Variant report

Variant	esv1796647
Chromosome Location	chr7:125488428-125556600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:157)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:157 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr7:125507517-125507664	K562	blood:	n/a	n/a
2	CEBPB	chr7:125516622-125516826	A549	lung:	n/a	chr7:125516666-125516677
3	CEBPB	chr7:125539818-125539959	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:125517391-125517767	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr7:125516506-125516823	HepG2	liver:	n/a	chr7:125516666-125516677
6	CEBPB	chr7:125553556-125553759	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr7:125516469-125516872	Hela-S3	cervix:	n/a	chr7:125516666-125516677
8	CEBPB	chr7:125518695-125519476	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr7:125505949-125506035	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr7:125497039-125497286	HepG2	liver:	n/a	n/a
11	CTCF	chr7:125551930-125551935	GM13977	blood:	n/a	n/a
12	CTCF	chr7:125539660-125539810	NB4	blood:	n/a	n/a
13	CTCF	chr7:125517430-125517568	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr7:125542323-125542428	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:125517465-125517523	Gliobla	brain:	n/a	n/a
16	CTCF	chr7:125539760-125539910	HEK293	kidney:	n/a	n/a
17	CTCF	chr7:125539980-125540130	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:125512380-125512530	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr7:125539660-125539810	BE2_C	brain:	n/a	n/a
20	CTCF	chr7:125539820-125539970	GM12872	blood:	n/a	n/a
21	CTCF	chr7:125545120-125545270	K562	blood:	n/a	n/a
22	CTCF	chr7:125539880-125540030	BE2_C	brain:	n/a	n/a
23	CTCF	chr7:125539840-125539990	HCT-116	colon:	n/a	n/a
24	CTCF	chr7:125498720-125498870	HMEC	breast:	n/a	n/a
25	CTCF	chr7:125539720-125539870	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr7:125539700-125539850	BE2_C	brain:	n/a	n/a
27	E2F4	chr7:125490468-125490784	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr7:125516626-125516815	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr7:125496458-125496518	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr7:125505895-125506170	GM12878	blood:	n/a	n/a
31	EBF1	chr7:125505829-125506206	GM12878	blood:	n/a	n/a
32	ELK1	chr7:125548884-125549055	GM12878	blood:	n/a	n/a
33	ELK1	chr7:125548924-125548936	Hela-S3	cervix:	n/a	n/a
34	EP300	chr7:125518776-125519405	Hela-S3	cervix:	n/a	n/a
35	ESR1	chr7:125519040-125519385	ECC-1	luminal epithelium:	n/a	n/a
36	ESR1	chr7:125519052-125519360	ECC-1	luminal epithelium:	n/a	n/a
37	ESR1	chr7:125519056-125519301	ECC-1	luminal epithelium:	n/a	n/a
38	ESR1	chr7:125519049-125519463	ECC-1	luminal epithelium:	n/a	n/a
39	FOS	chr7:125490475-125490781	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr7:125490462-125490806	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:125497797-125498024	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:125497791-125497968	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr7:125516537-125516894	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr7:125490400-125490835	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr7:125516548-125516841	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr7:125497767-125498058	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:125516521-125516887	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr7:125548912-125549091	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr7:125516507-125516877	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr7:125490335-125490919	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
2	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
3	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
4	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197462	TF binding region

Extended variants
information (count: 929 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6467054	chr7:125488428-125488429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568231262	chr7:125488429-125488430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567839635	chr7:125488430-125488431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6964459	chr7:125488432-125488433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563018700	chr7:125488561-125488562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530528221	chr7:125488563-125488564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538180878	chr7:125488590-125488591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564350712	chr7:125488591-125488592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528352541	chr7:125488595-125488596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546907822	chr7:125488604-125488605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568277635	chr7:125488649-125488650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62479931	chr7:125488660-125488661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529275491	chr7:125488668-125488669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556783128	chr7:125488675-125488676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73720074	chr7:125488713-125488714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577576384	chr7:125488735-125488736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370481564	chr7:125488758-125488759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57848463	chr7:125488766-125488767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567084284	chr7:125488819-125488820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577154151	chr7:125488844-125488845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115880939	chr7:125488895-125488896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148040672	chr7:125488945-125488946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12535733	chr7:125488951-125488952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541381939	chr7:125489039-125489040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185600175	chr7:125489063-125489064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190117230	chr7:125489098-125489099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113182840	chr7:125489120-125489121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34273439	chr7:125489131-125489132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564110156	chr7:125489187-125489188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192950097	chr7:125489200-125489201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111573051	chr7:125489230-125489231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184811047	chr7:125489232-125489233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189720186	chr7:125489252-125489253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73720075	chr7:125489274-125489275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73720076	chr7:125489299-125489300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533248169	chr7:125489301-125489302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540313427	chr7:125489329-125489330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76142964	chr7:125489354-125489355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73437799	chr7:125489367-125489368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145703352	chr7:125489391-125489392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555688286	chr7:125489411-125489412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377328165	chr7:125489423-125489424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544942790	chr7:125489452-125489453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538191582	chr7:125489508-125489509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73720077	chr7:125489561-125489562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574926119	chr7:125489574-125489575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200248780	chr7:125489585-125489586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11761220	chr7:125489632-125489633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs180801764	chr7:125489692-125489693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185244315	chr7:125489706-125489707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125486800-125489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:125487600-125488600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:125487600-125488600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:125488200-125488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:125488200-125488800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:125488400-125488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:125488400-125488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:125488400-125488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:125488400-125488800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:125488400-125491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:125488800-125489000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:125488800-125490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:125490200-125490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:125490400-125490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:125493400-125493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:125515400-125515800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:125516000-125516600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
18	chr7:125516400-125518400	Enhancers	Hela-S3	cervix
19	chr7:125518400-125518800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:125518400-125518800	Flanking Active TSS	Hela-S3	cervix
21	chr7:125518800-125519200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:125518800-125519200	Active TSS	Hela-S3	cervix
23	chr7:125519200-125519600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:125519200-125519600	Flanking Active TSS	Hela-S3	cervix
25	chr7:125519600-125519800	Enhancers	Hela-S3	cervix
26	chr7:125533200-125534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:125545600-125549200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:125545600-125557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:125546200-125546800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr7:125548600-125549200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr7:125549200-125549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:125549400-125553400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:125550400-125551000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:125550600-125552000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:125550600-125553800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr7:125551000-125555800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:125552000-125553400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:125553400-125553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:125553400-125554000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
40	chr7:125553600-125555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:125553800-125558000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:125554000-125555000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:125555000-125555200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:125555000-125556000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:125555200-125555600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:125555600-125556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:125555600-125556000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
48	chr7:125555600-125556600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:125555600-125557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:125555600-125557000	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links