Variant report

Variant	esv1005081
Chromosome Location	chr7:116618938-116626233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116595788..116597544-chr7:116616683..116619041,2	K562	blood:
2	chr7:116619639..116622384-chr7:116623260..116627273,4	K562	blood:
3	chr7:116617343..116619582-chr7:116622869..116626558,3	K562	blood:
4	chr7:116612736..116614667-chr7:116618659..116620509,2	MCF-7	breast:
5	7:115847372-115857098..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
6	chr7:116622535..116624065-chr7:116762723..116764225,2	MCF-7	breast:
7	chr7:116591116..116596210-chr7:116619506..116625274,6	K562	blood:
8	chr7:116625837..116627797-chr7:116629420..116631702,2	K562	blood:
9	chr7:116619639..116622384-chr7:116623260..116627273,4	K562	blood:
10	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
11	chr7:116624619..116625668-chr7:116759102..116760110,6	K562	blood:
12	7:116610596-116619447..7:117114628-117119361	H1-hESC	embryonic stem cell:	embryo
13	chr7:116617343..116619582-chr7:116622869..116626558,3	K562	blood:
14	chr7:116614047..116614930-chr7:116624578..116625102,2	K562	blood:
15	7:116619447-116625476..7:116754962-116765597	GM12878	blood:
16	chr7:116625013..116625560-chr7:116759356..116760152,3	MCF-7	breast:
17	chr7:116626224..116628815-chr7:116757682..116760230,2	MCF-7	breast:
18	7:115890993-115892266..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
19	chr7:116625923..116629048-chr7:116633177..116636894,3	K562	blood:
20	7:116625476-116630972..7:116754962-116765597	GM12878	blood:
21	7:115861595-115870968..7:116610596-116619447	GM12878	blood:
22	chr7:116623825..116626590-chr7:116627762..116629285,2	K562	blood:
23	chr7:116589813..116597334-chr7:116621638..116628770,10	K562	blood:
24	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
25	7:115847372-115857098..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
26	chr7:116615230..116617091-chr7:116619480..116621250,2	K562	blood:
27	chr7:116616956..116618843-chr7:116623491..116625617,2	K562	blood:
28	chr7:116624601..116625585-chr7:116759195..116760106,9	MCF-7	breast:
29	chr7:116608803..116612859-chr7:116615821..116619025,5	K562	blood:
30	chr7:116592630..116594901-chr7:116625856..116628693,3	MCF-7	breast:
31	7:116604327-116608063..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
32	7:116610596-116619447..7:117432820-117434816	H1-hESC	embryonic stem cell:	embryo
33	chr7:116569834..116572713-chr7:116615771..116619319,3	MCF-7	breast:
34	7:115847372-115857098..7:116625476-116630972	H1-hESC	embryonic stem cell:	embryo
35	7:116610596-116619447..7:116849860-116864942	H1-hESC	embryonic stem cell:	embryo
36	7:115929516-115931284..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo
37	7:116619447-116625476..7:116728195-116740907	K562	blood:
38	7:116610596-116619447..7:116651084-116657331	H1-hESC	embryonic stem cell:	embryo
39	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
40	chr7:116624725..116627030-chr7:116763333..116766148,3	K562	blood:
41	chr7:116622424..116624460-chr7:116654267..116655825,2	K562	blood:
42	7:115861595-115870968..7:116619447-116625476	Hela-S3	cervix:
43	7:116610596-116619447..7:116754962-116765597	GM12878	blood:
44	7:116434729-116454408..7:116619447-116625476	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000198898	chromatin interactions
ENSG00000001626	chromatin interactions
ENSG00000004866	chromatin interactions
ENSG00000213050	chromatin interactions
ENSG00000135269	chromatin interactions
ENSG00000105971	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000226367	chromatin interactions
ENSG00000227199	chromatin interactions
ENSG00000228368	chromatin interactions
ENSG00000077063	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62470791	chr7:116618997-116618998	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576491054	chr7:116619066-116619067	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs531150720	chr7:116619082-116619083	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs549567643	chr7:116619147-116619148	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs532312740	chr7:116619148-116619149	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs188066328	chr7:116619156-116619157	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs572617004	chr7:116619158-116619159	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs568779676	chr7:116619177-116619178	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs529778920	chr7:116619215-116619216	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs569744933	chr7:116619245-116619246	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs34496623	chr7:116619247-116619248	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs74866516	chr7:116619250-116619251	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs530137715	chr7:116619383-116619384	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs567837314	chr7:116619393-116619394	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs555387206	chr7:116619435-116619436	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs61496700	chr7:116619603-116619604	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192967981	chr7:116619618-116619619	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs571864240	chr7:116619628-116619629	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs76670283	chr7:116619633-116619634	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs372508493	chr7:116619650-116619651	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs373973125	chr7:116619695-116619696	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs575586316	chr7:116619756-116619757	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs542692878	chr7:116619766-116619767	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs6951094	chr7:116619774-116619775	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572694780	chr7:116619783-116619784	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs539996579	chr7:116619797-116619798	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs542365415	chr7:116619809-116619810	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs534633601	chr7:116619819-116619820	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs142221057	chr7:116619831-116619832	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs562489232	chr7:116619849-116619850	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs532783157	chr7:116619854-116619855	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs529740937	chr7:116619886-116619887	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs541731519	chr7:116619896-116619897	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs548301958	chr7:116619897-116619898	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs370797157	chr7:116619899-116619900	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs73472900	chr7:116619922-116619923	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs547143917	chr7:116619942-116619943	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs376420976	chr7:116619995-116619996	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs370918537	chr7:116620001-116620002	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs73210122	chr7:116620005-116620006	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs374408970	chr7:116620006-116620007	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs369088385	chr7:116620010-116620011	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs368061838	chr7:116620013-116620014	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs71148354	chr7:116620029-116620030	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs182916144	chr7:116620036-116620037	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs10272848	chr7:116620052-116620053	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs375195151	chr7:116620075-116620076	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs539306240	chr7:116620076-116620077	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs551022286	chr7:116620098-116620099	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs6951632	chr7:116620103-116620104	Weak transcription Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116595200-116621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116596400-116622200	Weak transcription	Fetal Intestine Large	intestine
3	chr7:116597000-116641600	Weak transcription	Ovary	ovary
4	chr7:116598800-116630400	Weak transcription	Aorta	Aorta
5	chr7:116600600-116620200	Weak transcription	Lung	lung
6	chr7:116607600-116622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:116607600-116632400	Weak transcription	Gastric	stomach
8	chr7:116609000-116627400	Weak transcription	Placenta	Placenta
9	chr7:116610600-116638800	Weak transcription	Hela-S3	cervix
10	chr7:116610800-116626800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:116611000-116619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:116611000-116621400	Weak transcription	Fetal Heart	heart
13	chr7:116612000-116632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:116612200-116623400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:116612200-116628800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr7:116612800-116623600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:116613000-116623400	Weak transcription	Left Ventricle	heart
18	chr7:116613600-116635600	Weak transcription	Pancreas	Pancrea
19	chr7:116613600-116647000	Weak transcription	Right Atrium	heart
20	chr7:116615200-116621600	Weak transcription	GM12878-XiMat	blood
21	chr7:116615600-116619200	Weak transcription	Fetal Intestine Small	intestine
22	chr7:116617000-116626600	Weak transcription	NHLF	lung
23	chr7:116617200-116619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:116617400-116619400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:116617400-116619600	Enhancers	K562	blood
26	chr7:116617600-116619200	Weak transcription	NHEK	skin
27	chr7:116617600-116619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:116617600-116619400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:116617600-116619400	Weak transcription	Osteobl	bone
30	chr7:116617600-116622000	Weak transcription	HMEC	breast
31	chr7:116617600-116626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:116618200-116619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:116618200-116619000	Weak transcription	HSMMtube	muscle
34	chr7:116618200-116620000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:116618200-116623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:116618400-116626200	Weak transcription	NHDF-Ad	bronchial
37	chr7:116618600-116619000	Weak transcription	NH-A	brain
38	chr7:116618800-116619800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:116619000-116619200	Enhancers	HSMMtube	muscle
40	chr7:116619000-116619200	Enhancers	NH-A	brain
41	chr7:116619000-116620400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:116619200-116619600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:116619200-116619800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:116619200-116620200	Enhancers	NHEK	skin
45	chr7:116619400-116619600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:116619400-116619600	Enhancers	Osteobl	bone
47	chr7:116619400-116619800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:116619400-116619800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:116619400-116619800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:116619400-116620800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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