Variant report

Variant	nsv5714
Chromosome Location	chr7:41026022-41059813
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:41042803..41043329-chr7:41744573..41745077,2	MCF-7	breast:
2	chr7:41042842..41044547-chr7:41046051..41047750,2	K562	blood:
3	chr7:41042842..41044547-chr7:41046051..41047750,2	K562	blood:
4	chr7:41050652..41052557-chr7:41053735..41055459,2	K562	blood:
5	chr7:41042725..41043251-chr7:41744801..41745465,3	MCF-7	breast:
6	chr7:41042367..41043212-chr7:41751122..41752034,4	MCF-7	breast:
7	chr7:41023501..41025536-chr7:41042480..41044856,2	MCF-7	breast:
8	chr7:41042789..41043384-chr7:41736136..41736648,2	K562	blood:
9	chr7:41050652..41052557-chr7:41053735..41055459,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236310	chromatin interactions

Extended variants
information (count: 1300 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1300 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564721957	chr7:41026068-41026069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542844147	chr7:41026112-41026113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114829977	chr7:41026126-41026127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191621081	chr7:41026178-41026179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543761520	chr7:41026198-41026199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144807503	chr7:41026211-41026212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183821339	chr7:41026213-41026214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147386172	chr7:41026293-41026294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560320992	chr7:41026384-41026385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12534371	chr7:41026417-41026418	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568620775	chr7:41026421-41026422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2214882	chr7:41026429-41026430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs567492409	chr7:41026539-41026540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556816538	chr7:41026626-41026627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59555466	chr7:41026640-41026641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139092503	chr7:41026651-41026652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571611746	chr7:41026677-41026678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538684952	chr7:41026729-41026730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554221205	chr7:41026743-41026744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114606372	chr7:41026753-41026754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375604277	chr7:41026770-41026771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs978197	chr7:41026808-41026809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74862885	chr7:41026818-41026819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557735065	chr7:41026859-41026860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188435554	chr7:41026868-41026869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114166910	chr7:41026873-41026874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559036832	chr7:41026877-41026878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1005313	chr7:41026883-41026884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528356109	chr7:41026918-41026919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573205195	chr7:41026951-41026952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577547474	chr7:41026984-41026985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544713183	chr7:41027003-41027004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560207480	chr7:41027027-41027028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117599209	chr7:41027078-41027079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375250119	chr7:41027080-41027081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542749209	chr7:41027145-41027146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180868687	chr7:41027210-41027211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531452149	chr7:41027218-41027219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550027436	chr7:41027245-41027246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17772037	chr7:41027253-41027254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs532450038	chr7:41027277-41027278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574554874	chr7:41027408-41027409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149889640	chr7:41027454-41027455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565737251	chr7:41027480-41027481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371474020	chr7:41027508-41027509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374986129	chr7:41027521-41027522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185655452	chr7:41027555-41027556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190584027	chr7:41027574-41027575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570230077	chr7:41027578-41027579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537277637	chr7:41027627-41027628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41011800-41042000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:41019200-41036200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:41020800-41034200	Weak transcription	Aorta	Aorta
4	chr7:41024200-41028200	Enhancers	Hela-S3	cervix
5	chr7:41024400-41027400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:41024800-41026800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:41024800-41027000	Enhancers	Osteobl	bone
8	chr7:41025000-41026400	Enhancers	Fetal Stomach	stomach
9	chr7:41025000-41026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:41025000-41026800	Enhancers	NHLF	lung
11	chr7:41025000-41027000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:41025200-41026400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:41025400-41026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:41025400-41027000	Enhancers	NHDF-Ad	bronchial
15	chr7:41025600-41026400	Enhancers	Fetal Kidney	kidney
16	chr7:41025600-41026600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:41026000-41026600	Enhancers	Liver	Liver
18	chr7:41026400-41026800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:41026400-41027600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:41026600-41029800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:41026600-41030000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:41027000-41030600	Weak transcription	Osteobl	bone
23	chr7:41027400-41028400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:41028400-41028600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:41029800-41031600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:41030000-41032000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:41030400-41030800	Enhancers	Adipose Nuclei	Adipose
28	chr7:41030600-41031000	Enhancers	Osteobl	bone
29	chr7:41031600-41036000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:41032000-41035600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:41034200-41037000	Enhancers	Aorta	Aorta
32	chr7:41035200-41037000	Enhancers	Fetal Muscle Leg	muscle
33	chr7:41035400-41037000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:41035400-41037600	Enhancers	Hela-S3	cervix
35	chr7:41035600-41036000	Enhancers	Fetal Brain Male	brain
36	chr7:41035600-41036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:41035600-41036400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:41035800-41036000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:41035800-41036400	Enhancers	Fetal Stomach	stomach
40	chr7:41035800-41036600	Enhancers	HSMM	muscle
41	chr7:41035800-41036800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:41035800-41037200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:41035800-41037200	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:41035800-41037200	Enhancers	HSMMtube	muscle
45	chr7:41036000-41036400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:41036000-41036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:41036000-41036800	Enhancers	Fetal Muscle Trunk	muscle
48	chr7:41036000-41038800	Weak transcription	Fetal Brain Male	brain
49	chr7:41036200-41036600	Enhancers	HMEC	breast
50	chr7:41036200-41036800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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