Variant report

Variant	esv12125
Chromosome Location	chr15:56851808-56868691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 540 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183646972	chr15:56851843-56851844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541385097	chr15:56851865-56851866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188745962	chr15:56851877-56851878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80022824	chr15:56851929-56851930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543385951	chr15:56851968-56851969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192828973	chr15:56851988-56851989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532236074	chr15:56852024-56852025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185211237	chr15:56852051-56852052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11637714	chr15:56852069-56852070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs555029525	chr15:56852113-56852114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528261324	chr15:56852124-56852125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548201846	chr15:56852145-56852146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575442664	chr15:56852160-56852161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568327477	chr15:56852165-56852166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148035371	chr15:56852226-56852227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75136410	chr15:56852284-56852285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150177845	chr15:56852286-56852287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538754280	chr15:56852296-56852297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560975262	chr15:56852298-56852299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200945420	chr15:56852323-56852324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187103488	chr15:56852358-56852359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191658928	chr15:56852385-56852386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554993757	chr15:56852393-56852394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2624008	chr15:56852398-56852399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543092196	chr15:56852478-56852479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183770373	chr15:56852497-56852498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576860812	chr15:56852499-56852500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138811352	chr15:56852527-56852528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559456305	chr15:56852531-56852532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371560031	chr15:56852537-56852538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577815260	chr15:56852547-56852548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371160465	chr15:56852551-56852552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528307693	chr15:56852553-56852554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541984419	chr15:56852653-56852654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77425257	chr15:56852664-56852665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530822508	chr15:56852682-56852683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550417506	chr15:56852711-56852712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs8039037	chr15:56852777-56852778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532341136	chr15:56852825-56852826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552290126	chr15:56852844-56852845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188000528	chr15:56852906-56852907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139587159	chr15:56852921-56852922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182419333	chr15:56852987-56852988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77652731	chr15:56852995-56852996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200420478	chr15:56853001-56853002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144316046	chr15:56853005-56853006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576928635	chr15:56853023-56853024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185445980	chr15:56853035-56853036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368966623	chr15:56853043-56853044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2624009	chr15:56853046-56853047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Melanoma	18172304	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
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Glioblastoma multiforme	21510904	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56850400-56853600	Weak transcription	Fetal Thymus	thymus
2	chr15:56853600-56854200	ZNF genes & repeats	Fetal Thymus	thymus
3	chr15:56854000-56854400	Enhancers	Dnd41	blood
4	chr15:56854200-56854800	Enhancers	Fetal Thymus	thymus
5	chr15:56854200-56854800	Enhancers	Thymus	Thymus
6	chr15:56854400-56856200	Weak transcription	Dnd41	blood
7	chr15:56854800-56860000	Weak transcription	Fetal Thymus	thymus
8	chr15:56854800-56860000	Weak transcription	Thymus	Thymus
9	chr15:56856200-56856400	Enhancers	Dnd41	blood
10	chr15:56860000-56861400	ZNF genes & repeats	Fetal Thymus	thymus
11	chr15:56860000-56861600	ZNF genes & repeats	Thymus	Thymus
12	chr15:56860200-56860400	Enhancers	Dnd41	blood
13	chr15:56860400-56860600	Flanking Active TSS	Dnd41	blood
14	chr15:56860400-56861600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:56860600-56861400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:56860600-56861600	Enhancers	HMEC	breast
17	chr15:56860600-56861800	Enhancers	Dnd41	blood
18	chr15:56860800-56861400	Enhancers	NHEK	skin
19	chr15:56861400-56861600	Enhancers	Fetal Thymus	thymus
20	chr15:56861600-56863200	Weak transcription	Thymus	Thymus
21	chr15:56861800-56862800	Weak transcription	Dnd41	blood
22	chr15:56862800-56863400	Enhancers	Dnd41	blood
23	chr15:56863200-56863400	Enhancers	Thymus	Thymus

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