type
ENSG00000137804	chromatin interactions
ENSG00000247556	chromatin interactions
ENSG00000104147	chromatin interactions
LDLRAP1	miRNA target sites
DICER1	miRNA target sites
CD46	miRNA target sites

Extended variants
information (count: 928 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:928 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571397854	chr15:41595819-41595820	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs537229157	chr15:41595827-41595828	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1062241	chr15:41595919-41595920	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs183833303	chr15:41595946-41595947	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531390282	chr15:41595984-41595985	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs567533647	chr15:41596022-41596023	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs548219700	chr15:41596028-41596029	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs536276521	chr15:41596035-41596036	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs552960514	chr15:41596043-41596044	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs572906865	chr15:41596053-41596054	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs538399234	chr15:41596069-41596070	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs558619150	chr15:41596120-41596121	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs534012234	chr15:41596160-41596161	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs555471392	chr15:41596161-41596162	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs573869481	chr15:41596181-41596182	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs575780117	chr15:41596193-41596194	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs372300954	chr15:41596215-41596216	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs561266359	chr15:41596239-41596240	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376432754	chr15:41596241-41596242	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs145829907	chr15:41596333-41596334	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs2289299	chr15:41596400-41596401	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs116959877	chr15:41596431-41596432	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs532534227	chr15:41596491-41596492	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs552418686	chr15:41596530-41596531	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs112128974	chr15:41596546-41596547	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562985449	chr15:41596548-41596549	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs191941326	chr15:41596552-41596553	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs368788876	chr15:41596579-41596580	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs550768599	chr15:41596598-41596599	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs567571755	chr15:41596599-41596600	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs184083494	chr15:41596659-41596660	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs546866880	chr15:41596660-41596661	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs544421217	chr15:41596707-41596708	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556778776	chr15:41596771-41596772	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs113746873	chr15:41596779-41596780	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545730715	chr15:41596863-41596864	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538610698	chr15:41596865-41596866	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs77739808	chr15:41596866-41596867	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs182042150	chr15:41596893-41596894	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs538051586	chr15:41596903-41596904	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs554701172	chr15:41596906-41596907	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs2289298	chr15:41596907-41596908	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527317758	chr15:41596913-41596914	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs542716464	chr15:41596954-41596955	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs374809345	chr15:41596985-41596986	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs190646878	chr15:41596993-41596994	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs138740947	chr15:41597017-41597018	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs577202679	chr15:41597022-41597023	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546145020	chr15:41597053-41597054	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs142682837	chr15:41597065-41597066	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:437 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
5	chr15:41581200-41596000	Weak transcription	Small Intestine	intestine
6	chr15:41581200-41598400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:41581200-41601400	Weak transcription	NHDF-Ad	bronchial
8	chr15:41581200-41602200	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:41581200-41602600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr15:41581200-41604800	Weak transcription	Gastric	stomach
11	chr15:41581200-41605000	Weak transcription	Brain Substantia Nigra	brain
12	chr15:41581200-41607000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:41581200-41609600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
15	chr15:41581400-41605000	Weak transcription	HMEC	breast
16	chr15:41581400-41610400	Weak transcription	NHLF	lung
17	chr15:41581600-41601800	Weak transcription	Fetal Lung	lung
18	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
19	chr15:41583200-41623600	Weak transcription	HSMM	muscle
20	chr15:41583800-41613000	Weak transcription	Right Ventricle	heart
21	chr15:41584000-41604800	Weak transcription	Aorta	Aorta
22	chr15:41585000-41602800	Weak transcription	Colon Smooth Muscle	Colon
23	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
24	chr15:41587200-41606800	Weak transcription	Fetal Heart	heart
25	chr15:41587600-41623000	Weak transcription	NHEK	skin
26	chr15:41588400-41600600	Weak transcription	Hela-S3	cervix
27	chr15:41589400-41601800	Weak transcription	K562	blood
28	chr15:41589400-41603600	Weak transcription	Spleen	Spleen
29	chr15:41589400-41604800	Weak transcription	Pancreas	Pancrea
30	chr15:41589600-41604800	Weak transcription	Lung	lung
31	chr15:41589600-41624000	Weak transcription	Esophagus	oesophagus
32	chr15:41590200-41601800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr15:41590200-41609200	Weak transcription	Colonic Mucosa	Colon
34	chr15:41590200-41623600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr15:41590400-41597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:41590400-41600000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:41590600-41601800	Weak transcription	Primary T cells from cord blood	blood
38	chr15:41590600-41602000	Weak transcription	Brain Germinal Matrix	brain
39	chr15:41590600-41603000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:41590600-41606800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:41590600-41623000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:41590800-41623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr15:41591000-41606600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:41591200-41605000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:41591200-41623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:41591200-41624000	Weak transcription	HSMMtube	muscle
47	chr15:41591600-41596600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:41591600-41599800	Weak transcription	Fetal Intestine Small	intestine
49	chr15:41591600-41600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:41591600-41601000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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