Variant report

Variant	nsv538822
Chromosome Location	chr7:40508179-40546833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:40271945..40272762-chr7:40522914..40523878,2	MCF-7	breast:
2	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
3	chr7:40542350..40544621-chr7:40545682..40548549,2	K562	blood:
4	chr7:40498722..40501081-chr7:40509023..40511956,2	K562	blood:
5	chr7:40529348..40529994-chr7:40644364..40645119,2	MCF-7	breast:
6	chr7:40546524..40547688-chr7:40644081..40645084,3	MCF-7	breast:

Extended variants
information (count: 1132 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1132 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112568864	chr7:40508285-40508286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6958651	chr7:40508308-40508309	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192297656	chr7:40508323-40508324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184839553	chr7:40508331-40508332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550339127	chr7:40508391-40508392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373661632	chr7:40508403-40508404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561751320	chr7:40508408-40508409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570085267	chr7:40508495-40508496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375827900	chr7:40508498-40508499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535433994	chr7:40508581-40508582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139085367	chr7:40508606-40508607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549038134	chr7:40508622-40508623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189254217	chr7:40508654-40508655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534656743	chr7:40508656-40508657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181618151	chr7:40508659-40508660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571517170	chr7:40508663-40508664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573671421	chr7:40508694-40508695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369295383	chr7:40508700-40508701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79607267	chr7:40508708-40508709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557106754	chr7:40508769-40508770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573685463	chr7:40508791-40508792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112045278	chr7:40508898-40508899	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558193188	chr7:40508906-40508907	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375753207	chr7:40508952-40508953	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572887099	chr7:40508976-40508977	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145931833	chr7:40508978-40508979	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564665746	chr7:40508990-40508991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533659891	chr7:40509028-40509029	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368380398	chr7:40509094-40509095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200503306	chr7:40509103-40509104	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112311714	chr7:40509104-40509105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17433681	chr7:40509118-40509119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs80053464	chr7:40509121-40509122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs111953319	chr7:40509169-40509170	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs375657630	chr7:40509175-40509176	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559372312	chr7:40509181-40509182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189631103	chr7:40509223-40509224	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs16880235	chr7:40509298-40509299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78690896	chr7:40509320-40509321	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549307324	chr7:40509323-40509324	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs397744913	chr7:40509330-40509331	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140929059	chr7:40509331-40509332	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551354582	chr7:40509333-40509334	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181109509	chr7:40509374-40509375	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374571836	chr7:40509378-40509379	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537332855	chr7:40509452-40509453	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550575997	chr7:40509455-40509456	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567470359	chr7:40509480-40509481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186344337	chr7:40509484-40509485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564963596	chr7:40509570-40509571	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40502800-40508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:40503400-40508200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:40503400-40508400	Weak transcription	NHLF	lung
4	chr7:40503600-40508400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:40503600-40508800	Weak transcription	Aorta	Aorta
6	chr7:40507400-40508800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:40507600-40508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:40507600-40508800	Enhancers	Osteobl	bone
9	chr7:40507600-40509200	Weak transcription	Fetal Lung	lung
10	chr7:40507600-40510400	Enhancers	NHDF-Ad	bronchial
11	chr7:40507800-40509600	Enhancers	NH-A	brain
12	chr7:40508000-40510400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:40508200-40508400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:40508200-40508400	Enhancers	Colon Smooth Muscle	Colon
15	chr7:40508200-40509000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:40508200-40509400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:40508200-40510000	Enhancers	HepG2	liver
18	chr7:40508200-40510200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:40508400-40508600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:40508400-40509400	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:40508400-40509600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:40508400-40509800	Enhancers	NHLF	lung
23	chr7:40508400-40510200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:40508400-40510200	Enhancers	Fetal Stomach	stomach
25	chr7:40508400-40510200	Enhancers	HSMM	muscle
26	chr7:40508400-40510600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:40508600-40508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:40508600-40509600	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:40508800-40509200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:40508800-40509200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:40508800-40509200	Flanking Active TSS	Osteobl	bone
32	chr7:40508800-40509800	Enhancers	HSMMtube	muscle
33	chr7:40508800-40510200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:40508800-40510200	Enhancers	Aorta	Aorta
35	chr7:40508800-40510400	Enhancers	Fetal Kidney	kidney
36	chr7:40509000-40509400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:40509200-40509400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:40509200-40509400	Enhancers	Osteobl	bone
39	chr7:40509200-40509600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:40509200-40510200	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:40509200-40510400	Enhancers	Fetal Lung	lung
42	chr7:40509400-40509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:40509400-40510200	Enhancers	Colon Smooth Muscle	Colon
44	chr7:40509400-40510400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr7:40509400-40510600	Flanking Active TSS	Osteobl	bone
46	chr7:40509400-40510800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:40509600-40510000	Enhancers	Stomach Smooth Muscle	stomach
48	chr7:40509600-40510200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:40509600-40510200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:40509600-40510200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links