Variant report

Variant	nsv568919
Chromosome Location	chr15:33638335-33736683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:33655798..33658171-chr15:33661026..33663355,2	K562	blood:
2	chr15:33688402..33689977-chr15:33693470..33695148,2	K562	blood:
3	chr15:33705823..33709150-chr15:33710958..33713846,3	K562	blood:
4	chr15:33688402..33689977-chr15:33693470..33695148,2	K562	blood:
5	chr15:33655798..33658171-chr15:33661026..33663355,2	K562	blood:
6	chr15:33705823..33709150-chr15:33710958..33713846,3	K562	blood:

Extended variants
information (count: 3813 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:3813 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7176762	chr15:33638335-33638336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116764408	chr15:33638347-33638348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376847678	chr15:33638406-33638407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79072718	chr15:33638472-33638473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150958935	chr15:33638489-33638490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140803009	chr15:33638494-33638495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190371287	chr15:33638531-33638532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs17817102	chr15:33638553-33638554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72725452	chr15:33638559-33638560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531088466	chr15:33638596-33638597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16969847	chr15:33638658-33638659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530862210	chr15:33638753-33638754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16969851	chr15:33638755-33638756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552903943	chr15:33638795-33638796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577578781	chr15:33638803-33638804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561267403	chr15:33638835-33638836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs8037480	chr15:33638896-33638897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs150112646	chr15:33638922-33638923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530760526	chr15:33638950-33638951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182496142	chr15:33638958-33638959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138396801	chr15:33638966-33638967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74368065	chr15:33638975-33638976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546802164	chr15:33638993-33638994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571584025	chr15:33639016-33639017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111482626	chr15:33639055-33639056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141498963	chr15:33639061-33639062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565765961	chr15:33639101-33639102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551210998	chr15:33639107-33639108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569571283	chr15:33639149-33639150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544332021	chr15:33639150-33639151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555177333	chr15:33639218-33639219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145902922	chr15:33639250-33639251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138456074	chr15:33639255-33639256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552800613	chr15:33639263-33639264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186684659	chr15:33639277-33639278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544674217	chr15:33639323-33639324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556579124	chr15:33639330-33639331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142958201	chr15:33639543-33639544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542541133	chr15:33639547-33639548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191688710	chr15:33639580-33639581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374594928	chr15:33639594-33639595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181602494	chr15:33639613-33639614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146136999	chr15:33639671-33639672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185271774	chr15:33639675-33639676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565239262	chr15:33639687-33639688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554591862	chr15:33639690-33639691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532688252	chr15:33639733-33639734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550988569	chr15:33639786-33639787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562906566	chr15:33639793-33639794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530387704	chr15:33639796-33639797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33630800-33649200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:33644400-33645600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:33644600-33644800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:33644600-33701600	Weak transcription	Aorta	Aorta
5	chr15:33644800-33646400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:33645800-33647200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:33646200-33646600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr15:33646400-33646800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:33646400-33647000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:33646800-33650000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:33647000-33649800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:33647200-33650000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:33648000-33648200	Enhancers	Brain Anterior Caudate	brain
14	chr15:33649200-33649400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:33649200-33650600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:33649200-33651200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:33649400-33649800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:33649400-33650000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:33649600-33651600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr15:33649800-33650800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:33649800-33651200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:33650000-33650200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:33650000-33650200	Enhancers	HSMMtube	muscle
24	chr15:33650000-33650600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:33650000-33650600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:33650000-33650800	Enhancers	NHEK	skin
27	chr15:33650000-33651200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:33650000-33651200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:33650000-33651200	Enhancers	Brain Germinal Matrix	brain
30	chr15:33650000-33651200	Enhancers	Fetal Muscle Leg	muscle
31	chr15:33650000-33651400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:33650000-33651400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:33650000-33651400	Enhancers	HMEC	breast
34	chr15:33650000-33651400	Enhancers	HSMM	muscle
35	chr15:33650200-33650400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr15:33650200-33650400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:33650200-33650400	Enhancers	NH-A	brain
38	chr15:33650200-33650600	Enhancers	Brain Anterior Caudate	brain
39	chr15:33650200-33650600	Flanking Active TSS	HSMMtube	muscle
40	chr15:33650200-33650800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:33650200-33650800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:33650200-33650800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:33650200-33650800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:33650200-33651400	Enhancers	Brain Substantia Nigra	brain
45	chr15:33650400-33650600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:33650400-33651200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr15:33650600-33651400	Enhancers	HSMMtube	muscle
48	chr15:33650600-33651600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:33650600-33652400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr15:33650600-33666800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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