Variant report

Variant	esv2761870
Chromosome Location	chr15:42815733-42821267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:42815423-42815935	HepG2	liver:	n/a	chr15:42815690-42815705
2	FOXA1	chr15:42815552-42815931	HepG2	liver:	n/a	chr15:42815690-42815705
3	FOXA1	chr15:42815563-42815795	HepG2	liver:	n/a	chr15:42815690-42815705
4	FOXA1	chr15:42815565-42815951	HepG2	liver:	n/a	chr15:42815690-42815705
5	FOXA2	chr15:42815522-42815833	HepG2	liver:	n/a	n/a
6	IRF1	chr15:42818710-42818711	K562	blood:	n/a	n/a
7	MAFK	chr15:42817576-42817622	HepG2	liver:	n/a	chr15:42817588-42817599 chr15:42817584-42817599 chr15:42817587-42817601 chr15:42817588-42817599
8	MAFK	chr15:42817455-42817619	HepG2	liver:	n/a	chr15:42817588-42817599 chr15:42817584-42817599 chr15:42817587-42817601 chr15:42817588-42817599
9	MYC	chr15:42820578-42820606	H1-hESC	embryonic stem cell:	n/a	n/a
10	NR2F2	chr15:42815487-42815983	MCF-7	breast:	n/a	chr15:42815742-42815757
11	POLR2A	chr15:42820573-42820681	ProgFib	skin:	n/a	n/a
12	POLR2A	chr15:42820582-42820659	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr15:42820467-42820474	K562	blood:	n/a	n/a
14	RXRA	chr15:42817283-42817463	HepG2	liver:	n/a	n/a
15	TCF7L2	chr15:42815556-42815942	PANC-1	pancreas:	n/a	n/a
16	ZBTB33	chr15:42817263-42817443	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:42820710..42823548-chr15:42825501..42827370,2	K562	blood:
2	chr15:42812167..42816411-chr15:42819043..42822094,4	K562	blood:
3	chr15:42817015..42818748-chr15:42821725..42824500,2	K562	blood:

Variant related genes	Relation type
SNAP23	TF binding region
ENSG00000092531	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2617236	chr15:42815733-42815734	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181966722	chr15:42815736-42815737	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547422593	chr15:42815818-42815819	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10518766	chr15:42815880-42815881	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs541632087	chr15:42815988-42815989	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs144295533	chr15:42816004-42816005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532517912	chr15:42816008-42816009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532392211	chr15:42816022-42816023	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186177297	chr15:42816040-42816041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563132857	chr15:42816101-42816102	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531877533	chr15:42816157-42816158	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs548887586	chr15:42816169-42816170	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs568016221	chr15:42816172-42816173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533782294	chr15:42816207-42816208	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547459997	chr15:42816213-42816214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570538365	chr15:42816313-42816314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539552188	chr15:42816338-42816339	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556049461	chr15:42816366-42816367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569853403	chr15:42816384-42816385	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs535341354	chr15:42816394-42816395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536420494	chr15:42816413-42816414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548442369	chr15:42816443-42816444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572047789	chr15:42816452-42816453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540230531	chr15:42816468-42816469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144229772	chr15:42816510-42816511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577251805	chr15:42816541-42816542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112012735	chr15:42816545-42816546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58372549	chr15:42816555-42816556	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562915315	chr15:42816562-42816563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6493049	chr15:42816563-42816564	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531843327	chr15:42816571-42816572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190243153	chr15:42816572-42816573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528018119	chr15:42816582-42816583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6493050	chr15:42816601-42816602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561563480	chr15:42816660-42816661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554312140	chr15:42816664-42816665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141416085	chr15:42816671-42816672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569709369	chr15:42816675-42816676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1871156	chr15:42816731-42816732	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs555188401	chr15:42816746-42816747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537387629	chr15:42816778-42816779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565617283	chr15:42816839-42816840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2255995	chr15:42816868-42816869	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs553718291	chr15:42816875-42816876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182822900	chr15:42816924-42816925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72184592	chr15:42816977-42816978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545933284	chr15:42817004-42817005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375444018	chr15:42817035-42817036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs8035781	chr15:42817041-42817042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116906882	chr15:42817089-42817090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Melanoma	17363583	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42790800-42821400	Weak transcription	Right Ventricle	heart
2	chr15:42793000-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:42793800-42837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:42797400-42839800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr15:42797600-42822200	Weak transcription	Small Intestine	intestine
6	chr15:42797600-42839400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:42799200-42839400	Weak transcription	Stomach Mucosa	stomach
8	chr15:42802400-42839200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:42802600-42817400	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:42802800-42817200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr15:42803200-42837200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:42803600-42839400	Weak transcription	A549	lung
13	chr15:42803800-42817600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:42804000-42826800	Strong transcription	HUVEC	blood vessel
15	chr15:42804600-42836400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:42804800-42817200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:42804800-42817400	Strong transcription	Adipose Nuclei	Adipose
18	chr15:42804800-42818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:42804800-42818000	Strong transcription	Fetal Intestine Large	intestine
20	chr15:42804800-42825400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:42804800-42828800	Strong transcription	Placenta	Placenta
22	chr15:42804800-42836400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:42804800-42836400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr15:42805000-42818400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42805000-42818800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:42805000-42818800	Strong transcription	NH-A	brain
27	chr15:42805200-42817000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:42805200-42817600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:42805200-42825800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:42805400-42816600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:42805400-42816600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:42805400-42836800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:42805600-42818400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:42805600-42818800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:42806200-42836400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:42806200-42839000	Weak transcription	Fetal Brain Male	brain
37	chr15:42807200-42816600	Weak transcription	Pancreas	Pancrea
38	chr15:42807600-42821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:42808200-42820400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:42808200-42824800	Weak transcription	Hela-S3	cervix
41	chr15:42808400-42820000	Weak transcription	K562	blood
42	chr15:42808400-42821400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:42808400-42822000	Weak transcription	HMEC	breast
44	chr15:42808400-42839000	Weak transcription	Fetal Heart	heart
45	chr15:42808800-42821000	Weak transcription	Aorta	Aorta
46	chr15:42808800-42836000	Weak transcription	Esophagus	oesophagus
47	chr15:42810200-42816400	Weak transcription	Brain Substantia Nigra	brain
48	chr15:42810200-42831000	Weak transcription	Gastric	stomach
49	chr15:42810200-42840200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:42810400-42816200	Weak transcription	Brain Germinal Matrix	brain

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