Variant report

Variant	esv1798284
Chromosome Location	chr15:31772875-31776503
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	chr15:31775112..31777688-chr15:31780214..31782887,2	K562	blood:
2	chr15:31768996..31771688-chr15:31773371..31775681,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6493688	chr15:31772875-31772876	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6493689	chr15:31772912-31772913	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs182984839	chr15:31773002-31773003	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs575570357	chr15:31773017-31773018	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs559009259	chr15:31773018-31773019	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs572491021	chr15:31773106-31773107	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs149010663	chr15:31773126-31773127	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs560976028	chr15:31773147-31773148	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs574363823	chr15:31773170-31773171	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs187811934	chr15:31773269-31773270	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs192586512	chr15:31773287-31773288	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs76797945	chr15:31773306-31773307	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs367981543	chr15:31773326-31773327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs376196943	chr15:31773335-31773336	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs538370062	chr15:31773352-31773353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184406625	chr15:31773362-31773363	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs548335721	chr15:31773381-31773382	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs67371074	chr15:31773387-31773388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs371153749	chr15:31773409-31773410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs187546767	chr15:31773442-31773443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs192825446	chr15:31773455-31773456	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs184756344	chr15:31773574-31773575	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs144547059	chr15:31773583-31773584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs550500570	chr15:31773609-31773610	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs570410307	chr15:31773629-31773630	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs539214636	chr15:31773639-31773640	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558919683	chr15:31773653-31773654	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs376394823	chr15:31773674-31773675	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs146600698	chr15:31773701-31773702	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs554511012	chr15:31773723-31773724	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201651842	chr15:31773750-31773751	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574503083	chr15:31773798-31773799	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs571142844	chr15:31773858-31773859	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs11633777	chr15:31773865-31773866	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs553586310	chr15:31773877-31773878	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs567552660	chr15:31773945-31773946	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs544807638	chr15:31773950-31773951	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs71422893	chr15:31773951-31773952	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs11395303	chr15:31773954-31773955	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs577094276	chr15:31774060-31774061	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs145051428	chr15:31774079-31774080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs201100538	chr15:31774097-31774098	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs148327435	chr15:31774134-31774135	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs62004064	chr15:31774171-31774172	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs541568857	chr15:31774230-31774231	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561622259	chr15:31774233-31774234	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530517998	chr15:31774242-31774243	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554774394	chr15:31774272-31774273	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570348132	chr15:31774292-31774293	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150408741	chr15:31774303-31774304	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription	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:321 , 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	chr15:31765400-31773000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:31765400-31773000	Weak transcription	Fetal Heart	heart
5	chr15:31765600-31775200	Weak transcription	Brain Anterior Caudate	brain
6	chr15:31765600-31779200	Weak transcription	Brain Angular Gyrus	brain
7	chr15:31765800-31775400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:31766000-31776400	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:31766200-31773600	Weak transcription	Small Intestine	intestine
10	chr15:31766200-31775000	Weak transcription	Left Ventricle	heart
11	chr15:31766800-31774200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr15:31767200-31774200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:31768000-31773400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr15:31768400-31774800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:31769000-31775200	Weak transcription	Right Atrium	heart
16	chr15:31769000-31776400	Weak transcription	Brain Substantia Nigra	brain
17	chr15:31770800-31773200	Enhancers	Fetal Brain Male	brain
18	chr15:31772000-31773000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:31772200-31775000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:31772200-31775200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:31772400-31773000	Enhancers	Fetal Brain Female	brain
22	chr15:31772400-31774400	Bivalent Enhancer	Thymus	Thymus
23	chr15:31772600-31773000	Enhancers	Right Ventricle	heart
24	chr15:31772600-31773200	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:31772600-31773200	Bivalent Enhancer	Fetal Lung	lung
26	chr15:31772600-31773200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr15:31772600-31773200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr15:31772600-31773200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr15:31772600-31773800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr15:31772600-31774000	Enhancers	Fetal Thymus	thymus
31	chr15:31772600-31774200	Enhancers	Primary T cells from cord blood	blood
32	chr15:31772600-31774200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:31772600-31774600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr15:31772600-31774800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:31772600-31774800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr15:31772800-31773000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:31772800-31773000	Genic enhancers	Spleen	Spleen
38	chr15:31772800-31773200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr15:31772800-31774400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:31773000-31773200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr15:31773000-31773200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:31773000-31773200	Weak transcription	Spleen	Spleen
43	chr15:31773000-31774000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:31773000-31774400	Weak transcription	Fetal Brain Female	brain
45	chr15:31773000-31774800	Weak transcription	Right Ventricle	heart
46	chr15:31773200-31774200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr15:31773200-31775000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:31773400-31773600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:31773400-31774800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:31773800-31774200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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