Variant report

Variant	nsv1482
Chromosome Location	chr15:33083166-33113644
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	chr15:33089336..33091102-chr15:33094097..33095709,2	K562	blood:
3	chr15:33111785..33114105-chr15:33134762..33137156,2	K562	blood:

Extended variants
information (count: 1425 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1425 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572176429	chr15:33083167-33083168	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545657262	chr15:33083176-33083177	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564340549	chr15:33083209-33083210	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561295252	chr15:33083221-33083222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191484656	chr15:33083261-33083262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562013336	chr15:33083280-33083281	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529312625	chr15:33083283-33083284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543646273	chr15:33083326-33083327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547879055	chr15:33083341-33083342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56252644	chr15:33083362-33083363	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34636398	chr15:33083457-33083458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56202158	chr15:33083472-33083473	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200635446	chr15:33083473-33083474	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73384980	chr15:33083517-33083518	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs567357143	chr15:33083519-33083520	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34331378	chr15:33083569-33083570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75017946	chr15:33083578-33083579	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398099704	chr15:33083580-33083581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369455267	chr15:33083582-33083583	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184015097	chr15:33083588-33083589	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537346009	chr15:33083607-33083608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186523771	chr15:33083630-33083631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12916120	chr15:33083643-33083644	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs59331673	chr15:33083645-33083646	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs367925950	chr15:33083670-33083671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192764314	chr15:33083704-33083705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77655034	chr15:33083711-33083712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36062994	chr15:33083733-33083734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35476551	chr15:33083756-33083757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150345997	chr15:33083765-33083766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138056106	chr15:33083784-33083785	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576305087	chr15:33083805-33083806	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12915737	chr15:33083841-33083842	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs34889944	chr15:33083843-33083844	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566304717	chr15:33083845-33083846	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561976383	chr15:33083861-33083862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527285908	chr15:33083898-33083899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574056954	chr15:33083928-33083929	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548996450	chr15:33083975-33083976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142446766	chr15:33083977-33083978	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145956996	chr15:33083983-33083984	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74011979	chr15:33083985-33083986	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184475448	chr15:33084009-33084010	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537589578	chr15:33084057-33084058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139866547	chr15:33084058-33084059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16958882	chr15:33084065-33084066	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531020822	chr15:33084066-33084067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549232426	chr15:33084101-33084102	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567596763	chr15:33084154-33084155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535018012	chr15:33084226-33084227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33060600-33097600	Weak transcription	Thymus	Thymus
2	chr15:33061200-33141000	Weak transcription	Placenta	Placenta
3	chr15:33062600-33111200	Weak transcription	Gastric	stomach
4	chr15:33063800-33094400	Weak transcription	Fetal Stomach	stomach
5	chr15:33065800-33098600	Weak transcription	Colonic Mucosa	Colon
6	chr15:33067200-33089000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:33072600-33090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:33072800-33087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:33074800-33084200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr15:33075000-33096400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:33079800-33094200	Weak transcription	HSMM	muscle
12	chr15:33080000-33090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:33080800-33094800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:33081600-33083400	Enhancers	NHLF	lung
15	chr15:33081800-33083200	Enhancers	Osteobl	bone
16	chr15:33081800-33090400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr15:33082000-33083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr15:33082000-33083600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:33082000-33085200	Enhancers	NHDF-Ad	bronchial
20	chr15:33082200-33083200	Enhancers	Liver	Liver
21	chr15:33082200-33083200	Enhancers	Hela-S3	cervix
22	chr15:33082200-33083200	Enhancers	NH-A	brain
23	chr15:33082200-33083400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:33082600-33083400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr15:33082600-33086600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:33082600-33096000	Weak transcription	Pancreas	Pancrea
27	chr15:33082800-33083200	Enhancers	A549	lung
28	chr15:33082800-33087000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:33082800-33094200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:33083000-33084000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:33083000-33084800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:33083000-33086800	Weak transcription	HepG2	liver
33	chr15:33083000-33091400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:33083000-33094200	Weak transcription	HSMMtube	muscle
35	chr15:33083200-33087000	Weak transcription	Hela-S3	cervix
36	chr15:33083200-33087600	Weak transcription	A549	lung
37	chr15:33083200-33089000	Weak transcription	NH-A	brain
38	chr15:33083200-33093200	Weak transcription	Osteobl	bone
39	chr15:33083400-33084800	Weak transcription	NHLF	lung
40	chr15:33083400-33086000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:33083400-33092400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:33083600-33084000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:33083600-33097400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:33083800-33084000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:33084000-33084200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr15:33084000-33084200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:33084000-33084600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:33084200-33084400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr15:33084200-33084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:33084600-33085600	Enhancers	HUVEC	blood vessel

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