Variant report

Variant	esv1811649
Chromosome Location	chr15:56702355-56714618
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	BHLHE40	chr15:56704886-56704981	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:56708065-56708209	HepG2	liver:	n/a	n/a
3	CEBPB	chr15:56708105-56708119	IMR90	lung:	n/a	n/a
4	CEBPB	chr15:56706437-56706660	A549	lung:	n/a	n/a
5	CTCF	chr15:56709345-56709384	LNCaP	prostate:	n/a	n/a
6	E2F4	chr15:56711154-56711285	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA3	chr15:56710317-56710353	SH-SY5Y	brain:	n/a	n/a
8	IKZF1	chr15:56703668-56703893	GM12878	blood:	n/a	n/a
9	MAFF	chr15:56703370-56703803	HepG2	liver:	n/a	n/a
10	MAFF	chr15:56703393-56703840	K562	blood:	n/a	n/a
11	MAFK	chr15:56703638-56703720	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr15:56703345-56703799	HepG2	liver:	n/a	chr15:56703460-56703475
13	MAFK	chr15:56703335-56703698	HepG2	liver:	n/a	chr15:56703460-56703475
14	MAFK	chr15:56703334-56703819	K562	blood:	n/a	chr15:56703460-56703475
15	MAFK	chr15:56703327-56703794	IMR90	lung:	n/a	chr15:56703460-56703475
16	POLR2A	chr15:56706703-56706752	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr15:56705169-56705313	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr15:56711271-56711315	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr15:56709606-56709635	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MNS1-1	chr15:56701994-56702384	ENSG00000261823.1

Variant related genes	Relation type
ENSG00000261823	TF binding region

Extended variants
information (count: 491 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1549452	chr15:56702355-56702356	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146694076	chr15:56702392-56702393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371178198	chr15:56702443-56702444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139108591	chr15:56702479-56702480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111376691	chr15:56702480-56702481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144981994	chr15:56702503-56702504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149091200	chr15:56702593-56702594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527491126	chr15:56702594-56702595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547231679	chr15:56702637-56702638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573045774	chr15:56702650-56702651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143947671	chr15:56702661-56702662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189735405	chr15:56702671-56702672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180749152	chr15:56702672-56702673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146067298	chr15:56702679-56702680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568955380	chr15:56702686-56702687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531596259	chr15:56702711-56702712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186329752	chr15:56702712-56702713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56824866	chr15:56702727-56702728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534425572	chr15:56702753-56702754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192073873	chr15:56702776-56702777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567843637	chr15:56702792-56702793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542109377	chr15:56702815-56702816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536974895	chr15:56702828-56702829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531670109	chr15:56702836-56702837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28408440	chr15:56702840-56702841	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115402961	chr15:56702865-56702866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183972641	chr15:56702932-56702933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558625030	chr15:56702975-56702976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188567986	chr15:56703067-56703068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28685291	chr15:56703077-56703078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560785385	chr15:56703085-56703086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191795516	chr15:56703088-56703089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543350391	chr15:56703130-56703131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141531689	chr15:56703197-56703198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183040358	chr15:56703226-56703227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372783704	chr15:56703246-56703247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78321827	chr15:56703257-56703258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569305256	chr15:56703273-56703274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186991282	chr15:56703282-56703283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547889292	chr15:56703357-56703358	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs147047773	chr15:56703396-56703397	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs148107199	chr15:56703433-56703434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530822439	chr15:56703444-56703445	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs79180804	chr15:56703467-56703468	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75589388	chr15:56703468-56703469	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs548506333	chr15:56703529-56703530	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs7181235	chr15:56703575-56703576	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538651696	chr15:56703576-56703577	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs76599373	chr15:56703587-56703588	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs58211066	chr15:56703588-56703589	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56665200-56733400	Weak transcription	Fetal Kidney	kidney
2	chr15:56677600-56709600	Weak transcription	Fetal Lung	lung
3	chr15:56677800-56726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:56686000-56734600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr15:56690000-56717400	Weak transcription	Dnd41	blood
6	chr15:56690000-56737800	Weak transcription	Stomach Mucosa	stomach
7	chr15:56699000-56706000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:56699200-56717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:56701400-56705200	Weak transcription	Small Intestine	intestine
10	chr15:56701800-56706800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:56702000-56704000	Enhancers	GM12878-XiMat	blood
12	chr15:56702800-56703200	Enhancers	Fetal Stomach	stomach
13	chr15:56702800-56703800	Enhancers	Fetal Brain Male	brain
14	chr15:56703200-56703400	Weak transcription	Fetal Stomach	stomach
15	chr15:56703400-56703600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:56703400-56703800	Enhancers	Fetal Stomach	stomach
17	chr15:56703600-56704000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:56703600-56718000	Weak transcription	Fetal Intestine Large	intestine
19	chr15:56703600-56730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:56704000-56706000	Weak transcription	GM12878-XiMat	blood
21	chr15:56704000-56734600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:56704200-56712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:56704600-56706200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:56704800-56708200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:56704800-56717800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr15:56705400-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:56706000-56706800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr15:56706000-56709800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:56706200-56706400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:56706400-56707200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:56706400-56709400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:56706800-56707200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr15:56706800-56709600	Weak transcription	GM12878-XiMat	blood
34	chr15:56707200-56715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr15:56707200-56718000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr15:56708200-56711200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:56709400-56710000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:56709600-56710200	ZNF genes & repeats	Fetal Lung	lung
39	chr15:56709800-56717200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:56710000-56716600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:56710200-56717200	Weak transcription	Fetal Lung	lung
42	chr15:56711200-56716400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:56711600-56724000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:56713200-56713400	Enhancers	HSMMtube	muscle
45	chr15:56713400-56718000	Weak transcription	HSMMtube	muscle

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