Variant report

Variant	esv3413988
Chromosome Location	chr15:43986060-43991458
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	FOXP2	chr15:43985943-43986286	PFSK-1	brain:	n/a	n/a
2	MYC	chr15:43985616-43986080	MCF-7	breast:	n/a	chr15:43985805-43985815
3	MYC	chr15:43988236-43988314	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr15:43985388-43986486	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:43987067-43987174	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr15:43985689-43986296	MCF-7	breast:	n/a	n/a
7	POLR2A	chr15:43986415-43986424	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:43985408-43986694	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:43985653-43986295	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:43985461-43986551	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr15:43985843-43986099	A549	lung:	n/a	n/a
12	POLR2A	chr15:43984599-43987115	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:43986755-43986829	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:43985771-43986259	A549	lung:	n/a	n/a
15	POLR2A	chr15:43985707-43986533	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr15:43986391-43986408	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:43985598-43986385	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:43991164-43991338	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr15:43986775-43987018	HepG2	liver:	n/a	n/a
20	REST	chr15:43986820-43986972	HepG2	liver:	n/a	n/a
21	REST	chr15:43985450-43986171	HepG2	liver:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
22	REST	chr15:43985506-43986448	SK-N-SH	brain:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
23	REST	chr15:43985351-43986537	U87	brain:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
24	REST	chr15:43985529-43986242	U87	brain:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
25	REST	chr15:43985462-43986695	H1-hESC	embryonic stem cell:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
26	REST	chr15:43986756-43987253	U87	brain:	n/a	n/a
27	REST	chr15:43986806-43987178	PANC-1	pancreas:	n/a	n/a
28	REST	chr15:43985322-43987276	PFSK-1	brain:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43987254-43987262 chr15:43985922-43985932
29	REST	chr15:43986756-43987179	U87	brain:	n/a	n/a
30	REST	chr15:43986861-43986983	PFSK-1	brain:	n/a	n/a
31	REST	chr15:43985462-43986302	PFSK-1	brain:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
32	REST	chr15:43986705-43987054	H1-hESC	embryonic stem cell:	n/a	n/a
33	REST	chr15:43985334-43986660	U87	brain:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
34	REST	chr15:43985597-43986348	HepG2	liver:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
35	REST	chr15:43986849-43987135	GM12878	blood:	n/a	n/a
36	REST	chr15:43985525-43986542	U87	brain:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
37	REST	chr15:43985460-43986214	GM12878	blood:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
38	REST	chr15:43986736-43987069	HepG2	liver:	n/a	n/a
39	REST	chr15:43986861-43986971	GM12878	blood:	n/a	n/a
40	REST	chr15:43985494-43986361	PANC-1	pancreas:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
41	REST	chr15:43986724-43987094	GM12878	blood:	n/a	n/a
42	REST	chr15:43985330-43986542	H1-hESC	embryonic stem cell:	n/a	chr15:43986506-43986516 chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
43	REST	chr15:43985441-43986335	HepG2	liver:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
44	REST	chr15:43985520-43986284	SK-N-SH	brain:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
45	REST	chr15:43986836-43987096	SK-N-SH	brain:	n/a	n/a
46	REST	chr15:43986824-43987022	HepG2	liver:	n/a	n/a
47	REST	chr15:43986748-43986949	SK-N-SH	brain:	n/a	n/a
48	REST	chr15:43985401-43986324	GM12878	blood:	n/a	chr15:43985813-43985822 chr15:43985824-43985838 chr15:43985922-43985932
49	REST	chr15:43986709-43987108	H1-hESC	embryonic stem cell:	n/a	n/a
50	REST	chr15:43986839-43987076	PANC-1	pancreas:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:43989074-43989124	SAEC	small airway:	n/a
2	chr15:43989074-43989124	AG04449	skin:	fetal
3	chr15:43991375-43991425	HEK293	kidney:	embryo
4	chr15:43991375-43991425	GM12891	blood:	n/a
5	chr15:43989074-43989124	HCM	heart:	n/a
6	chr15:43989074-43989124	GM12878	blood:	n/a
7	chr15:43991375-43991425	IMR90	lung:	fetal
8	chr15:43989074-43989124	MCF10A-Er-Src	breast:	n/a
9	chr15:43989074-43989124	K562	blood:	n/a
10	chr15:43991375-43991425	HNPCEpiC	eye:	n/a
11	chr15:43991375-43991425	Hepatocyte	liver:	n/a
12	chr15:43991375-43991425	AG04450	lung:	fetal
13	chr15:43989074-43989124	HL-60	blood:	n/a
14	chr15:43989074-43989124	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:43991375-43991425	ECC-1	luminal epithelium:	n/a
16	chr15:43989074-43989124	Caco-2	colon:	n/a
17	chr15:43989074-43989124	HNPCEpiC	eye:	n/a
18	chr15:43989074-43989124	SKMC	muscle:	n/a
19	chr15:43991375-43991425	SK-N-SH	brain:	n/a
20	chr15:43991375-43991425	MCF-7	breast:	n/a
21	chr15:43989074-43989124	HCF	heart:	n/a
22	chr15:43991375-43991425	HCF	heart:	n/a
23	chr15:43991375-43991425	SKMC	muscle:	n/a
24	chr15:43989074-43989124	CMK	blood:	n/a
25	chr15:43991375-43991425	HEEpiC	esophagus:	n/a
26	chr15:43989074-43989124	Hepatocyte	liver:	n/a
27	chr15:43991375-43991425	HCM	heart:	n/a
28	chr15:43989074-43989124	SK-N-SH	brain:	n/a
29	chr15:43991375-43991425	HPAEpiC	pulmonary alveolar:	n/a
30	chr15:43991375-43991425	NHDF-neo	bronchial:	n/a
31	chr15:43989074-43989124	HEK293	kidney:	embryo
32	chr15:43991375-43991425	U87	brain:	n/a
33	chr15:43989074-43989124	PrEC	prostate:	n/a
34	chr15:43991375-43991425	ProgFib	skin:	n/a
35	chr15:43989074-43989124	SK-N-MC	brain:	n/a
36	chr15:43989074-43989124	GM12891	blood:	n/a
37	chr15:43989074-43989124	Hela-S3	cervix:	n/a
38	chr15:43991375-43991425	BJ	skin:	n/a
39	chr15:43991375-43991425	A549	lung:	n/a
40	chr15:43989074-43989124	HCPEpiC	choroid plexus:	n/a
41	chr15:43991375-43991425	HRE	kidney:	n/a
42	chr15:43991375-43991425	AG10803	skin:	n/a
43	chr15:43989074-43989124	AG09309	skin:	n/a
44	chr15:43989074-43989124	HEEpiC	esophagus:	n/a
45	chr15:43991375-43991425	SK-N-MC	brain:	n/a
46	chr15:43991375-43991425	NT2-D1	testis:	n/a
47	chr15:43991375-43991425	AG09309	skin:	n/a
48	chr15:43991375-43991425	HRPEpiC	eye:	n/a
49	chr15:43991375-43991425	MCF10A-Er-Src	breast:	n/a
50	chr15:43991375-43991425	NB4	blood:	n/a

Variant related genes	Relation type
RNU6-353P	TF binding region
CKMT1A	TF binding region
RNU6-353P	CpG island
CKMT1A	CpG island

Extended variants
information (count: 160 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143868168	chr15:43987598-43987599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111900295	chr15:43987769-43987770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553500936	chr15:43988236-43988237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113878606	chr15:43988381-43988382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200864718	chr15:43988386-43988387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201907165	chr15:43988428-43988429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369299635	chr15:43988477-43988478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566737145	chr15:43988517-43988518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375725599	chr15:43988521-43988522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145266097	chr15:43988525-43988526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558234493	chr15:43988538-43988539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201851130	chr15:43988539-43988540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147613562	chr15:43988547-43988548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369817014	chr15:43988548-43988549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373122439	chr15:43988568-43988569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2259951	chr15:43988573-43988574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2259950	chr15:43988575-43988576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370564047	chr15:43988578-43988579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200100382	chr15:43988587-43988588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368146351	chr15:43988590-43988591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367721666	chr15:43988597-43988598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28578041	chr15:43988604-43988605	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs560356063	chr15:43988630-43988631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3866938	chr15:43988643-43988644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113935795	chr15:43988648-43988649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2412807	chr15:43988655-43988656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2412808	chr15:43988665-43988666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2411270	chr15:43988668-43988669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2411269	chr15:43988682-43988683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370484698	chr15:43988686-43988687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2411268	chr15:43988696-43988697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565132424	chr15:43988706-43988707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3866939	chr15:43988709-43988710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565418491	chr15:43988771-43988772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530911281	chr15:43988796-43988797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550978832	chr15:43988825-43988826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567570454	chr15:43988837-43988838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28433760	chr15:43988841-43988842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546985999	chr15:43988842-43988843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566679064	chr15:43988907-43988908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538894156	chr15:43988914-43988915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558223907	chr15:43988943-43988944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148587334	chr15:43989034-43989035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537420923	chr15:43989035-43989036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554521886	chr15:43989038-43989039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574365605	chr15:43989074-43989075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534053733	chr15:43989075-43989076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554154346	chr15:43989186-43989187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577101880	chr15:43989351-43989352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546054483	chr15:43989453-43989454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	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
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
Mental retardation	17124404	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43942000-43992400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:43969800-43993400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr15:43985000-43988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:43985000-43996800	Weak transcription	NHEK	skin
5	chr15:43985200-43988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:43985200-43994600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:43986600-43988600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:43986600-43988600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:43987000-43988600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:43987000-43988600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr15:43987000-43989200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:43987000-43994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:43987000-43995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:43987000-43996400	Weak transcription	Gastric	stomach
15	chr15:43987200-43989600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr15:43987200-43996800	Weak transcription	HMEC	breast
17	chr15:43987400-43994200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:43987400-43998600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:43987800-43994400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:43987800-43996400	Weak transcription	Fetal Intestine Large	intestine
21	chr15:43988000-43994200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:43988200-43992600	Weak transcription	Esophagus	oesophagus
23	chr15:43988200-43995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:43988200-43996600	Weak transcription	Colonic Mucosa	Colon
25	chr15:43988600-43989000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr15:43988600-43990000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:43988600-43990000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:43988600-43990000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:43988600-43990000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr15:43988600-43990000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr15:43988600-43991000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr15:43989000-43998200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr15:43989200-43990000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:43989600-43989800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:43989600-43990000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:43989800-43996600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr15:43990000-43990800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:43990000-43992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:43990000-43993800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr15:43990000-43996400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr15:43990000-43996600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:43990000-43998200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr15:43990000-43998200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:43990800-43991400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:43991000-43992600	Weak transcription	Placenta	Placenta
46	chr15:43991400-43998600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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