Variant report

Variant	esv3311801
Chromosome Location	chr15:56447929-56448915
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	chr15:56447230..56450204-chr15:56462832..56464767,2	K562	blood:
2	chr15:56448755..56450713-chr15:56452777..56455848,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576926265	chr15:56447935-56447936	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184322584	chr15:56447964-56447965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143733715	chr15:56447981-56447982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572811997	chr15:56447996-56447997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11631191	chr15:56448000-56448001	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs150614723	chr15:56448040-56448041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189844007	chr15:56448048-56448049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373025564	chr15:56448125-56448126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569107196	chr15:56448183-56448184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7167598	chr15:56448220-56448221	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563822802	chr15:56448231-56448232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180993226	chr15:56448234-56448235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12438525	chr15:56448253-56448254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372995430	chr15:56448263-56448264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560076636	chr15:56448267-56448268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528838841	chr15:56448280-56448281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75949610	chr15:56448325-56448326	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556184358	chr15:56448360-56448361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567998295	chr15:56448381-56448382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376961928	chr15:56448406-56448407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139716637	chr15:56448411-56448412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576233355	chr15:56448468-56448469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186012297	chr15:56448512-56448513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550375457	chr15:56448613-56448614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541587448	chr15:56448624-56448625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372636811	chr15:56448626-56448627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570529403	chr15:56448635-56448636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190438829	chr15:56448656-56448657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538709651	chr15:56448698-56448699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552791423	chr15:56448713-56448714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572797929	chr15:56448761-56448762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558802247	chr15:56448802-56448803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181787281	chr15:56448815-56448816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76143065	chr15:56448820-56448821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554529735	chr15:56448873-56448874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185870819	chr15:56448896-56448897	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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56424800-56453800	Weak transcription	Brain Substantia Nigra	brain
2	chr15:56433800-56464000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:56435200-56458800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:56435400-56461000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:56435400-56462400	Weak transcription	Fetal Thymus	thymus
6	chr15:56435400-56465200	Weak transcription	Thymus	Thymus
7	chr15:56435800-56454000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:56436000-56448600	Weak transcription	K562	blood
9	chr15:56436000-56458000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:56436400-56455800	Weak transcription	Liver	Liver
11	chr15:56436600-56458800	Weak transcription	Primary B cells from cord blood	blood
12	chr15:56441000-56453200	Weak transcription	A549	lung
13	chr15:56441000-56461400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:56442000-56457200	Weak transcription	HMEC	breast
15	chr15:56442000-56458000	Weak transcription	HepG2	liver
16	chr15:56442000-56462600	Weak transcription	HSMM	muscle
17	chr15:56442200-56451000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:56442200-56457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:56442600-56470600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:56442800-56450800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:56442800-56454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:56442800-56462600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:56443200-56452200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:56443200-56462600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:56446600-56468400	Weak transcription	Fetal Lung	lung
26	chr15:56447600-56448000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:56447600-56448600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:56447600-56451200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr15:56447600-56457800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:56447800-56455800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:56448000-56452200	Weak transcription	Primary T cells from cord blood	blood
32	chr15:56448000-56456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:56448200-56450200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:56448200-56458000	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr15:56448400-56460200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:56448600-56457800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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