Variant report

Variant	esv3312204
Chromosome Location	chr15:76882597-76888295
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	chr15:76877558..76879609-chr15:76881319..76882907,2	K562	blood:

Variant related genes	Relation type
ENSG00000266449	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55756986	chr15:76882605-76882606	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535010348	chr15:76882683-76882684	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546921112	chr15:76882700-76882701	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141476506	chr15:76882718-76882719	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112265848	chr15:76882742-76882743	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536091117	chr15:76882774-76882775	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534357422	chr15:76882796-76882797	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536501784	chr15:76882798-76882799	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188699509	chr15:76882800-76882801	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539426692	chr15:76882802-76882803	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557816022	chr15:76882883-76882884	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572897545	chr15:76882921-76882922	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540498869	chr15:76882924-76882925	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561972040	chr15:76883008-76883009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573706005	chr15:76883169-76883170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544439940	chr15:76883183-76883184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191082639	chr15:76883191-76883192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201002794	chr15:76883217-76883218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531066375	chr15:76883243-76883244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138028117	chr15:76883294-76883295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564108686	chr15:76883307-76883308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2404735	chr15:76883346-76883347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs117281528	chr15:76883347-76883348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557788786	chr15:76883447-76883448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2047504	chr15:76883516-76883517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs535663531	chr15:76883521-76883522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547102426	chr15:76883528-76883529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551190758	chr15:76883598-76883599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77475362	chr15:76883624-76883625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539512727	chr15:76883629-76883630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534411806	chr15:76883639-76883640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182863412	chr15:76883671-76883672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187241823	chr15:76883775-76883776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62030415	chr15:76883797-76883798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117006699	chr15:76883837-76883838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574430383	chr15:76883854-76883855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2439989	chr15:76883862-76883863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs548344293	chr15:76883912-76883913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544059044	chr15:76883914-76883915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562728893	chr15:76883932-76883933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142625227	chr15:76883938-76883939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545854837	chr15:76883978-76883979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368061923	chr15:76884010-76884011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370798953	chr15:76884013-76884014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71405218	chr15:76884051-76884052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528466029	chr15:76884074-76884075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540272292	chr15:76884079-76884080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576363385	chr15:76884086-76884087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35994108	chr15:76884126-76884127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2469244	chr15:76884127-76884128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:52)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76871000-76883600	Weak transcription	Ovary	ovary
2	chr15:76876000-76883600	Weak transcription	Aorta	Aorta
3	chr15:76877400-76883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
5	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
6	chr15:76879400-76883400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:76879600-76883400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
9	chr15:76880200-76883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:76880400-76883200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:76880400-76883200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr15:76880400-76883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:76880600-76883200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:76880600-76883400	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:76881200-76882600	Strong transcription	Thymus	Thymus
16	chr15:76881600-76882600	ZNF genes & repeats	Esophagus	oesophagus
17	chr15:76881600-76883000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:76881800-76882600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:76881800-76882800	Strong transcription	Liver	Liver
20	chr15:76882000-76883000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr15:76882000-76885200	Weak transcription	Left Ventricle	heart
22	chr15:76882000-76887800	Weak transcription	Lung	lung
23	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:76882400-76882600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr15:76882400-76883400	Weak transcription	Brain Germinal Matrix	brain
26	chr15:76882400-76884000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr15:76882400-76884800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:76882400-76884800	Weak transcription	Fetal Stomach	stomach
29	chr15:76882400-76885800	Weak transcription	Fetal Intestine Small	intestine
30	chr15:76882400-76887800	Weak transcription	Primary B cells from cord blood	blood
31	chr15:76882400-76887800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:76882600-76884200	Weak transcription	Thymus	Thymus
33	chr15:76882600-76884600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:76882600-76886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:76882800-76884600	Weak transcription	Liver	Liver
36	chr15:76883000-76884600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:76883600-76883800	Enhancers	Brain Germinal Matrix	brain
38	chr15:76884200-76884400	Enhancers	Right Ventricle	heart
39	chr15:76885800-76886000	ZNF genes & repeats	Fetal Intestine Small	intestine

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