Variant report

Variant	nsv819003
Chromosome Location	chr15:30064372-30065843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:30056869..30058668-chr15:30062635..30065302,2	MCF-7	breast:
2	chr15:30063787..30066295-chr15:30068795..30070825,2	MCF-7	breast:
3	chr15:30055188..30057254-chr15:30065411..30067206,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192422672	chr15:30064374-30064375	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201068358	chr15:30064379-30064380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182043853	chr15:30064380-30064381	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554927830	chr15:30064381-30064382	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147349836	chr15:30064394-30064395	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574921317	chr15:30064398-30064399	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544096071	chr15:30064410-30064411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561769631	chr15:30064474-30064475	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1383315	chr15:30064495-30064496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141872997	chr15:30064514-30064515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369284927	chr15:30064570-30064571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533260230	chr15:30064629-30064630	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550805970	chr15:30064639-30064640	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376732572	chr15:30064691-30064692	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs45562140	chr15:30064745-30064746	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560310646	chr15:30064756-30064757	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373448727	chr15:30064858-30064859	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369926013	chr15:30064868-30064869	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs45520636	chr15:30064906-30064907	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533265742	chr15:30064924-30064925	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551981514	chr15:30064956-30064957	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373376341	chr15:30064957-30064958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs45460699	chr15:30064994-30064995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568464288	chr15:30065036-30065037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567665829	chr15:30065106-30065107	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76416218	chr15:30065159-30065160	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571007321	chr15:30065162-30065163	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540144838	chr15:30065165-30065166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546843267	chr15:30065212-30065213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538313778	chr15:30065239-30065240	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567088155	chr15:30065340-30065341	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143055473	chr15:30065355-30065356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs16955763	chr15:30065372-30065373	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs17571101	chr15:30065373-30065374	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187247258	chr15:30065380-30065381	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577825704	chr15:30065399-30065400	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576359166	chr15:30065406-30065407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372265939	chr15:30065438-30065439	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190872821	chr15:30065480-30065481	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377093192	chr15:30065490-30065491	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560071046	chr15:30065621-30065622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374702876	chr15:30065634-30065635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182054291	chr15:30065702-30065703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562121921	chr15:30065720-30065721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148353663	chr15:30065778-30065779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550964098	chr15:30065800-30065801	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
idiopathic generalized epilepsy	19843651	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prader-willi syndrome	21504564	CNVD
The inv dup or idic syndrome	19019226	CNVD
Prader-willi syndrome	21233802	CNVD
Angelman syndrome	16617304	CNVD
Angelman syndrome	20970697	CNVD
Autism	22958593	CNVD
Prader-willi syndrome	16617304	CNVD
Prader-willi syndrome	18923514	CNVD
Prader-willi syndrome	20970697	CNVD
Angelman syndrome	16183798	CNVD
Angelman syndrome	18923514	CNVD
Prader-willi syndrome	22241247	CNVD
Epilepsy	20970697	CNVD
Autism	20970697	CNVD
Autism	19935738	CNVD
Autism	22930557	CNVD
Autism	19966786	CNVD
Autism	18923514	CNVD
Autism	18925931	CNVD
Autism	18835857	CNVD
Prader-willi syndrome	18835857	CNVD
Prader-willi syndrome	22152151	CNVD
Autism	22241247	CNVD
15q-syndrome	21725066	CNVD
Prader-willi syndrome	21503198	CNVD
Autism	21956041	CNVD
Prader-willi syndrome	16760730	CNVD
Prader-willi syndrome	22470819	CNVD
prenatal diagnosis	20453657	CNVD
Prader-willi syndrome	17867985	CNVD
Angelman syndrome	21072004	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
Prader-willi syndrome	18781185	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
Schizophrenia	19197363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Angelman syndrome	18787571	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Abnormal corpus callosum	21572526	CNVD
Autism	20531469	CNVD
Neuropsychiatric disorder	20506139	CNVD
Austim spectrum disorder	21302340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Mental retardation	17124404	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	19843651	CNVD
Schizophrenia	19843651	CNVD
Schizophrenia	23813976	CNVD
Cognitive impairment	21505072	CNVD
Epilepsy	20502679	CNVD
Autism	22543975	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495309	CNVD
Schizophrenia	20388499	CNVD
Autism	20841430	CNVD
Epilepsy	22499536	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21956041	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Autism	21269290	CNVD
Intellectual disability	21269290	CNVD
Schizophrenia	21269290	CNVD
Colorectal cancer	21128281	CNVD
Epilepsy	19289393	CNVD
Epilepsy	20643615	CNVD
Mental retardation	19289393	CNVD
Mental retardation	20152051	CNVD
Schizophrenia	19289393	CNVD
dysmorphic features	19289393	CNVD
idiopathic epilepsies	19341504	CNVD
idiopathic generalized epilepsy	19592580	CNVD
idiopathic generalized epilepsy	19136953	CNVD
Autism	22094647	CNVD
Developmental delay	19898479	CNVD
Mental retardation	18278044	CNVD
Mental retardation	19898479	CNVD
Prader-willi syndrome	18854863	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30016600-30068200	Weak transcription	Brain Germinal Matrix	brain
2	chr15:30021400-30097200	Weak transcription	Aorta	Aorta
3	chr15:30025200-30065000	Weak transcription	Fetal Brain Female	brain
4	chr15:30030400-30067000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:30046400-30064400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:30047000-30065000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:30047000-30066000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:30049400-30066400	Weak transcription	Small Intestine	intestine
9	chr15:30050200-30070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:30050400-30064400	Strong transcription	HSMM	muscle
11	chr15:30051600-30065600	Strong transcription	NHEK	skin
12	chr15:30052000-30065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:30052000-30070600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:30052400-30064400	Strong transcription	HUVEC	blood vessel
15	chr15:30052600-30067600	Weak transcription	Stomach Mucosa	stomach
16	chr15:30052600-30089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:30053000-30064600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:30053000-30072600	Weak transcription	Spleen	Spleen
19	chr15:30057400-30067200	Weak transcription	K562	blood
20	chr15:30057600-30068600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:30058000-30067200	Weak transcription	Psoas Muscle	Psoas
22	chr15:30058200-30065600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:30058200-30067200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr15:30058400-30064400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:30058600-30064400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:30058600-30065600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:30058600-30067200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:30058600-30067200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:30058600-30092200	Weak transcription	Esophagus	oesophagus
30	chr15:30058600-30106000	Weak transcription	Gastric	stomach
31	chr15:30059000-30064400	Strong transcription	Osteobl	bone
32	chr15:30059400-30065600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:30059800-30086200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:30060600-30064400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:30060600-30064400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:30060600-30071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:30060800-30064400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:30060800-30065200	Weak transcription	Right Ventricle	heart
39	chr15:30060800-30069200	Weak transcription	Right Atrium	heart
40	chr15:30060800-30076800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:30061000-30067200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:30061200-30066600	Weak transcription	Hela-S3	cervix
43	chr15:30061400-30065600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:30061400-30065800	Weak transcription	Fetal Heart	heart
45	chr15:30061400-30066000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:30062200-30065600	Strong transcription	Fetal Intestine Small	intestine
47	chr15:30062200-30065800	Weak transcription	HMEC	breast
48	chr15:30062200-30066400	Weak transcription	NHLF	lung
49	chr15:30062200-30067200	Weak transcription	NHDF-Ad	bronchial
50	chr15:30062400-30065600	Weak transcription	Fetal Brain Male	brain

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