Variant report

Variant	esv3327066
Chromosome Location	chr7:27083652-27086200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:27085899-27085908	HepG2	liver:	n/a	n/a
2	FOS	chr7:27086117-27086846	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:27086133-27087114	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr7:27086170-27087128	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr7:27086119-27086830	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA2	chr7:27083793-27084255	A549	lung:	n/a	n/a
7	GABPA	chr7:27085551-27085650	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr7:27085363-27085731	K562	blood:	n/a	n/a
9	NR2F2	chr7:27085305-27085754	K562	blood:	n/a	n/a
10	NR2F2	chr7:27085211-27085785	K562	blood:	n/a	n/a
11	NR3C1	chr7:27085539-27085653	A549	lung:	n/a	n/a
12	PAX5	chr7:27083648-27084051	GM12878	blood:	n/a	n/a
13	PAX5	chr7:27083718-27084005	GM12878	blood:	n/a	n/a
14	PAX5	chr7:27083688-27083988	GM12878	blood:	n/a	n/a
15	PAX5	chr7:27083690-27084064	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:27085562-27085644	A549	lung:	n/a	n/a
17	REST	chr7:27085537-27085606	U87	brain:	n/a	n/a
18	REST	chr7:27084056-27084327	PANC-1	pancreas:	n/a	n/a
19	SP1	chr7:27085349-27085611	HepG2	liver:	n/a	n/a
20	USF1	chr7:27085547-27085655	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	7:27082525-27089724..7:27181770-27195105	Hela-S3	cervix:
2	7:27082525-27089724..7:27176959-27181770	Hela-S3	cervix:
3	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:
4	7:27082525-27089724..7:27165488-27167947	Hela-S3	cervix:

No data

Variant related genes	Relation type
NHP2P2	TF binding region
ENSG00000105991	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000106006	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80225093	chr7:27083683-27083684	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs539670257	chr7:27083698-27083699	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs371029505	chr7:27083702-27083703	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs547874811	chr7:27083703-27083704	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs183888975	chr7:27083717-27083718	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs371608889	chr7:27083722-27083723	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs70994622	chr7:27083741-27083742	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs2428419	chr7:27083748-27083749	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555125361	chr7:27083779-27083780	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs575250047	chr7:27083814-27083815	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs10229631	chr7:27083845-27083846	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs564045042	chr7:27083851-27083852	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs577100981	chr7:27083852-27083853	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs10259123	chr7:27083853-27083854	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs369015776	chr7:27083861-27083862	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs570979498	chr7:27083874-27083875	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs373232609	chr7:27083875-27083876	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs112915853	chr7:27083931-27083932	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs530376693	chr7:27083944-27083945	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs528622233	chr7:27083956-27083957	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs554174769	chr7:27083971-27083972	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs542355572	chr7:27084032-27084033	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs562032348	chr7:27084033-27084034	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs530968250	chr7:27084117-27084118	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs6972488	chr7:27084164-27084165	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs369355058	chr7:27084165-27084166	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs192491482	chr7:27084172-27084173	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs373088936	chr7:27084220-27084221	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs550677407	chr7:27084232-27084233	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs527248862	chr7:27084279-27084280	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs376282037	chr7:27084308-27084309	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs541343033	chr7:27084320-27084321	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs570828911	chr7:27084325-27084326	Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs533279123	chr7:27084349-27084350	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs546872663	chr7:27084385-27084386	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs566672601	chr7:27084425-27084426	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs535290891	chr7:27084428-27084429	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs555482818	chr7:27084457-27084458	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs370871229	chr7:27084458-27084459	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs568845212	chr7:27084512-27084513	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs537876702	chr7:27084553-27084554	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs182199544	chr7:27084581-27084582	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs577185528	chr7:27084582-27084583	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs546098374	chr7:27084592-27084593	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs553204917	chr7:27084593-27084594	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs573141509	chr7:27084599-27084600	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs368150810	chr7:27084614-27084615	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs542040709	chr7:27084616-27084617	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs187136683	chr7:27084648-27084649	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs370385622	chr7:27084712-27084713	Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27081200-27086400	Weak transcription	A549	lung
2	chr7:27082200-27086200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:27086000-27086400	Enhancers	HUVEC	blood vessel
4	chr7:27086000-27087400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:27086200-27086400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:27086200-27086400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:27086200-27086600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:27086200-27086600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:27086200-27086600	Enhancers	Osteobl	bone
10	chr7:27086200-27086800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:27086200-27086800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:27086200-27086800	Enhancers	NHDF-Ad	bronchial
13	chr7:27086200-27087200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:27086200-27087200	Enhancers	NHEK	skin
15	chr7:27086200-27087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:27086200-27087400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:27086200-27087400	Enhancers	Hela-S3	cervix
18	chr7:27086200-27088200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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