Variant report

Variant	nsv903977
Chromosome Location	chr15:33040782-33117302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33089336..33091102-chr15:33094097..33095709,2	K562	blood:
2	chr15:33111785..33114105-chr15:33134762..33137156,2	K562	blood:
3	chr15:33032179..33034981-chr15:33038719..33041512,2	MCF-7	breast:
4	chr15:33089336..33091102-chr15:33094097..33095709,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FMN1-6	chr15:33057747-33059570	NONHSAT041529

Extended variants
information (count: 3590 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3590 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519740	chr15:33040782-33040783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113388093	chr15:33040848-33040849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148462663	chr15:33040946-33040947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12439770	chr15:33040994-33040995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142561445	chr15:33041004-33041005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117213046	chr15:33041026-33041027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538492885	chr15:33041071-33041072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117558581	chr15:33041097-33041098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186341290	chr15:33041106-33041107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543035365	chr15:33041119-33041120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555013668	chr15:33041120-33041121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs8031380	chr15:33041130-33041131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150946987	chr15:33041205-33041206	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139867564	chr15:33041209-33041210	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4779587	chr15:33041254-33041255	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs544525322	chr15:33041261-33041262	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200652304	chr15:33041265-33041266	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530334974	chr15:33041298-33041299	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548521920	chr15:33041318-33041319	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146670803	chr15:33041323-33041324	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190397391	chr15:33041381-33041382	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528143264	chr15:33041383-33041384	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546661700	chr15:33041385-33041386	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571285632	chr15:33041412-33041413	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538826973	chr15:33041442-33041443	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78996905	chr15:33041452-33041453	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573526515	chr15:33041473-33041474	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35606045	chr15:33041502-33041503	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569133360	chr15:33041505-33041506	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77953678	chr15:33041507-33041508	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4779588	chr15:33041523-33041524	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183328043	chr15:33041577-33041578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8040400	chr15:33041585-33041586	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs75357616	chr15:33041625-33041626	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577306934	chr15:33041626-33041627	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544748434	chr15:33041627-33041628	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574307088	chr15:33041640-33041641	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112281709	chr15:33041644-33041645	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562743746	chr15:33041648-33041649	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140709621	chr15:33041668-33041669	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542131208	chr15:33041729-33041730	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199730064	chr15:33041731-33041732	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528069394	chr15:33041739-33041740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546327953	chr15:33041749-33041750	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569474322	chr15:33041816-33041817	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377051088	chr15:33041820-33041821	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532117149	chr15:33041833-33041834	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75377846	chr15:33041836-33041837	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57911783	chr15:33041837-33041838	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575086188	chr15:33041838-33041839	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Gastrointestinal stromal cancer	20818650	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33033200-33041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:33036600-33041200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:33039200-33041000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:33039800-33041000	Enhancers	NHDF-Ad	bronchial
5	chr15:33040400-33040800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr15:33040400-33041200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:33040600-33045600	Weak transcription	Osteobl	bone
8	chr15:33040600-33053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:33041200-33042000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:33041200-33042200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:33042200-33048400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:33043400-33043800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:33045600-33046200	Strong transcription	Osteobl	bone
14	chr15:33046200-33054000	Weak transcription	Osteobl	bone
15	chr15:33047600-33049400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:33048400-33048800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:33048400-33048800	Active TSS	Brain Anterior Caudate	brain
18	chr15:33048800-33049200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:33049200-33049600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:33049400-33051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:33049600-33058800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:33051600-33052000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:33052000-33053800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:33053000-33053600	Enhancers	NHDF-Ad	bronchial
25	chr15:33053000-33059200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:33053400-33053800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:33053600-33058200	Weak transcription	NHDF-Ad	bronchial
28	chr15:33053800-33055000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:33053800-33058800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:33054000-33054400	Enhancers	GM12878-XiMat	blood
31	chr15:33054000-33054600	Strong transcription	Osteobl	bone
32	chr15:33054400-33055400	Weak transcription	GM12878-XiMat	blood
33	chr15:33054600-33057400	Weak transcription	Osteobl	bone
34	chr15:33054800-33063800	Weak transcription	NHLF	lung
35	chr15:33055000-33058200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:33055400-33055800	Enhancers	GM12878-XiMat	blood
37	chr15:33055600-33055800	Enhancers	HSMMtube	muscle
38	chr15:33055800-33057400	Weak transcription	GM12878-XiMat	blood
39	chr15:33055800-33065200	Weak transcription	HSMMtube	muscle
40	chr15:33057400-33057600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr15:33057400-33057600	Enhancers	GM12878-XiMat	blood
42	chr15:33057400-33057600	Enhancers	Osteobl	bone
43	chr15:33057600-33057800	Genic enhancers	Osteobl	bone
44	chr15:33057600-33062400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:33057800-33058800	Enhancers	Osteobl	bone
46	chr15:33058000-33063000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr15:33058200-33059200	Enhancers	NHDF-Ad	bronchial
48	chr15:33058200-33069800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr15:33058400-33059800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:33058800-33059000	Enhancers	HSMM	muscle

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