Variant report

Variant	esv3366054
Chromosome Location	chr7:26906327-26908325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:26908280-26909348	Hela-S3	cervix:	n/a	chr7:26909194-26909205
2	E2F4	chr7:26908254-26908988	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr7:26908200-26909096	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627
4	FOS	chr7:26908208-26909095	MCF10A-Er-Src	breast:	n/a	chr7:26908619-26908626 chr7:26908458-26908472 chr7:26908618-26908626 chr7:26908614-26908625 chr7:26908618-26908627

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26908148-26908198	SKMC	muscle:	n/a
2	chr7:26908148-26908198	MCF-7	breast:	n/a
3	chr7:26908148-26908198	LNCaP	prostate:	n/a
4	chr7:26908148-26908198	T-47D	breast:	n/a
5	chr7:26908148-26908198	AG09319	gingival:	n/a
6	chr7:26908148-26908198	Hela-S3	cervix:	n/a
7	chr7:26908148-26908198	PrEC	prostate:	n/a
8	chr7:26908148-26908198	MCF10A-Er-Src	breast:	n/a
9	chr7:26908148-26908198	U87	brain:	n/a
10	chr7:26908148-26908198	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:26908148-26908198	SK-N-SH	brain:	n/a
12	chr7:26908148-26908198	NB4	blood:	n/a
13	chr7:26908148-26908198	HepG2	liver:	n/a
14	chr7:26908148-26908198	RPTEC	kidney:	n/a
15	chr7:26908148-26908198	SK-N-MC	brain:	n/a
16	chr7:26908148-26908198	HEEpiC	esophagus:	n/a
17	chr7:26908148-26908198	K562	blood:	n/a
18	chr7:26908148-26908198	HCF	heart:	n/a
19	chr7:26908148-26908198	HRE	kidney:	n/a
20	chr7:26908148-26908198	HAEpiC	amniotic membrane:	n/a
21	chr7:26908148-26908198	Caco-2	colon:	n/a
22	chr7:26908148-26908198	HMEC	breast:	n/a
23	chr7:26908148-26908198	NHDF-neo	bronchial:	n/a
24	chr7:26908148-26908198	HNPCEpiC	eye:	n/a
25	chr7:26908148-26908198	AoSMC	blood vessel:	n/a
26	chr7:26908148-26908198	GM12878	blood:	n/a
27	chr7:26908148-26908198	IMR90	lung:	fetal
28	chr7:26908148-26908198	AG04449	skin:	fetal
29	chr7:26908148-26908198	AG10803	skin:	n/a
30	chr7:26908148-26908198	GM12892	blood:	n/a
31	chr7:26908148-26908198	NHBE	bronchial:	n/a
32	chr7:26908148-26908198	SAEC	small airway:	n/a
33	chr7:26908148-26908198	HCPEpiC	choroid plexus:	n/a
34	chr7:26908148-26908198	HCT-116	colon:	n/a
35	chr7:26908148-26908198	CMK	blood:	n/a
36	chr7:26908148-26908198	ProgFib	skin:	n/a
37	chr7:26908148-26908198	HCM	heart:	n/a
38	chr7:26908148-26908198	AG04450	lung:	fetal
39	chr7:26908148-26908198	SK-N-SH_RA	brain:	n/a
40	chr7:26908148-26908198	GM19239	blood:	n/a
41	chr7:26908148-26908198	PANC-1	pancreas:	n/a
42	chr7:26908148-26908198	AG09309	skin:	n/a
43	chr7:26908148-26908198	GM06990	blood:	n/a
44	chr7:26908148-26908198	PFSK-1	brain:	n/a
45	chr7:26908148-26908198	Hepatocyte	liver:	n/a
46	chr7:26908148-26908198	HRCEpiC	kidney:	n/a
47	chr7:26908148-26908198	HL-60	blood:	n/a
48	chr7:26908148-26908198	A549	lung:	n/a
49	chr7:26908148-26908198	NT2-D1	testis:	n/a
50	chr7:26908148-26908198	H1-hESC	embryonic stem cell:	embryo

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26903581..26905887-chr7:26906835..26909614,2	MCF-7	breast:
2	chr7:26902484..26906060-chr7:26906980..26911277,7	MCF-7	breast:
3	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:

No data

Variant related genes	Relation type
SKAP2	TF binding region
SKAP2	CpG island
ENSG00000254369	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000197576	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536059629	chr7:26906379-26906380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34853704	chr7:26906406-26906407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189222403	chr7:26906455-26906456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560548637	chr7:26906458-26906459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140830908	chr7:26906478-26906479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547830794	chr7:26906543-26906544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191298075	chr7:26906575-26906576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553415405	chr7:26906590-26906591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556545425	chr7:26906591-26906592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183487922	chr7:26906736-26906737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576599475	chr7:26906780-26906781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373211279	chr7:26906859-26906860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs35456189	chr7:26906897-26906898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10271075	chr7:26906973-26906974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs70946235	chr7:26906991-26906992	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570231085	chr7:26907035-26907036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115985285	chr7:26907096-26907097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10271306	chr7:26907114-26907115	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2391362	chr7:26907123-26907124	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs369652839	chr7:26907160-26907161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188709457	chr7:26907171-26907172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2391363	chr7:26907172-26907173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs55671100	chr7:26907173-26907174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13224692	chr7:26907175-26907176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71532936	chr7:26907177-26907178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71532937	chr7:26907179-26907180	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2391364	chr7:26907189-26907190	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2391365	chr7:26907191-26907192	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2391366	chr7:26907195-26907196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201454639	chr7:26907197-26907198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs372900454	chr7:26907198-26907199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199513306	chr7:26907218-26907219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150990964	chr7:26907227-26907228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200686771	chr7:26907228-26907229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576446967	chr7:26907234-26907235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377512499	chr7:26907236-26907237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543719655	chr7:26907243-26907244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139560950	chr7:26907256-26907257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs6970098	chr7:26907257-26907258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563387075	chr7:26907260-26907261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6950029	chr7:26907275-26907276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572110430	chr7:26907276-26907277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6970106	chr7:26907277-26907278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532343687	chr7:26907278-26907279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551992274	chr7:26907285-26907286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34729371	chr7:26907288-26907289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186499557	chr7:26907370-26907371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58795228	chr7:26907371-26907372	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555254590	chr7:26907415-26907416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10231272	chr7:26907419-26907420	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26905000-26908000	Weak transcription	Hela-S3	cervix
2	chr7:26905000-26908200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:26905000-26908200	Weak transcription	HSMM	muscle
4	chr7:26905000-26908200	Weak transcription	HSMMtube	muscle
5	chr7:26905000-26908200	Weak transcription	NHDF-Ad	bronchial
6	chr7:26905000-26908400	Weak transcription	Osteobl	bone
7	chr7:26905200-26908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:26905200-26908200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:26905200-26908400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:26905200-26908400	Weak transcription	A549	lung
11	chr7:26905200-26908600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:26905400-26907800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:26905400-26908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:26905400-26908000	Weak transcription	HMEC	breast
15	chr7:26905400-26908000	Weak transcription	NHEK	skin
16	chr7:26905800-26908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:26907800-26908400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:26908000-26908600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:26908000-26908800	Enhancers	Hela-S3	cervix
20	chr7:26908000-26909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:26908000-26909400	Enhancers	HMEC	breast
22	chr7:26908000-26909400	Enhancers	NHEK	skin
23	chr7:26908200-26908600	Flanking Active TSS	HSMMtube	muscle
24	chr7:26908200-26908800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:26908200-26908800	Enhancers	NHDF-Ad	bronchial
26	chr7:26908200-26909200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:26908200-26909200	Enhancers	HSMM	muscle

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