Variant report

Variant	esv2416237
Chromosome Location	chr15:50787298-50787715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50644389..50649393-chr15:50787180..50791359,7	MCF-7	breast:
2	chr15:50778343..50781320-chr15:50786483..50789113,2	K562	blood:
3	chr15:50646468..50650762-chr15:50786083..50789645,4	K562	blood:
4	chr15:50781518..50783831-chr15:50786910..50789444,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244879	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000104064	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368504473	chr15:50787316-50787317	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539026829	chr15:50787317-50787318	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs551376618	chr15:50787351-50787352	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs147090227	chr15:50787387-50787388	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs566600561	chr15:50787395-50787396	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs577089941	chr15:50787400-50787401	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs28648524	chr15:50787409-50787410	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs148014458	chr15:50787412-50787413	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs147661253	chr15:50787425-50787426	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs148202858	chr15:50787429-50787430	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369402456	chr15:50787430-50787431	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs12917204	chr15:50787431-50787432	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs550337316	chr15:50787440-50787441	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs55695579	chr15:50787442-50787443	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557001375	chr15:50787458-50787459	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs11635410	chr15:50787466-50787467	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs11630698	chr15:50787470-50787471	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs11635411	chr15:50787478-50787479	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs570476090	chr15:50787488-50787489	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs11635412	chr15:50787492-50787493	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11630702	chr15:50787494-50787495	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs71394993	chr15:50787498-50787499	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs575355974	chr15:50787516-50787517	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs144613012	chr15:50787526-50787527	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs192643601	chr15:50787546-50787547	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs202183767	chr15:50787549-50787550	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs148252480	chr15:50787551-50787552	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs55666551	chr15:50787556-50787557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs187327114	chr15:50787558-50787559	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs562398066	chr15:50787569-50787570	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs386783908	chr15:50787680-50787681	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs553634288	chr15:50787683-50787684	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs535330043	chr15:50787685-50787686	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs562538972	chr15:50787686-50787687	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs200676327	chr15:50787689-50787690	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs545743513	chr15:50787691-50787692	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551047234	chr15:50787699-50787700	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr15:50751000-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:50751000-50796600	Strong transcription	Fetal Thymus	thymus
8	chr15:50754400-50797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:50756600-50795800	Strong transcription	Adipose Nuclei	Adipose
10	chr15:50757000-50796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:50757000-50796800	Strong transcription	Liver	Liver
12	chr15:50761800-50794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:50762400-50794000	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr15:50763000-50795800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:50763600-50796200	Strong transcription	Primary T cells from cord blood	blood
16	chr15:50768000-50796800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:50768200-50794000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:50768400-50797000	Strong transcription	Duodenum Mucosa	Duodenum
19	chr15:50768400-50797000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:50768800-50796000	Strong transcription	Hela-S3	cervix
21	chr15:50770200-50794000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:50771200-50796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:50772400-50796000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:50772800-50796000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr15:50774200-50797600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr15:50775600-50795400	Weak transcription	Stomach Mucosa	stomach
27	chr15:50776000-50796000	Strong transcription	Fetal Intestine Large	intestine
28	chr15:50776400-50789400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:50776400-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:50776400-50796000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:50777000-50796000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:50777200-50791600	Strong transcription	Fetal Muscle Leg	muscle
33	chr15:50777400-50796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:50777800-50789200	Strong transcription	Fetal Stomach	stomach
35	chr15:50777800-50789600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:50778400-50796800	Strong transcription	Primary B cells from cord blood	blood
37	chr15:50778800-50796000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr15:50779200-50795400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr15:50779400-50794200	Strong transcription	NH-A	brain
40	chr15:50779400-50796000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:50779400-50796800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:50779600-50793200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr15:50779600-50794000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr15:50779600-50794200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:50779800-50793800	Strong transcription	Osteobl	bone
46	chr15:50779800-50795800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:50779800-50795800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:50780000-50792800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr15:50780000-50796200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:50780200-50793400	Strong transcription	Fetal Muscle Trunk	muscle

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