Variant report

Variant	esv3439274
Chromosome Location	chr15:40666759-40668543
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:40621312..40623412-chr15:40667934..40669640,2	K562	blood:
2	chr15:40661338..40663976-chr15:40666314..40668702,2	MCF-7	breast:
3	chr15:40658920..40662804-chr15:40663316..40668232,4	MCF-7	breast:
4	chr15:40668163..40671782-chr15:40674051..40677338,4	K562	blood:
5	chr15:40667747..40671159-chr15:40675164..40677338,5	K562	blood:
6	chr15:40663732..40667062-chr15:40674726..40678158,3	MCF-7	breast:
7	chr15:40663302..40665766-chr15:40668302..40671610,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DISP2-2	chr15:40666599-40668192	ENSG00000261374.1
2	lnc-DISP2-2	chr15:40666242-40667975	NONHSAT041835

No data

Variant related genes	Relation type
ENSG00000259714	chromatin interactions
ENSG00000140323	chromatin interactions
ENSG00000259368	chromatin interactions
ENSG00000128944	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536983395	chr15:40666760-40666761	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs553600192	chr15:40666768-40666769	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs138090301	chr15:40666775-40666776	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs539243817	chr15:40666833-40666834	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs143651090	chr15:40666834-40666835	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs147474239	chr15:40666862-40666863	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs543384111	chr15:40666896-40666897	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs548679992	chr15:40666906-40666907	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs541727295	chr15:40666936-40666937	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs28584333	chr15:40666948-40666949	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs563171991	chr15:40667010-40667011	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs573872808	chr15:40667011-40667012	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs559767889	chr15:40667029-40667030	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs559226801	chr15:40667039-40667040	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs138401013	chr15:40667044-40667045	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs551181127	chr15:40667052-40667053	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs192219229	chr15:40667058-40667059	Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs367858512	chr15:40667086-40667087	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs141814476	chr15:40667089-40667090	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs542018239	chr15:40667099-40667100	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs563808766	chr15:40667100-40667101	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs530907598	chr15:40667102-40667103	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs150613647	chr15:40667106-40667107	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs76736292	chr15:40667126-40667127	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs536649819	chr15:40667129-40667130	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs371810436	chr15:40667169-40667170	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs149846376	chr15:40667183-40667184	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs55955961	chr15:40667211-40667212	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs183662855	chr15:40667232-40667233	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs567185972	chr15:40667249-40667250	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs188939231	chr15:40667255-40667256	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs144852796	chr15:40667269-40667270	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs577651773	chr15:40667272-40667273	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs536787926	chr15:40667277-40667278	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
35	rs28503580	chr15:40667285-40667286	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
36	rs556915906	chr15:40667319-40667320	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
37	rs575183495	chr15:40667344-40667345	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
38	rs573257605	chr15:40667393-40667394	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
39	rs542228062	chr15:40667401-40667402	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs552816208	chr15:40667489-40667490	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs572826499	chr15:40667496-40667497	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs17671194	chr15:40667539-40667540	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs570079101	chr15:40667560-40667561	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
44	rs531029457	chr15:40667582-40667583	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs544332763	chr15:40667586-40667587	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
46	rs117947536	chr15:40667602-40667603	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
47	rs139661975	chr15:40667607-40667608	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
48	rs547038492	chr15:40667643-40667644	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
49	rs77637388	chr15:40667664-40667665	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
50	rs532891428	chr15:40667684-40667685	Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
2	chr15:40661000-40669600	Weak transcription	HSMM	muscle
3	chr15:40661000-40671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
5	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
7	chr15:40663800-40674200	Weak transcription	Right Ventricle	heart
8	chr15:40665200-40671400	Weak transcription	Spleen	Spleen
9	chr15:40665200-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:40665200-40674800	Weak transcription	Fetal Brain Female	brain
11	chr15:40665400-40669600	Weak transcription	HSMMtube	muscle
12	chr15:40665400-40674800	Weak transcription	Fetal Lung	lung
13	chr15:40665600-40669600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:40665600-40669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr15:40665600-40671600	Weak transcription	Osteobl	bone
16	chr15:40665800-40669600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:40665800-40671400	Weak transcription	Placenta	Placenta
18	chr15:40665800-40671400	Weak transcription	NHDF-Ad	bronchial
19	chr15:40667800-40668000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr15:40668000-40674600	Weak transcription	Thymus	Thymus

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