Variant report

Variant	nsv1036047
Chromosome Location	chr15:55128287-55182824
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	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:
2	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:

Extended variants
information (count: 650 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572996463	chr15:55128321-55128322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541900917	chr15:55128338-55128339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556503698	chr15:55128413-55128414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556006373	chr15:55128442-55128443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575837044	chr15:55128459-55128460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367766051	chr15:55128495-55128496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150715504	chr15:55128500-55128501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7166215	chr15:55128506-55128507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs117592222	chr15:55128531-55128532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140203685	chr15:55128540-55128541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529353493	chr15:55128541-55128542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115175277	chr15:55128550-55128551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143900075	chr15:55128572-55128573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530760650	chr15:55128611-55128612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550485801	chr15:55128617-55128618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188800654	chr15:55128629-55128630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146864556	chr15:55128630-55128631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539715767	chr15:55128635-55128636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553007681	chr15:55128644-55128645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115483788	chr15:55128676-55128677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373093169	chr15:55128682-55128683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535435735	chr15:55128696-55128697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555487050	chr15:55128718-55128719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575229907	chr15:55128737-55128738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150026880	chr15:55128756-55128757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145263521	chr15:55128760-55128761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572689247	chr15:55128814-55128815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577941180	chr15:55128832-55128833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12903549	chr15:55128833-55128834	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149160523	chr15:55128842-55128843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193033106	chr15:55128852-55128853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371033786	chr15:55128856-55128857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373485541	chr15:55128859-55128860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185338481	chr15:55128869-55128870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150814530	chr15:55128870-55128871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143258790	chr15:55128917-55128918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558297727	chr15:55128924-55128925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531672166	chr15:55128993-55128994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112781524	chr15:55128997-55128998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570525979	chr15:55129034-55129035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7165857	chr15:55129046-55129047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs188256012	chr15:55129050-55129051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566750487	chr15:55129057-55129058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535489019	chr15:55129060-55129061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs924549	chr15:55129075-55129076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568939898	chr15:55129107-55129108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147875667	chr15:55129118-55129119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192763756	chr15:55129123-55129124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183578390	chr15:55129124-55129125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376577661	chr15:55129140-55129141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Renal cell carcinoma	21215367	CNVD
Cancer	20164919	CNVD

Chromatin state (count:40 , 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
20	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr15:55139400-55139800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:55139600-55140000	Enhancers	Primary hematopoietic stem cells	blood
23	chr15:55141200-55141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:55141400-55142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr15:55142400-55142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:55142400-55143200	Enhancers	Gastric	stomach
27	chr15:55155200-55155800	Enhancers	Fetal Muscle Trunk	muscle
28	chr15:55160200-55160400	Active TSS	Small Intestine	intestine
29	chr15:55176000-55176200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr15:55176000-55178000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr15:55176200-55177200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr15:55176400-55177400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:55176600-55177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:55176800-55177200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr15:55176800-55177800	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:55177200-55177600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:55182200-55182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:55182600-55183000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:55182800-55183600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr15:55182800-55183600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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