Variant report

Variant	nsv904240
Chromosome Location	chr15:55177426-55233979
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
2	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
3	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
4	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
5	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:
6	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-3	chr15:55212817-55213114	ucExp_388_-
2	lnc-UNC13C-3	chr15:55212817-55213114	ucExp_388_+

No data

Extended variants
information (count: 608 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:608 , 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	rs1319333	chr15:55177426-55177427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572789538	chr15:55177446-55177447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541467989	chr15:55177449-55177450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147667226	chr15:55177452-55177453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13329260	chr15:55177462-55177463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550615243	chr15:55177480-55177481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543077922	chr15:55177487-55177488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564544815	chr15:55177489-55177490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373525242	chr15:55177495-55177496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562625275	chr15:55177503-55177504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187039514	chr15:55177563-55177564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544246313	chr15:55177652-55177653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs68161686	chr15:55177653-55177654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75436669	chr15:55177668-55177669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58595057	chr15:55177677-55177678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114677631	chr15:55177678-55177679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34180151	chr15:55177691-55177692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs80069645	chr15:55177715-55177716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549410084	chr15:55177753-55177754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35237517	chr15:55177754-55177755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150219470	chr15:55177806-55177807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376560898	chr15:55177809-55177810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28608160	chr15:55177835-55177836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558261678	chr15:55177855-55177856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7174275	chr15:55177902-55177903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201868853	chr15:55177932-55177933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138774591	chr15:55177938-55177939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539291017	chr15:55177941-55177942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548502405	chr15:55177942-55177943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7174318	chr15:55177969-55177970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561866226	chr15:55177983-55177984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553028165	chr15:55182215-55182216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566528295	chr15:55182249-55182250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1813667	chr15:55182279-55182280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs142700398	chr15:55182280-55182281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150580176	chr15:55182291-55182292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367953228	chr15:55182292-55182293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560887752	chr15:55182338-55182339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529514037	chr15:55182354-55182355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549366424	chr15:55182384-55182385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116377612	chr15:55182386-55182387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188627392	chr15:55182429-55182430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551485917	chr15:55182462-55182463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1846925	chr15:55182477-55182478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539291181	chr15:55182491-55182492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181149545	chr15:55182494-55182495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566763833	chr15:55182514-55182515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184263327	chr15:55182524-55182525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189277581	chr15:55182541-55182542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180887920	chr15:55182602-55182603	Enhancers ZNF genes & repeats	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
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55176000-55178000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:55176800-55177800	Enhancers	Primary hematopoietic stem cells	blood
3	chr15:55177200-55177600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr15:55182200-55182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:55182600-55183000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:55182800-55183600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr15:55182800-55183600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:55183200-55183400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr15:55183600-55184600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:55208200-55208400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:55209400-55209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:55225200-55252800	Weak transcription	Aorta	Aorta
13	chr15:55232200-55233800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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