Variant report

Variant	nsv606679
Chromosome Location	chr7:39544787-39551020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39538609..39540979-chr7:39546036..39547767,2	K562	blood:

Extended variants
information (count: 261 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6972153	chr7:39544787-39544788	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145350020	chr7:39544825-39544826	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs386712402	chr7:39544837-39544838	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs6971762	chr7:39544838-39544839	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553251735	chr7:39544883-39544884	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs151047759	chr7:39544913-39544914	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs545272491	chr7:39544937-39544938	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs6975950	chr7:39544941-39544942	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs71531199	chr7:39545023-39545024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35984240	chr7:39545024-39545025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs70996810	chr7:39545062-39545063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72332553	chr7:39545063-39545064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62453566	chr7:39545064-39545065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62453567	chr7:39545065-39545066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56368761	chr7:39545073-39545074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56044316	chr7:39545081-39545082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56116220	chr7:39545083-39545084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575307475	chr7:39545100-39545101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544333598	chr7:39545118-39545119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374624504	chr7:39545131-39545132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560932138	chr7:39545137-39545138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529533627	chr7:39545169-39545170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549341251	chr7:39545184-39545185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559883707	chr7:39545188-39545189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528825375	chr7:39545266-39545267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376191662	chr7:39545268-39545269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182886374	chr7:39545334-39545335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569124659	chr7:39545403-39545404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79054865	chr7:39545440-39545441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571313484	chr7:39545441-39545442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530770622	chr7:39545481-39545482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550673516	chr7:39545515-39545516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140941721	chr7:39545516-39545517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536727102	chr7:39545594-39545595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370825537	chr7:39545608-39545609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543591139	chr7:39545630-39545631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374753790	chr7:39545648-39545649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186034362	chr7:39545650-39545651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566649722	chr7:39545663-39545664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538603060	chr7:39545689-39545690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558850573	chr7:39545697-39545698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575327834	chr7:39545714-39545715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543147123	chr7:39545725-39545726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544200647	chr7:39545737-39545738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150259113	chr7:39545738-39545739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574621797	chr7:39545755-39545756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17171588	chr7:39545773-39545774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145877877	chr7:39545776-39545777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528641746	chr7:39545866-39545867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555488782	chr7:39545946-39545947	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
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
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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39544200-39546200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:39544400-39545000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:39544400-39545200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:39544400-39545200	Enhancers	Dnd41	blood
5	chr7:39544400-39551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:39544600-39545000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:39544600-39545000	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr7:39544800-39545000	Enhancers	K562	blood
9	chr7:39545000-39548800	Weak transcription	K562	blood
10	chr7:39545000-39549200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:39545200-39545600	Weak transcription	Dnd41	blood
12	chr7:39545600-39545800	Enhancers	Dnd41	blood
13	chr7:39545800-39546000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:39545800-39547400	Weak transcription	Dnd41	blood
15	chr7:39546000-39547000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:39546200-39546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:39546600-39547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:39547000-39549800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:39547000-39550000	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:39547400-39548600	Enhancers	Dnd41	blood
21	chr7:39547600-39547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:39547600-39548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:39547600-39548200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:39547600-39548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:39547600-39548200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr7:39547600-39548400	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:39547800-39548000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:39547800-39548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:39547800-39549800	Enhancers	Fetal Thymus	thymus
30	chr7:39548000-39548200	Enhancers	Thymus	Thymus
31	chr7:39548200-39548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:39548200-39549200	Weak transcription	Thymus	Thymus
33	chr7:39548600-39548800	Flanking Active TSS	Dnd41	blood
34	chr7:39548800-39549200	Enhancers	Dnd41	blood
35	chr7:39548800-39549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:39548800-39549800	Enhancers	K562	blood
37	chr7:39549000-39549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr7:39549000-39551000	Enhancers	NHEK	skin
39	chr7:39549000-39551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:39549200-39549600	Flanking Active TSS	Dnd41	blood
41	chr7:39549200-39549800	Enhancers	Thymus	Thymus
42	chr7:39549200-39550000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:39549200-39550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:39549200-39551400	Enhancers	HMEC	breast
45	chr7:39549400-39550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:39549600-39551000	Enhancers	Dnd41	blood
47	chr7:39549800-39550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:39549800-39551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:39550000-39550400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:39550000-39550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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