Variant report

Variant	nsv1028545
Chromosome Location	chr7:15440202-15554763
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	ATF1	chr7:15447516-15447947	K562	blood:	n/a	n/a
2	BRCA1	chr7:15511560-15511688	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:15458726-15459040	A549	lung:	n/a	n/a
4	CEBPB	chr7:15483484-15483779	IMR90	lung:	n/a	chr7:15483605-15483616
5	CEBPB	chr7:15506112-15506438	HepG2	liver:	n/a	chr7:15506286-15506297
6	CEBPB	chr7:15458749-15459010	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr7:15466810-15467126	IMR90	lung:	n/a	chr7:15466942-15466953
8	CEBPB	chr7:15447539-15447839	K562	blood:	n/a	n/a
9	CEBPB	chr7:15468127-15468377	HepG2	liver:	n/a	chr7:15468226-15468237
10	CEBPB	chr7:15458696-15459049	IMR90	lung:	n/a	n/a
11	CEBPB	chr7:15478355-15478692	A549	lung:	n/a	chr7:15478519-15478530
12	CEBPB	chr7:15506113-15506415	IMR90	lung:	n/a	chr7:15506286-15506297
13	CEBPB	chr7:15447580-15447867	HepG2	liver:	n/a	n/a
14	CEBPB	chr7:15544100-15544369	A549	lung:	n/a	chr7:15544193-15544204
15	CEBPB	chr7:15466850-15467116	HepG2	liver:	n/a	chr7:15466942-15466953
16	CEBPB	chr7:15483624-15483679	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr7:15506122-15506411	A549	lung:	n/a	chr7:15506286-15506297
18	CEBPB	chr7:15458723-15459054	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:15466804-15467001	K562	blood:	n/a	chr7:15466942-15466953
20	CEBPB	chr7:15515554-15515644	A549	lung:	n/a	n/a
21	CEBPB	chr7:15468148-15468383	IMR90	lung:	n/a	chr7:15468226-15468237
22	CEBPB	chr7:15478370-15478666	IMR90	lung:	n/a	chr7:15478519-15478530
23	CEBPB	chr7:15478389-15478692	HepG2	liver:	n/a	chr7:15478519-15478530
24	CEBPB	chr7:15483579-15483676	K562	blood:	n/a	chr7:15483605-15483616
25	CEBPB	chr7:15483429-15483757	HepG2	liver:	n/a	chr7:15483605-15483616
26	CTCF	chr7:15543600-15543750	HRPEpiC	eye:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
27	CTCF	chr7:15543620-15543770	AG10803	skin:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
28	CTCF	chr7:15543660-15543810	HBMEC	blood vessel:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
29	CTCF	chr7:15543700-15543850	AG10803	skin:	n/a	chr7:15543711-15543727
30	CTCF	chr7:15543620-15543770	HPAF	blood vessel:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
31	CTCF	chr7:15543680-15543830	MCF-7	breast:	n/a	chr7:15543711-15543727
32	CTCF	chr7:15543500-15543650	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr7:15446447-15446499	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr7:15543680-15543830	Caco-2	colon:	n/a	chr7:15543711-15543727
35	CTCF	chr7:15543580-15543730	HRE	kidney:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
36	CTCF	chr7:15543620-15543770	AG04449	skin:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
37	CTCF	chr7:15543580-15543730	AG09319	gingival:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
38	CTCF	chr7:15543620-15543770	HMF	breast:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
39	CTCF	chr7:15543587-15543787	GM12878	blood:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
40	CTCF	chr7:15472750-15472817	GM13976	blood:	n/a	n/a
41	CTCF	chr7:15543640-15543790	HPF	lung:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
42	CTCF	chr7:15543640-15543790	HCPEpiC	choroid plexus:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
43	CTCF	chr7:15543700-15543850	RPTEC	kidney:	n/a	chr7:15543711-15543727
44	CTCF	chr7:15543640-15543790	HCFaa	heart:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
45	CTCF	chr7:15543620-15543770	HFF	foreskin:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
46	CTCF	chr7:15544060-15544210	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr7:15543576-15543829	IMR90	lung:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
48	CTCF	chr7:15543640-15543790	HCM	heart:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
49	CTCF	chr7:15543600-15543750	HBMEC	blood vessel:	n/a	chr7:15543671-15543679 chr7:15543711-15543727
50	CTCF	chr7:15543608-15543836	HUVEC	blood vessel:	n/a	chr7:15543671-15543679 chr7:15543711-15543727

No.	Distal block	Cell Line	Cell type
1	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:
2	chr7:15543347..15544306-chr7:15760242..15761135,3	MCF-7	breast:
3	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MEOX2-5	chr7:15494576-15494813	NONHSAT119277

Variant related genes	Relation type
AGMO	TF binding region

Extended variants
information (count: 4399 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4399 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372808192	chr7:15440203-15440204	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138644901	chr7:15440208-15440209	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142761302	chr7:15440217-15440218	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375951530	chr7:15440362-15440363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563680685	chr7:15440385-15440386	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs537004646	chr7:15440408-15440409	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs74869898	chr7:15440433-15440434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147370618	chr7:15440468-15440469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570884708	chr7:15440578-15440579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565808073	chr7:15440590-15440591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546833411	chr7:15440605-15440606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539753425	chr7:15440640-15440641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10230083	chr7:15440659-15440660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370167553	chr7:15440668-15440669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10230285	chr7:15440670-15440671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554106270	chr7:15440675-15440676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374176301	chr7:15440692-15440693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575651971	chr7:15440709-15440710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536672601	chr7:15440716-15440717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202150172	chr7:15440721-15440722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558602765	chr7:15440723-15440724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567904980	chr7:15440731-15440732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576904359	chr7:15440826-15440827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541216475	chr7:15440874-15440875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559592255	chr7:15440943-15440944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535134299	chr7:15440948-15440949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189519743	chr7:15441068-15441069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139665688	chr7:15441089-15441090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181120136	chr7:15441106-15441107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377688640	chr7:15441119-15441120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185726164	chr7:15441136-15441137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552324576	chr7:15441180-15441181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372587594	chr7:15441265-15441266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149498736	chr7:15441354-15441355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528627162	chr7:15441365-15441366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189071857	chr7:15441395-15441396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73066583	chr7:15441400-15441401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144025982	chr7:15441423-15441424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148702963	chr7:15441482-15441483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569482418	chr7:15441485-15441486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368348722	chr7:15441531-15441532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114701941	chr7:15441605-15441606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142208293	chr7:15441616-15441617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143083768	chr7:15441623-15441624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12113254	chr7:15441643-15441644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149448430	chr7:15441668-15441669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553169125	chr7:15441684-15441685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139486705	chr7:15441687-15441688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544173840	chr7:15441700-15441701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75366174	chr7:15441722-15441723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15438000-15442400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:15438200-15442600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:15440000-15440600	Enhancers	Liver	Liver
4	chr7:15440600-15454000	Weak transcription	Liver	Liver
5	chr7:15441400-15441800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:15441800-15442200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:15442000-15442800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:15442200-15443000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:15442400-15442800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:15442600-15443000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:15442600-15443000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:15443400-15443800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:15443400-15443800	Active TSS	Ovary	ovary
14	chr7:15443600-15444200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:15443800-15447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:15444200-15447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:15447000-15448400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:15447200-15448600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:15447400-15447800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:15447400-15448400	Enhancers	HUVEC	blood vessel
22	chr7:15454000-15455600	Strong transcription	Liver	Liver
23	chr7:15455000-15455200	ZNF genes & repeats	Aorta	Aorta
24	chr7:15455200-15469800	Weak transcription	Aorta	Aorta
25	chr7:15455600-15456800	Weak transcription	Liver	Liver
26	chr7:15456800-15457400	Genic enhancers	Liver	Liver
27	chr7:15457400-15457600	Enhancers	Liver	Liver
28	chr7:15457600-15461200	Weak transcription	Liver	Liver
29	chr7:15458800-15459400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:15458800-15460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:15459400-15459600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:15459600-15459800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:15459800-15460000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:15460400-15464000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:15461200-15462600	Strong transcription	Liver	Liver
36	chr7:15462600-15466400	Weak transcription	Liver	Liver
37	chr7:15463400-15465000	Enhancers	Osteobl	bone
38	chr7:15463600-15464600	Enhancers	NHDF-Ad	bronchial
39	chr7:15464000-15464600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:15464600-15469200	Weak transcription	NHDF-Ad	bronchial
41	chr7:15466400-15469800	Strong transcription	Liver	Liver
42	chr7:15468000-15468600	Enhancers	Fetal Lung	lung
43	chr7:15469200-15469600	Enhancers	NHDF-Ad	bronchial
44	chr7:15469800-15489200	Weak transcription	Liver	Liver
45	chr7:15474000-15474200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:15474000-15474200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:15474000-15474200	Enhancers	Adipose Nuclei	Adipose
48	chr7:15474200-15474600	Active TSS	Adipose Nuclei	Adipose
49	chr7:15474200-15474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:15474200-15474800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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