Variant report

Variant	esv3388036
Chromosome Location	chr15:31774660-31777358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:31728928..31731704-chr15:31776995..31778781,2	MCF-7	breast:
2	chr15:31768996..31771688-chr15:31773371..31775681,2	MCF-7	breast:
3	chr15:31775112..31777688-chr15:31780214..31782887,2	K562	blood:
4	chr15:31748477..31753108-chr15:31776889..31783172,7	MCF-7	breast:

Extended variants
information (count: 99 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114219089	chr15:31774738-31774739	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs72724983	chr15:31774810-31774811	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs180813532	chr15:31774898-31774899	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368764983	chr15:31774912-31774913	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542093438	chr15:31774915-31774916	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs202029014	chr15:31774964-31774965	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577166053	chr15:31775001-31775002	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544206080	chr15:31775033-31775034	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563950353	chr15:31775042-31775043	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184551804	chr15:31775064-31775065	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11462365	chr15:31775126-31775127	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs5811646	chr15:31775127-31775128	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs63207360	chr15:31775137-31775138	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138627319	chr15:31775174-31775175	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142867676	chr15:31775183-31775184	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559272527	chr15:31775188-31775189	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs566219630	chr15:31775200-31775201	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113723796	chr15:31775209-31775210	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61514382	chr15:31775225-31775226	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147443201	chr15:31775226-31775227	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74344721	chr15:31775292-31775293	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537169837	chr15:31775381-31775382	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12899883	chr15:31775390-31775391	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559601811	chr15:31775400-31775401	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570765905	chr15:31775440-31775441	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
26	rs532935489	chr15:31775477-31775478	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
27	rs111366122	chr15:31775478-31775479	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31758200-31774800	Weak transcription	Gastric	stomach
2	chr15:31758200-31775400	Weak transcription	Pancreas	Pancrea
3	chr15:31765600-31775200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:31765600-31779200	Weak transcription	Brain Angular Gyrus	brain
5	chr15:31765800-31775400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:31766000-31776400	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:31766200-31775000	Weak transcription	Left Ventricle	heart
8	chr15:31768400-31774800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:31769000-31775200	Weak transcription	Right Atrium	heart
10	chr15:31769000-31776400	Weak transcription	Brain Substantia Nigra	brain
11	chr15:31772200-31775000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:31772200-31775200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:31772600-31774800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr15:31772600-31774800	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr15:31773000-31774800	Weak transcription	Right Ventricle	heart
16	chr15:31773200-31775000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:31773400-31774800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr15:31773800-31775200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr15:31774000-31775000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr15:31774200-31774800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:31774200-31775200	Bivalent Enhancer	Fetal Brain Male	brain
22	chr15:31774200-31775400	Strong transcription	Brain Cingulate Gyrus	brain
23	chr15:31774400-31774800	Enhancers	Primary T cells from cord blood	blood
24	chr15:31774400-31774800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
25	chr15:31774400-31774800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
26	chr15:31774400-31775000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr15:31774400-31775000	Flanking Active TSS	Fetal Brain Female	brain
28	chr15:31774400-31775000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr15:31774400-31775200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:31774400-31775200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:31774400-31775200	Enhancers	Esophagus	oesophagus
32	chr15:31774400-31775400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr15:31774600-31775000	Bivalent Enhancer	Primary B cells from cord blood	blood
34	chr15:31774600-31775000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
35	chr15:31774600-31775200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr15:31774600-31775400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr15:31774600-31775400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr15:31774600-31775400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:31774600-31775400	Bivalent Enhancer	Colonic Mucosa	Colon
40	chr15:31774600-31775800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr15:31774600-31776600	Bivalent/Poised TSS	Thymus	Thymus
42	chr15:31774800-31775000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:31774800-31775000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:31774800-31775000	Enhancers	Gastric	stomach
45	chr15:31774800-31775200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
46	chr15:31774800-31775200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr15:31774800-31775200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:31774800-31775200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr15:31774800-31775200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr15:31774800-31775200	Enhancers	Right Ventricle	heart

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