Variant report

Variant	esv2760387
Chromosome Location	chr15:55129972-55137606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 241 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2695651	chr15:55129972-55129973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149269390	chr15:55129976-55129977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371326671	chr15:55130020-55130021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189752677	chr15:55130039-55130040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567486047	chr15:55130070-55130071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536837116	chr15:55130125-55130126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556606631	chr15:55130137-55130138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570324927	chr15:55130153-55130154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538697005	chr15:55130157-55130158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144468406	chr15:55130162-55130163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139098851	chr15:55130172-55130173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572573719	chr15:55130224-55130225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541506337	chr15:55130245-55130246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375932327	chr15:55130269-55130270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74379379	chr15:55130279-55130280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542807426	chr15:55130302-55130303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77799373	chr15:55130349-55130350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569568644	chr15:55130350-55130351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118052891	chr15:55130362-55130363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12900206	chr15:55130377-55130378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527401409	chr15:55130386-55130387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181376999	chr15:55130453-55130454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567332248	chr15:55130456-55130457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530276944	chr15:55130489-55130490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142311435	chr15:55130515-55130516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146398295	chr15:55130525-55130526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185752751	chr15:55130562-55130563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1813885	chr15:55130574-55130575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559012762	chr15:55130579-55130580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566042392	chr15:55130611-55130612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534998069	chr15:55130613-55130614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10558979	chr15:55130639-55130640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs57411406	chr15:55130641-55130642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189674048	chr15:55130653-55130654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555150835	chr15:55130719-55130720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139743958	chr15:55130727-55130728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542468537	chr15:55130779-55130780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182339102	chr15:55130784-55130785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369443305	chr15:55130789-55130790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187361120	chr15:55130830-55130831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs995296	chr15:55130865-55130866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564823334	chr15:55130901-55130902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192130747	chr15:55130962-55130963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183581088	chr15:55130965-55130966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560858420	chr15:55130989-55130990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529752615	chr15:55131020-55131021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4774708	chr15:55131047-55131048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs16975416	chr15:55131078-55131079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs532868778	chr15:55131082-55131083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188518447	chr15:55131110-55131111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	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
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55117600-55131800	Weak transcription	Aorta	Aorta
2	chr15:55131000-55131800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr15:55131000-55132400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr15:55131200-55132400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr15:55131200-55133200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr15:55131200-55133200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr15:55131800-55132000	Flanking Active TSS	Aorta	Aorta
8	chr15:55131800-55132800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:55131800-55133200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:55132000-55132200	Active TSS	Aorta	Aorta
11	chr15:55132000-55133200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr15:55132000-55133200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr15:55132400-55132800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:55132800-55133200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:55133000-55133200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr15:55133000-55133200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr15:55133000-55133200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:55134200-55136200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:55134400-55134600	Enhancers	Skeletal Muscle Female	skeletal muscle

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