Variant report

Variant	nsv528511
Chromosome Location	chr15:82391287-82404705
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:18)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:82394736..82396289-chr15:82399463..82401078,2	MCF-7	breast:
2	chr15:82400531..82401257-chr15:82431919..82432522,2	MCF-7	breast:
3	chr15:82390762..82392949-chr15:82398564..82402214,3	K562	blood:
4	chr15:82336857..82340285-chr15:82395789..82397569,3	MCF-7	breast:
5	chr15:82390762..82392949-chr15:82398564..82402214,3	K562	blood:
6	chr15:81772882..81773555-chr15:82397557..82398455,2	K562	blood:
7	chr15:82400583..82401510-chr15:82431758..82433239,16	MCF-7	breast:
8	chr15:82400569..82401498-chr15:82490090..82491041,4	K562	blood:
9	chr15:82400526..82401456-chr15:82490044..82491282,10	MCF-7	breast:
10	chr15:82403068..82405226-chr15:82430485..82432551,2	K562	blood:
11	chr15:82394736..82396289-chr15:82399463..82401078,2	MCF-7	breast:
12	chr15:82337307..82338833-chr15:82401935..82404513,2	MCF-7	breast:
13	chr15:82396164..82398346-chr15:82406284..82408349,2	K562	blood:
14	chr15:82336811..82339430-chr15:82392148..82395651,3	MCF-7	breast:
15	chr15:82105377..82106205-chr15:82395564..82396156,2	MCF-7	breast:
16	chr15:82386362..82388607-chr15:82391684..82394477,4	K562	blood:
17	chr15:82401295..82402881-chr15:82407665..82409375,2	K562	blood:
18	chr15:82400510..82401451-chr15:82489931..82491014,9	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-597K23.2.1-2	chr15:82391267-82391320	XLOC_011331
2	lnc-RP11-597K23.2.1-2	chr15:82391746-82393834	XLOC_011331
3	lnc-RP11-597K23.2.1-2	chr15:82390362-82395263	NONHSAT047767

No data

Variant related genes	Relation type
ENSG00000183496	chromatin interactions

Extended variants
information (count: 613 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1827487	chr15:82391287-82391288	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180798548	chr15:82391304-82391305	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs1827486	chr15:82391333-82391334	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550178143	chr15:82391367-82391368	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs149842045	chr15:82391374-82391375	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs368551827	chr15:82391423-82391424	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs56143459	chr15:82391472-82391473	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs113097483	chr15:82391522-82391523	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs553081660	chr15:82391525-82391526	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566542058	chr15:82391532-82391533	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535665122	chr15:82391550-82391551	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs555671398	chr15:82391643-82391644	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs370826555	chr15:82391660-82391661	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575622585	chr15:82391678-82391679	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs11073033	chr15:82391732-82391733	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs2665121	chr15:82391756-82391757	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs147952270	chr15:82391773-82391774	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs34663786	chr15:82391783-82391784	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs545970376	chr15:82391786-82391787	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs183732829	chr15:82391805-82391806	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs11855879	chr15:82391807-82391808	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs145548797	chr15:82391808-82391809	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs562010653	chr15:82391837-82391838	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs531120836	chr15:82391871-82391872	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs534925503	chr15:82391900-82391901	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs189835499	chr15:82391916-82391917	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs532986481	chr15:82391955-82391956	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs74770378	chr15:82391987-82391988	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544995179	chr15:82391995-82391996	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546354413	chr15:82392000-82392001	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566580495	chr15:82392004-82392005	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs535259563	chr15:82392008-82392009	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs181435062	chr15:82392023-82392024	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563549244	chr15:82392034-82392035	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs186601254	chr15:82392055-82392056	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs147600054	chr15:82392061-82392062	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538133114	chr15:82392062-82392063	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs558125143	chr15:82392063-82392064	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs575555760	chr15:82392071-82392072	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs113706341	chr15:82392075-82392076	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs539849561	chr15:82392080-82392081	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs560943550	chr15:82392090-82392091	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528590662	chr15:82392095-82392096	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573303759	chr15:82392107-82392108	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs541979853	chr15:82392108-82392109	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs561949962	chr15:82392114-82392115	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575480728	chr15:82392119-82392120	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs12593799	chr15:82392146-82392147	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs191397742	chr15:82392163-82392164	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs565154589	chr15:82392174-82392175	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82384800-82392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:82386600-82392600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr15:82387000-82392400	Weak transcription	Osteobl	bone
4	chr15:82387600-82392400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:82387800-82391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:82388000-82392600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:82391000-82391800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:82391200-82391400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:82391200-82391400	Enhancers	Fetal Muscle Leg	muscle
10	chr15:82391400-82392400	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:82391400-82392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:82391600-82393600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:82392200-82392400	Enhancers	HSMMtube	muscle
14	chr15:82392200-82393200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:82392200-82393400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:82392200-82393400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:82392200-82393400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:82392200-82393400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:82392200-82393400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:82392200-82393600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr15:82392200-82393600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:82392400-82392600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:82392400-82392800	Flanking Active TSS	HSMMtube	muscle
24	chr15:82392400-82393000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr15:82392400-82393000	Enhancers	Osteobl	bone
26	chr15:82392400-82393200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:82392400-82393200	Enhancers	Fetal Muscle Leg	muscle
28	chr15:82392400-82393200	Enhancers	Fetal Stomach	stomach
29	chr15:82392400-82393400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr15:82392400-82393400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:82392400-82393400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr15:82392400-82393400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:82392400-82393400	Enhancers	HSMM	muscle
34	chr15:82392400-82393600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:82392400-82393600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr15:82392400-82393600	Enhancers	Fetal Kidney	kidney
37	chr15:82392400-82393800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr15:82392600-82392800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:82392600-82392800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr15:82392600-82393000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:82392600-82393600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:82392600-82393600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr15:82392600-82393600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:82392600-82393800	Enhancers	H9 Cell Line	embryonic stem cell
45	chr15:82392800-82393000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr15:82392800-82393200	Enhancers	Psoas Muscle	Psoas
47	chr15:82392800-82393600	Enhancers	HSMMtube	muscle
48	chr15:82393000-82393600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:82393000-82393600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:82393000-82397800	Weak transcription	Osteobl	bone

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