Variant report

Variant	nsv904239
Chromosome Location	chr15:55141265-55272996
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
2	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:
3	chr15:55188424..55190542-chr15:55196033..55198017,2	K562	blood:
4	chr15:55150804..55152762-chr15:55153752..55155795,2	K562	blood:
5	chr15:55189915..55191896-chr15:55191995..55194330,2	K562	blood:
6	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
7	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:
8	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: 2006 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2006 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1879332	chr15:55141265-55141266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533607224	chr15:55141271-55141272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs28625070	chr15:55141292-55141293	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189878772	chr15:55141306-55141307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546209746	chr15:55141308-55141309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1879333	chr15:55141309-55141310	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10468011	chr15:55141329-55141330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs180824550	chr15:55141406-55141407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1879334	chr15:55141411-55141412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542783150	chr15:55141418-55141419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530887437	chr15:55141429-55141430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562361638	chr15:55141472-55141473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77050944	chr15:55141505-55141506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1501383	chr15:55141533-55141534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575895389	chr15:55141543-55141544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76667230	chr15:55141595-55141596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79137112	chr15:55141596-55141597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1392982	chr15:55141627-55141628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs552232636	chr15:55141632-55141633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28477639	chr15:55141751-55141752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565955234	chr15:55141754-55141755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140176754	chr15:55141809-55141810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548160734	chr15:55141839-55141840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568182318	chr15:55141856-55141857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111666041	chr15:55141891-55141892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11855666	chr15:55141896-55141897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571003329	chr15:55141910-55141911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540015464	chr15:55141943-55141944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553402315	chr15:55141954-55141955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200288938	chr15:55141959-55141960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1809920	chr15:55141960-55141961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7180890	chr15:55141961-55141962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377445001	chr15:55141962-55141963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189236651	chr15:55142000-55142001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573157863	chr15:55142001-55142002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181984902	chr15:55142028-55142029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375851331	chr15:55142047-55142048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555309443	chr15:55142070-55142071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575216758	chr15:55142074-55142075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369008228	chr15:55142089-55142090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564599202	chr15:55142141-55142142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186318333	chr15:55142157-55142158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2001489	chr15:55142175-55142176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190378075	chr15:55142202-55142203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181918223	chr15:55142206-55142207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144892698	chr15:55142212-55142213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141917970	chr15:55142213-55142214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373705940	chr15:55142246-55142247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570489159	chr15:55142267-55142268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4774716	chr15:55142285-55142286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55141200-55141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:55141400-55142400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:55142400-55142600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:55142400-55143200	Enhancers	Gastric	stomach
5	chr15:55155200-55155800	Enhancers	Fetal Muscle Trunk	muscle
6	chr15:55160200-55160400	Active TSS	Small Intestine	intestine
7	chr15:55176000-55176200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:55176000-55178000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:55176200-55177200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr15:55176400-55177400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:55176600-55177200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:55176800-55177200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:55176800-55177800	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:55177200-55177600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr15:55182200-55182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:55182600-55183000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:55182800-55183600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr15:55182800-55183600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:55183200-55183400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr15:55183600-55184600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr15:55208200-55208400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:55209400-55209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:55225200-55252800	Weak transcription	Aorta	Aorta
24	chr15:55232200-55233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:55243400-55244800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:55247400-55248200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:55249000-55249600	Enhancers	Fetal Brain Female	brain
28	chr15:55252200-55253000	Enhancers	Colon Smooth Muscle	Colon
29	chr15:55252800-55253000	Enhancers	Aorta	Aorta
30	chr15:55253000-55253400	Weak transcription	Aorta	Aorta
31	chr15:55253000-55254200	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:55253400-55253600	Enhancers	Aorta	Aorta
33	chr15:55253400-55253600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr15:55253600-55255400	Weak transcription	Aorta	Aorta
35	chr15:55253800-55254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:55254000-55254400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr15:55254200-55254400	Enhancers	Colon Smooth Muscle	Colon
38	chr15:55254200-55254400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr15:55254600-55255000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:55254800-55255200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:55255400-55255600	ZNF genes & repeats	Aorta	Aorta
42	chr15:55270000-55272200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:55272200-55272400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:55272200-55272600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr15:55272200-55272800	Active TSS	Fetal Brain Male	brain
46	chr15:55272200-55273000	Enhancers	Fetal Stomach	stomach

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