Variant report

Variant	nsv606299
Chromosome Location	chr7:15603853-15637887
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	CEBPB	chr7:15604558-15604764	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:15634927-15635120	HepG2	liver:	n/a	chr7:15635073-15635084
3	CHD1	chr7:15637462-15637471	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr7:15620713-15620886	GM12878	blood:	n/a	n/a
5	CTCF	chr7:15613860-15614010	Caco-2	colon:	n/a	n/a
6	CTCF	chr7:15631840-15631990	AoAF	blood vessel:	n/a	n/a
7	E2F4	chr7:15635080-15635199	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr7:15621149-15621495	GM12878	blood:	n/a	n/a
9	EP300	chr7:15620557-15620882	GM12878	blood:	n/a	chr7:15620603-15620617
10	EP300	chr7:15621226-15621454	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr7:15611068-15611436	SK-N-SH_RA	brain:	n/a	n/a
12	FOS	chr7:15611170-15611563	HUVEC	blood vessel:	n/a	chr7:15611342-15611353
13	FOS	chr7:15611192-15611455	MCF10A-Er-Src	breast:	n/a	chr7:15611342-15611353
14	FOS	chr7:15610095-15610225	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr7:15627758-15627958	MCF10A-Er-Src	breast:	n/a	chr7:15627872-15627881 chr7:15627873-15627880
16	FOS	chr7:15611187-15611497	MCF10A-Er-Src	breast:	n/a	chr7:15611342-15611353
17	FOS	chr7:15616862-15616898	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr7:15611193-15611462	MCF10A-Er-Src	breast:	n/a	chr7:15611342-15611353
19	FOS	chr7:15627790-15627895	MCF10A-Er-Src	breast:	n/a	chr7:15627872-15627881 chr7:15627873-15627880
20	FOS	chr7:15611159-15611466	MCF10A-Er-Src	breast:	n/a	chr7:15611342-15611353
21	FOSL2	chr7:15611045-15611605	SK-N-SH	brain:	n/a	n/a
22	FOXA1	chr7:15617286-15617461	T-47D	breast:	n/a	n/a
23	GATA2	chr7:15612213-15612456	SH-SY5Y	brain:	n/a	n/a
24	GATA2	chr7:15611062-15611529	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr7:15610955-15611694	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr7:15634093-15634473	T-47D	breast:	n/a	chr7:15634310-15634331 chr7:15634301-15634313 chr7:15634316-15634324
27	GATA3	chr7:15610995-15611710	SK-N-SH	brain:	n/a	n/a
28	GATA3	chr7:15607136-15607145	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr7:15634145-15634455	T-47D	breast:	n/a	chr7:15634310-15634331 chr7:15634301-15634313 chr7:15634316-15634324
30	GATA3	chr7:15611885-15612178	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr7:15610948-15611620	A549	lung:	n/a	n/a
32	GATA3	chr7:15617681-15618041	T-47D	breast:	n/a	n/a
33	GATA3	chr7:15617554-15618103	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr7:15611191-15611432	T-47D	breast:	n/a	n/a
35	GATA3	chr7:15634135-15634457	MCF-7	breast:	n/a	chr7:15634310-15634331 chr7:15634301-15634313 chr7:15634316-15634324
36	JUND	chr7:15611052-15611640	SK-N-SH	brain:	n/a	n/a
37	JUND	chr7:15627803-15627984	HepG2	liver:	n/a	chr7:15627871-15627882 chr7:15627872-15627881 chr7:15627873-15627880
38	JUND	chr7:15611038-15611581	SK-N-SH	brain:	n/a	n/a
39	KAP1	chr7:15624066-15624779	HEK293	kidney:	n/a	n/a
40	KAP1	chr7:15624235-15624617	K562	blood:	n/a	n/a
41	MAFK	chr7:15627773-15627941	HepG2	liver:	n/a	n/a
42	MAFK	chr7:15621305-15621354	HepG2	liver:	n/a	n/a
43	MAX	chr7:15611975-15611979	NB4	blood:	n/a	n/a
44	MYC	chr7:15611306-15611421	MCF10A-Er-Src	breast:	n/a	n/a
45	NFIC	chr7:15611114-15611512	SK-N-SH	brain:	n/a	n/a
46	NFIC	chr7:15610972-15611666	SK-N-SH	brain:	n/a	n/a
47	NRF1	chr7:15626131-15626152	H1-hESC	embryonic stem cell:	n/a	n/a
48	PBX3	chr7:15610987-15611468	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr7:15620731-15620767	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr7:15624431-15624605	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:15611475..15614112-chr7:15875900..15877965,2	K562	blood:
2	chr7:15583030..15584744-chr7:15618985..15621103,2	K562	blood:

Variant related genes	Relation type
AGMO	TF binding region

Extended variants
information (count: 1450 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17389549	chr7:15603853-15603854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569634873	chr7:15603901-15603902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555493615	chr7:15603966-15603967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573902746	chr7:15603999-15604000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544465498	chr7:15604000-15604001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564950951	chr7:15604027-15604028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575107463	chr7:15604087-15604088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149150931	chr7:15604089-15604090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564017893	chr7:15604104-15604105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116741763	chr7:15604112-15604113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540335994	chr7:15604135-15604136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73679654	chr7:15604164-15604165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs56238209	chr7:15604175-15604176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529117317	chr7:15604238-15604239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183474449	chr7:15604255-15604256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569166074	chr7:15604292-15604293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533163033	chr7:15604340-15604341	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370658181	chr7:15604361-15604362	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs115433835	chr7:15604405-15604406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75090298	chr7:15604432-15604433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566755097	chr7:15604468-15604469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533986455	chr7:15604469-15604470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143227498	chr7:15604489-15604490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148334687	chr7:15604490-15604491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188302528	chr7:15604498-15604499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191606544	chr7:15604503-15604504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370207206	chr7:15604511-15604512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545481693	chr7:15604512-15604513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11979518	chr7:15604580-15604581	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184085368	chr7:15604583-15604584	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs540297083	chr7:15604600-15604601	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs143075517	chr7:15604633-15604634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs78025569	chr7:15604657-15604658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs544458642	chr7:15604687-15604688	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs562635975	chr7:15604717-15604718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs377156517	chr7:15604719-15604720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs73294359	chr7:15604749-15604750	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551394761	chr7:15604767-15604768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116572822	chr7:15604792-15604793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147094463	chr7:15604808-15604809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370340742	chr7:15604827-15604828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535209545	chr7:15604842-15604843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138443350	chr7:15604860-15604861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374229410	chr7:15604863-15604864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368925659	chr7:15604911-15604912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181516802	chr7:15604945-15604946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79076953	chr7:15604946-15604947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571754573	chr7:15604952-15604953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116343237	chr7:15604958-15604959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558100079	chr7:15604973-15604974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15601800-15606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:15602400-15605600	Weak transcription	Liver	Liver
3	chr7:15604400-15604600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:15605600-15607600	Enhancers	Liver	Liver
5	chr7:15606800-15607400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:15606800-15607600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:15606800-15607800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:15607600-15610000	Weak transcription	Liver	Liver
9	chr7:15610000-15610200	Enhancers	Liver	Liver
10	chr7:15610800-15611600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:15610800-15611800	Enhancers	HUVEC	blood vessel
12	chr7:15610800-15612000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:15611000-15611200	Weak transcription	Liver	Liver
14	chr7:15611000-15611800	Enhancers	Osteobl	bone
15	chr7:15611000-15612000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:15611200-15611400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:15611200-15611600	Enhancers	NHDF-Ad	bronchial
18	chr7:15611200-15611800	Enhancers	Fetal Intestine Large	intestine
19	chr7:15617200-15618600	Enhancers	Liver	Liver
20	chr7:15617400-15618000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr7:15618000-15618200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr7:15618200-15621200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:15618600-15619000	Weak transcription	Liver	Liver
24	chr7:15619000-15620400	Enhancers	Liver	Liver
25	chr7:15619600-15619800	Enhancers	Left Ventricle	heart
26	chr7:15619800-15624400	Weak transcription	Left Ventricle	heart
27	chr7:15620200-15620600	Enhancers	NHDF-Ad	bronchial
28	chr7:15620200-15621000	Enhancers	Duodenum Mucosa	Duodenum
29	chr7:15620200-15621400	Enhancers	Colon Smooth Muscle	Colon
30	chr7:15620200-15621400	Enhancers	Fetal Intestine Small	intestine
31	chr7:15620400-15621200	Flanking Active TSS	Liver	Liver
32	chr7:15620600-15621000	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:15620600-15621200	Flanking Active TSS	NHDF-Ad	bronchial
34	chr7:15620600-15621400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:15620800-15621000	Enhancers	Fetal Lung	lung
36	chr7:15620800-15621200	Enhancers	Adipose Nuclei	Adipose
37	chr7:15620800-15621400	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:15621000-15624400	Weak transcription	Fetal Lung	lung
39	chr7:15621200-15621800	Enhancers	Liver	Liver
40	chr7:15621200-15621800	Enhancers	NHDF-Ad	bronchial
41	chr7:15621800-15623400	Weak transcription	Liver	Liver
42	chr7:15622800-15623400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:15623400-15624800	ZNF genes & repeats	Liver	Liver
44	chr7:15623800-15624200	Weak transcription	Adipose Nuclei	Adipose
45	chr7:15624200-15625000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr7:15624400-15624800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:15624400-15624800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:15624400-15624800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:15624400-15624800	ZNF genes & repeats	Fetal Lung	lung
50	chr7:15624400-15624800	Enhancers	Gastric	stomach

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