Variant report

Variant	nsv1038129
Chromosome Location	chr15:53111512-53142386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:53139577..53141179-chr15:53147410..53150139,2	MCF-7	breast:
2	chr15:53127363..53130328-chr15:53159239..53161065,2	MCF-7	breast:
3	chr15:53079651..53082730-chr15:53114348..53117214,3	MCF-7	breast:
4	chr15:53140110..53140838-chr5:122040574..122041537,2	MCF-7	breast:
5	chr15:53093578..53096252-chr15:53138309..53141218,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAPK6-18	chr15:53136240-53136402	l_1157_chr15:53136239-53171611_testes

No data

Variant related genes	Relation type
ENSG00000251538	chromatin interactions
ENSG00000169856	chromatin interactions

Extended variants
information (count: 822 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4278686	chr15:53111512-53111513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57094771	chr15:53111601-53111602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190034157	chr15:53111609-53111610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528876066	chr15:53111639-53111640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7179710	chr15:53111692-53111693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570271472	chr15:53111721-53111722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181615951	chr15:53111728-53111729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551616344	chr15:53111733-53111734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552496802	chr15:53111767-53111768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185645446	chr15:53111768-53111769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76631800	chr15:53111773-53111774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553045659	chr15:53111879-53111880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568142736	chr15:53111890-53111891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190500902	chr15:53111896-53111897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556909069	chr15:53111942-53111943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575452568	chr15:53111948-53111949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79502592	chr15:53111972-53111973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557710728	chr15:53112020-53112021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572993340	chr15:53112030-53112031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145562486	chr15:53112038-53112039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561753914	chr15:53112053-53112054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181012054	chr15:53112071-53112072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566555447	chr15:53112103-53112104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112809126	chr15:53112109-53112110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77423322	chr15:53112139-53112140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116507232	chr15:53112211-53112212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140914596	chr15:53112248-53112249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566564672	chr15:53112254-53112255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564573002	chr15:53112278-53112279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185226644	chr15:53112321-53112322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144758442	chr15:53112342-53112343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115193724	chr15:53112359-53112360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113481068	chr15:53112395-53112396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374259614	chr15:53112396-53112397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151269334	chr15:53112413-53112414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140457853	chr15:53112415-53112416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149975019	chr15:53112463-53112464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57168046	chr15:53112493-53112494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572985783	chr15:53112496-53112497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145102205	chr15:53112504-53112505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181227660	chr15:53112516-53112517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548714478	chr15:53112538-53112539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149099631	chr15:53112550-53112551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566912842	chr15:53112562-53112563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544286471	chr15:53112591-53112592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562386334	chr15:53112635-53112636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77912550	chr15:53112664-53112665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374542144	chr15:53112675-53112676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117836811	chr15:53112696-53112697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546209726	chr15:53112709-53112710	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
Breast cancer	21785460	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
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53100600-53116600	Weak transcription	Liver	Liver
2	chr15:53112200-53112400	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr15:53113800-53114000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:53113800-53114000	Enhancers	Pancreas	Pancrea
5	chr15:53114000-53114800	Weak transcription	Pancreas	Pancrea
6	chr15:53114000-53116400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:53114200-53115400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr15:53114400-53115200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr15:53114800-53115000	Enhancers	Pancreas	Pancrea
10	chr15:53114800-53115400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:53115000-53116600	Weak transcription	Pancreas	Pancrea
12	chr15:53116400-53116600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:53116400-53116600	Flanking Active TSS	HepG2	liver
14	chr15:53116400-53117000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:53116600-53117000	Flanking Active TSS	Liver	Liver
16	chr15:53116600-53117000	Active TSS	HepG2	liver
17	chr15:53116800-53117000	ZNF genes & repeats	Pancreas	Pancrea
18	chr15:53117000-53117400	Weak transcription	Pancreas	Pancrea
19	chr15:53117000-53117600	Enhancers	Liver	Liver
20	chr15:53124600-53124800	Weak transcription	Pancreas	Pancrea
21	chr15:53124800-53125000	Enhancers	Pancreas	Pancrea
22	chr15:53125000-53136400	Weak transcription	Pancreas	Pancrea
23	chr15:53126600-53126800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:53126600-53126800	Active TSS	Gastric	stomach
25	chr15:53126800-53127200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:53126800-53129000	Weak transcription	Gastric	stomach
27	chr15:53129000-53129200	Enhancers	Gastric	stomach
28	chr15:53136400-53136800	Enhancers	Pancreas	Pancrea

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