Variant report

Variant	esv3342123
Chromosome Location	chr7:53048792-53071050
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	CBX3	chr7:53053123-53053374	K562	blood:	n/a	n/a
2	CEBPB	chr7:53049612-53049915	HepG2	liver:	n/a	chr7:53049739-53049752 chr7:53049740-53049751 chr7:53049785-53049796
3	CEBPB	chr7:53049704-53049817	K562	blood:	n/a	chr7:53049739-53049752 chr7:53049740-53049751 chr7:53049785-53049796
4	CTCF	chr7:53049460-53049610	GM12878	blood:	n/a	n/a
5	CTCF	chr7:53066550-53066577	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:53066504-53066534	GM20000	blood:	n/a	n/a
7	CTCF	chr7:53066460-53066610	RPTEC	kidney:	n/a	n/a
8	CTCF	chr7:53066360-53066510	BE2_C	brain:	n/a	n/a
9	CTCF	chr7:53066380-53066530	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr7:53069141-53069216	GM10248	blood:	n/a	n/a
11	CTCF	chr7:53066526-53066644	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:53066557-53066587	Gliobla	brain:	n/a	n/a
13	GATA3	chr7:53056129-53056436	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr7:53056699-53056762	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr7:53063602-53063701	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr7:53058315-53058421	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr7:53069567-53069756	SH-SY5Y	brain:	n/a	n/a
18	IRF1	chr7:53064852-53064895	K562	blood:	n/a	n/a
19	IRF3	chr7:53048756-53048792	GM12878	blood:	n/a	n/a
20	KAP1	chr7:53053113-53053435	K562	blood:	n/a	n/a
21	MAFF	chr7:53052682-53052906	HepG2	liver:	n/a	chr7:53052744-53052762
22	MAFK	chr7:53052666-53052866	HepG2	liver:	n/a	n/a
23	MAFK	chr7:53055223-53055403	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:53066568-53066578	A549	lung:	n/a	n/a
25	POLR2A	chr7:53057475-53057499	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr7:53069086-53069190	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr7:53058904-53059054	Gliobla	brain:	n/a	n/a
28	STAT3	chr7:53054241-53054371	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr7:53064023-53064223	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF7L2	chr7:53065293-53065825	HepG2	liver:	n/a	n/a
31	TCF7L2	chr7:53070094-53070384	Hela-S3	cervix:	n/a	n/a
32	ZNF143	chr7:53070557-53070637	GM12878	blood:	n/a	n/a
33	ZNF143	chr7:53053050-53053443	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000223970	TF binding region

Extended variants
information (count: 326 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553729443	chr7:53048831-53048832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573534161	chr7:53048832-53048833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34073974	chr7:53048835-53048836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542553981	chr7:53048883-53048884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143819215	chr7:53048926-53048927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146863783	chr7:53048970-53048971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544679064	chr7:53049016-53049017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564465936	chr7:53049044-53049045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535552868	chr7:53049048-53049049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546632510	chr7:53049113-53049114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560546539	chr7:53049163-53049164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140722388	chr7:53049169-53049170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548893287	chr7:53049173-53049174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142996606	chr7:53049174-53049175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531442281	chr7:53049202-53049203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190539503	chr7:53049214-53049215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571206766	chr7:53049215-53049216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528760138	chr7:53049216-53049217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533894965	chr7:53049230-53049231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370187104	chr7:53049259-53049260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373607444	chr7:53049269-53049270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12535959	chr7:53049297-53049298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536135779	chr7:53049304-53049305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556132995	chr7:53049311-53049312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575901095	chr7:53049332-53049333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544527367	chr7:53049353-53049354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77412351	chr7:53049389-53049390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532956825	chr7:53049392-53049393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540737010	chr7:53049402-53049403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560087320	chr7:53049424-53049425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529283287	chr7:53049469-53049470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151137520	chr7:53049491-53049492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368545612	chr7:53049519-53049520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562488660	chr7:53049522-53049523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140127782	chr7:53049524-53049525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551245162	chr7:53049566-53049567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571433393	chr7:53049587-53049588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183071753	chr7:53049626-53049627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11238241	chr7:53049631-53049632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs187728178	chr7:53049632-53049633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150314890	chr7:53049653-53049654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76956440	chr7:53049684-53049685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78727334	chr7:53049705-53049706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192638798	chr7:53049733-53049734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200777087	chr7:53049775-53049776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75399729	chr7:53049782-53049783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569526272	chr7:53049802-53049803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375246287	chr7:53049814-53049815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76140617	chr7:53049834-53049835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558034522	chr7:53049841-53049842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53030800-53051800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53047600-53048800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:53049800-53050400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:53052400-53054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:53052800-53053600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:53068800-53069200	Enhancers	Ovary	ovary

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