Variant report

Variant	nsv568811
Chromosome Location	chr15:31775500-31776450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31768996..31771688-chr15:31773371..31775681,2	MCF-7	breast:
2	chr15:31775112..31777688-chr15:31780214..31782887,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12903732	chr15:31775500-31775501	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552990778	chr15:31775545-31775546	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573133773	chr15:31775623-31775624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs112313602	chr15:31775664-31775665	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs535629817	chr15:31775707-31775708	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs534528969	chr15:31775752-31775753	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs78774681	chr15:31775803-31775804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112910059	chr15:31775900-31775901	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575385845	chr15:31775979-31775980	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544341832	chr15:31775982-31775983	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564071366	chr15:31775991-31775992	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2338682	chr15:31776004-31776005	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2338681	chr15:31776021-31776022	Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199744400	chr15:31776211-31776212	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs113104746	chr15:31776229-31776230	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs547921335	chr15:31776237-31776238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs559778029	chr15:31776277-31776278	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs367601135	chr15:31776298-31776299	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs371398471	chr15:31776315-31776316	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs528784908	chr15:31776326-31776327	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs375289192	chr15:31776364-31776365	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs80021613	chr15:31776370-31776371	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs368655642	chr15:31776376-31776377	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs546365883	chr15:31776396-31776397	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs371889770	chr15:31776418-31776419	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375688748	chr15:31776434-31776435	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Prostate cancer	18632612	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Epilepsy	20502679	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
Pancreatic cancer	17952125	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31765600-31779200	Weak transcription	Brain Angular Gyrus	brain
2	chr15:31766000-31776400	Weak transcription	Brain Hippocampus Middle	brain
3	chr15:31769000-31776400	Weak transcription	Brain Substantia Nigra	brain
4	chr15:31774600-31775800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr15:31774600-31776600	Bivalent/Poised TSS	Thymus	Thymus
6	chr15:31774800-31775600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:31774800-31775600	Bivalent Enhancer	Spleen	Spleen
8	chr15:31774800-31775800	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr15:31775000-31775600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:31775000-31775600	Bivalent/Poised TSS	Small Intestine	intestine
11	chr15:31775000-31777200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr15:31775200-31775600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:31775200-31775600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:31775200-31775600	Active TSS	Right Atrium	heart
15	chr15:31775200-31775800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:31775200-31775800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:31775200-31775800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr15:31775200-31775800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:31775200-31775800	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr15:31775200-31775800	Active TSS	Brain Anterior Caudate	brain
21	chr15:31775200-31775800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr15:31775200-31776000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:31775200-31776000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:31775200-31776000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:31775200-31776000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:31775200-31776000	Active TSS	Esophagus	oesophagus
27	chr15:31775200-31776000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr15:31775200-31776000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr15:31775200-31776400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr15:31775200-31776400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:31775200-31776400	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr15:31775200-31776400	Flanking Active TSS	Right Ventricle	heart
33	chr15:31775200-31776600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr15:31775200-31776600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:31775200-31776600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:31775400-31775600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr15:31775400-31775600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:31775400-31775600	Active TSS	Primary T cells fromperipheralblood	blood
39	chr15:31775400-31775600	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
40	chr15:31775400-31775600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:31775400-31775600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:31775400-31775600	Enhancers	Gastric	stomach
43	chr15:31775400-31775600	Enhancers	Pancreas	Pancrea
44	chr15:31775400-31775800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr15:31775400-31775800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
46	chr15:31775400-31775800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr15:31775400-31775800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:31775400-31775800	Active TSS	Adipose Nuclei	Adipose
49	chr15:31775400-31775800	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr15:31775400-31775800	Flanking Active TSS	Left Ventricle	heart

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