Variant report

Variant	esv3436890
Chromosome Location	chr7:87344166-87345464
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	ARID3A	chr7:87344877-87345209	HepG2	liver:	n/a	n/a
2	CEBPB	chr7:87344904-87345088	HepG2	liver:	n/a	n/a
3	CEBPB	chr7:87344845-87345227	HepG2	liver:	n/a	n/a
4	FOXA1	chr7:87344866-87345139	HepG2	liver:	n/a	n/a
5	FOXA1	chr7:87344838-87345079	HepG2	liver:	n/a	n/a
6	FOXA1	chr7:87344901-87345168	HepG2	liver:	n/a	n/a
7	FOXA2	chr7:87344882-87345121	HepG2	liver:	n/a	n/a
8	MYC	chr7:87344205-87344279	MCF-7	breast:	n/a	n/a
9	MYC	chr7:87344199-87344221	MCF-7	breast:	n/a	n/a
10	MYC	chr7:87344222-87344251	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:87344181-87344310	MCF-7	breast:	n/a	n/a
12	POLR2A	chr7:87344474-87344630	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABCB1	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375206800	chr7:87344201-87344202	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369377720	chr7:87344203-87344204	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185287707	chr7:87344205-87344206	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs28381710	chr7:87344206-87344207	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549795303	chr7:87344224-87344225	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569279874	chr7:87344244-87344245	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs189359987	chr7:87344245-87344246	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558290951	chr7:87344262-87344263	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566946148	chr7:87344288-87344289	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs10232449	chr7:87344350-87344351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181948604	chr7:87344375-87344376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10261685	chr7:87344418-87344419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577358954	chr7:87344455-87344456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185122525	chr7:87344518-87344519	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555303593	chr7:87344553-87344554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556559535	chr7:87344590-87344591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs10248345	chr7:87344608-87344609	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28518771	chr7:87344613-87344614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs28444383	chr7:87344637-87344638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562764545	chr7:87344648-87344649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541391943	chr7:87344670-87344671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7791440	chr7:87344676-87344677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7808045	chr7:87344677-87344678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560102693	chr7:87344682-87344683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181034572	chr7:87344685-87344686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201850000	chr7:87344738-87344739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4728711	chr7:87344744-87344745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571586470	chr7:87344771-87344772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199704465	chr7:87344790-87344791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199718071	chr7:87344833-87344834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571761756	chr7:87344844-87344845	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs13231929	chr7:87344938-87344939	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs199472675	chr7:87344961-87344962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs62489863	chr7:87344964-87344965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs564344966	chr7:87344981-87344982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs531399830	chr7:87344993-87344994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550074797	chr7:87345033-87345034	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115652614	chr7:87345124-87345125	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs186436936	chr7:87345140-87345141	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs138674018	chr7:87345188-87345189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs566983090	chr7:87345194-87345195	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534333076	chr7:87345207-87345208	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs552389821	chr7:87345208-87345209	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs541363815	chr7:87345211-87345212	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs374480987	chr7:87345253-87345254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79824909	chr7:87345303-87345304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191284273	chr7:87345406-87345407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28572147	chr7:87345407-87345408	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183550321	chr7:87345449-87345450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87332600-87360000	Weak transcription	Liver	Liver
2	chr7:87345400-87345800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links