Variant report

Variant	nsv818486
Chromosome Location	chr7:15078991-15159483
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	BACH1	chr7:15136729-15136926	K562	blood:	n/a	n/a
2	CEBPB	chr7:15107146-15107394	A549	lung:	n/a	chr7:15107268-15107279
3	CEBPB	chr7:15080351-15081311	Hela-S3	cervix:	n/a	chr7:15081129-15081142
4	CEBPB	chr7:15107126-15107433	IMR90	lung:	n/a	chr7:15107268-15107279
5	CEBPB	chr7:15107141-15107395	HepG2	liver:	n/a	chr7:15107268-15107279
6	CEBPB	chr7:15126055-15126326	IMR90	lung:	n/a	chr7:15126178-15126189
7	CEBPB	chr7:15126038-15126244	HepG2	liver:	n/a	chr7:15126178-15126189
8	CEBPB	chr7:15126040-15126347	Hela-S3	cervix:	n/a	chr7:15126178-15126189
9	CEBPB	chr7:15107136-15107410	Hela-S3	cervix:	n/a	chr7:15107268-15107279
10	CTCF	chr7:15092220-15092370	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr7:15092160-15092310	HEK293	kidney:	n/a	n/a
12	CTCF	chr7:15084939-15084973	K562	blood:	n/a	n/a
13	CTCF	chr7:15093689-15093709	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:15092200-15092350	GM12872	blood:	n/a	n/a
15	CTCF	chr7:15096960-15097110	RPTEC	kidney:	n/a	chr7:15097001-15097010
16	CTCF	chr7:15145291-15145325	GM13976	blood:	n/a	n/a
17	CTCF	chr7:15092040-15092190	BE2_C	brain:	n/a	n/a
18	E2F4	chr7:15131415-15131579	MCF10A-Er-Src	breast:	n/a	n/a
19	EBF1	chr7:15144494-15144667	GM12878	blood:	n/a	chr7:15144582-15144591
20	EBF1	chr7:15121380-15121387	GM12878	blood:	n/a	n/a
21	EBF1	chr7:15117406-15117602	GM12878	blood:	n/a	chr7:15117516-15117527
22	EBF1	chr7:15105605-15105662	GM12878	blood:	n/a	n/a
23	EBF1	chr7:15117249-15117908	GM12878	blood:	n/a	chr7:15117516-15117527
24	EP300	chr7:15143536-15144961	SK-N-SH	brain:	n/a	chr7:15144252-15144262 chr7:15143922-15143931 chr7:15144268-15144282
25	EP300	chr7:15138666-15139462	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr7:15080938-15081155	Hela-S3	cervix:	n/a	chr7:15081127-15081141
27	EP300	chr7:15144040-15144738	SK-N-SH_RA	brain:	n/a	chr7:15144252-15144262 chr7:15144268-15144282
28	EP300	chr7:15107995-15108299	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr7:15138544-15139226	SK-N-SH	brain:	n/a	n/a
30	EP300	chr7:15117442-15117591	GM12878	blood:	n/a	n/a
31	EP300	chr7:15138598-15139345	SK-N-SH_RA	brain:	n/a	n/a
32	EP300	chr7:15143977-15144754	SK-N-SH_RA	brain:	n/a	chr7:15144252-15144262 chr7:15144268-15144282
33	EP300	chr7:15081540-15081977	T-47D	breast:	n/a	chr7:15081882-15081896
34	EP300	chr7:15109887-15109931	GM12878	blood:	n/a	n/a
35	EP300	chr7:15138252-15139855	SK-N-SH	brain:	n/a	n/a
36	ESR1	chr7:15081560-15081976	T-47D	breast:	n/a	n/a
37	ESR1	chr7:15124069-15124435	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr7:15127250-15127896	ECC-1	luminal epithelium:	n/a	n/a
39	ESR1	chr7:15127209-15127826	ECC-1	luminal epithelium:	n/a	n/a
40	ESR1	chr7:15081575-15081929	T-47D	breast:	n/a	n/a
41	ESR1	chr7:15127313-15127661	ECC-1	luminal epithelium:	n/a	n/a
42	ESR1	chr7:15127246-15127819	ECC-1	luminal epithelium:	n/a	n/a
43	ESR1	chr7:15081560-15082053	T-47D	breast:	n/a	n/a
44	FOS	chr7:15139381-15139630	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr7:15139541-15139653	MCF10A-Er-Src	breast:	n/a	chr7:15139631-15139638
46	FOS	chr7:15119590-15119810	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:15124325-15124341	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr7:15153416-15153808	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr7:15153408-15153819	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr7:15153408-15153820	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:10529800..10530510-chr7:15146578..15147089,2	MCF-7	breast:
2	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-4	chr7:15107930-15108276	XLOC_005990
2	lnc-AC006035.2-4	chr7:15105832-15106137	XLOC_005990

Variant related genes	Relation type
ENSG00000227489	TF binding region
ENSG00000111846	chromatin interactions

Extended variants
information (count: 1734 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1734 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371308659	chr7:15080401-15080402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543716724	chr7:15080409-15080410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146717436	chr7:15080411-15080412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs218070	chr7:15080486-15080487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549587026	chr7:15080515-15080516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566118957	chr7:15080527-15080528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528631747	chr7:15080549-15080550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551895014	chr7:15080622-15080623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76966759	chr7:15080743-15080744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187019332	chr7:15080815-15080816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557312441	chr7:15080818-15080819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567515929	chr7:15080869-15080870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191958342	chr7:15080876-15080877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542126937	chr7:15080883-15080884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574962662	chr7:15080893-15080894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184387849	chr7:15080897-15080898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572952436	chr7:15080958-15080959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545131841	chr7:15080994-15080995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572159076	chr7:15081021-15081022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17378248	chr7:15081022-15081023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527665033	chr7:15081092-15081093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193230444	chr7:15081126-15081127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529617945	chr7:15081136-15081137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542948976	chr7:15081150-15081151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148907089	chr7:15081153-15081154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143582208	chr7:15081173-15081174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185745304	chr7:15081226-15081227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189422652	chr7:15081300-15081301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180911958	chr7:15081306-15081307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17378283	chr7:15081348-15081349	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs218071	chr7:15081373-15081374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs218072	chr7:15081393-15081394	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185914625	chr7:15081408-15081409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397802230	chr7:15081418-15081419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190472940	chr7:15081420-15081421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367694289	chr7:15081448-15081449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552986609	chr7:15081454-15081455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10274459	chr7:15081455-15081456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10258855	chr7:15081593-15081594	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558444886	chr7:15081645-15081646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372613114	chr7:15081662-15081663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368944532	chr7:15081783-15081784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148087593	chr7:15081787-15081788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549172553	chr7:15081812-15081813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183984527	chr7:15081825-15081826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537525221	chr7:15081836-15081837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200822676	chr7:15081853-15081854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141864017	chr7:15081884-15081885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs218073	chr7:15081904-15081905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188773183	chr7:15081905-15081906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15080400-15080600	Enhancers	Colon Smooth Muscle	Colon
2	chr7:15080400-15081800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:15080400-15082800	Enhancers	HUVEC	blood vessel
4	chr7:15080600-15082800	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:15081000-15081400	Enhancers	Rectal Smooth Muscle	rectum
6	chr7:15081400-15081800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:15081600-15082800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:15081800-15082000	Enhancers	Rectal Smooth Muscle	rectum
9	chr7:15081800-15082400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:15081800-15083200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:15082000-15083000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:15082800-15084600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:15083000-15084600	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:15083200-15083800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr7:15083600-15084000	Enhancers	Fetal Stomach	stomach
16	chr7:15083600-15084000	Enhancers	Left Ventricle	heart
17	chr7:15084600-15093600	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:15086400-15087000	Enhancers	Fetal Intestine Small	intestine
19	chr7:15086600-15087000	Enhancers	Liver	Liver
20	chr7:15090200-15093400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:15092600-15096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:15093400-15093600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:15093600-15093800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:15093600-15094000	Enhancers	Colon Smooth Muscle	Colon
25	chr7:15093800-15094000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:15094000-15094400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:15094000-15096800	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:15094400-15095000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:15095000-15095400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:15095800-15097600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:15096400-15097000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:15096800-15097200	Enhancers	Fetal Intestine Large	intestine
33	chr7:15096800-15097400	Enhancers	Colon Smooth Muscle	Colon
34	chr7:15097400-15098400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:15098400-15099200	Enhancers	Colon Smooth Muscle	Colon
36	chr7:15098600-15100000	Enhancers	Rectal Smooth Muscle	rectum
37	chr7:15099200-15100000	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:15099200-15100000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr7:15100000-15100200	Enhancers	Colon Smooth Muscle	Colon
40	chr7:15105600-15106000	Active TSS	Fetal Intestine Large	intestine
41	chr7:15112800-15113400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:15113200-15113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:15120400-15121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:15121000-15122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:15122400-15122600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:15124000-15124200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:15124400-15125400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:15124600-15125000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:15124600-15125400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:15124600-15127400	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links