Variant report

Variant	esv3311259
Chromosome Location	chr15:56789862-56801003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
2	chr15:56791160..56793250-chr15:56794933..56796796,2	K562	blood:
3	chr15:56787707..56790107-chr15:57597582..57600140,2	MCF-7	breast:

Extended variants
information (count: 370 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545013255	chr15:56789874-56789875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145127189	chr15:56789884-56789885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371677436	chr15:56789898-56789899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572151190	chr15:56789904-56789905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115156119	chr15:56789924-56789925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550112216	chr15:56789935-56789936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114090877	chr15:56789979-56789980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181256575	chr15:56790032-56790033	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529849673	chr15:56790039-56790040	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538753893	chr15:56790041-56790042	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563588094	chr15:56790062-56790063	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1631133	chr15:56790080-56790081	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186240126	chr15:56790146-56790147	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146852253	chr15:56790149-56790150	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534040900	chr15:56790177-56790178	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547827502	chr15:56790285-56790286	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544811655	chr15:56790292-56790293	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148999437	chr15:56790308-56790309	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536853453	chr15:56790344-56790345	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75425069	chr15:56790351-56790352	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534909177	chr15:56790373-56790374	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190617231	chr15:56790403-56790404	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554243803	chr15:56790493-56790494	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28395198	chr15:56790539-56790540	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114072653	chr15:56790563-56790564	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540778676	chr15:56790593-56790594	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367570530	chr15:56790608-56790609	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574586261	chr15:56790634-56790635	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80209078	chr15:56790688-56790689	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28468551	chr15:56790740-56790741	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532293730	chr15:56790774-56790775	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140131671	chr15:56790812-56790813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545655880	chr15:56790839-56790840	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368655066	chr15:56790857-56790858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564942873	chr15:56790903-56790904	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538979690	chr15:56791032-56791033	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527634703	chr15:56791043-56791044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184058454	chr15:56791079-56791080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201163367	chr15:56791157-56791158	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146955683	chr15:56791186-56791187	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567741722	chr15:56791217-56791218	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28430876	chr15:56791240-56791241	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368121400	chr15:56791243-56791244	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550328849	chr15:56791278-56791279	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570235050	chr15:56791286-56791287	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187636984	chr15:56791344-56791345	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138044554	chr15:56791418-56791419	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565724715	chr15:56791444-56791445	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76964234	chr15:56791450-56791451	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554402164	chr15:56791474-56791475	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56788800-56790800	Enhancers	Dnd41	blood
2	chr15:56789200-56792800	Weak transcription	Thymus	Thymus
3	chr15:56789400-56790000	Weak transcription	Fetal Thymus	thymus
4	chr15:56789400-56790200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:56790000-56790400	ZNF genes & repeats	Fetal Thymus	thymus
6	chr15:56790400-56790600	Genic enhancers	Fetal Thymus	thymus
7	chr15:56790600-56791200	Strong transcription	Fetal Thymus	thymus
8	chr15:56790800-56792200	Weak transcription	Dnd41	blood
9	chr15:56791200-56792400	Genic enhancers	Fetal Thymus	thymus
10	chr15:56792200-56792800	Enhancers	Dnd41	blood
11	chr15:56792400-56792800	Weak transcription	Fetal Thymus	thymus
12	chr15:56792800-56793200	ZNF genes & repeats	Fetal Thymus	thymus
13	chr15:56792800-56793200	ZNF genes & repeats	Thymus	Thymus
14	chr15:56793200-56793400	Weak transcription	Fetal Thymus	thymus
15	chr15:56793200-56798000	Weak transcription	Thymus	Thymus
16	chr15:56798000-56798600	ZNF genes & repeats	Thymus	Thymus
17	chr15:56798400-56798600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:56799400-56799800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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