Variant report

Variant	esv11912
Chromosome Location	chr7:39546315-39551777
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: 222 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs574373307	chr7:39546326-39546327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs202111863	chr7:39546371-39546372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200436981	chr7:39546375-39546376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111381508	chr7:39546385-39546386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578131002	chr7:39546406-39546407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553792662	chr7:39546408-39546409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573369677	chr7:39546476-39546477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs137934382	chr7:39546488-39546489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7778215	chr7:39546558-39546559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182424551	chr7:39546629-39546630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544492166	chr7:39546641-39546642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115624008	chr7:39546667-39546668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57897009	chr7:39546670-39546671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs201097919	chr7:39546684-39546685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56746691	chr7:39546688-39546689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201239969	chr7:39546692-39546693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59707580	chr7:39546695-39546696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10267009	chr7:39546696-39546697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57165209	chr7:39546699-39546700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528846817	chr7:39546700-39546701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560606550	chr7:39546703-39546704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200236920	chr7:39546704-39546705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552436659	chr7:39546707-39546708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569065789	chr7:39546709-39546710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60144935	chr7:39546711-39546712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548460694	chr7:39546712-39546713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567975892	chr7:39546713-39546714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139970836	chr7:39546715-39546716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370171702	chr7:39546719-39546720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576896672	chr7:39546723-39546724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61355784	chr7:39546727-39546728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs59338321	chr7:39546730-39546731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558764892	chr7:39546731-39546732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60310357	chr7:39546732-39546733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575428966	chr7:39546735-39546736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10267044	chr7:39546752-39546753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs57966856	chr7:39546753-39546754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56978807	chr7:39546754-39546755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57409821	chr7:39546768-39546769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs112802107	chr7:39546775-39546776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538270465	chr7:39546777-39546778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113705356	chr7:39546778-39546779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533068158	chr7:39546788-39546789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556260364	chr7:39546837-39546838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192163315	chr7:39546870-39546871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182859913	chr7:39546896-39546897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571814776	chr7:39546900-39546901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560272942	chr7:39546927-39546928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374343399	chr7:39546964-39546965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532695125	chr7:39546971-39546972	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39544400-39551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:39545000-39548800	Weak transcription	K562	blood
3	chr7:39545000-39549200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:39545800-39547400	Weak transcription	Dnd41	blood
5	chr7:39546000-39547000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:39546200-39546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:39546600-39547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:39547000-39549800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:39547000-39550000	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:39547400-39548600	Enhancers	Dnd41	blood
11	chr7:39547600-39547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:39547600-39548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:39547600-39548200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:39547600-39548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:39547600-39548200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:39547600-39548400	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:39547800-39548000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr7:39547800-39548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:39547800-39549800	Enhancers	Fetal Thymus	thymus
20	chr7:39548000-39548200	Enhancers	Thymus	Thymus
21	chr7:39548200-39548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:39548200-39549200	Weak transcription	Thymus	Thymus
23	chr7:39548600-39548800	Flanking Active TSS	Dnd41	blood
24	chr7:39548800-39549200	Enhancers	Dnd41	blood
25	chr7:39548800-39549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:39548800-39549800	Enhancers	K562	blood
27	chr7:39549000-39549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:39549000-39551000	Enhancers	NHEK	skin
29	chr7:39549000-39551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:39549200-39549600	Flanking Active TSS	Dnd41	blood
31	chr7:39549200-39549800	Enhancers	Thymus	Thymus
32	chr7:39549200-39550000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:39549200-39550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:39549200-39551400	Enhancers	HMEC	breast
35	chr7:39549400-39550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:39549600-39551000	Enhancers	Dnd41	blood
37	chr7:39549800-39550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:39549800-39551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:39550000-39550400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:39550000-39550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:39550000-39553600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:39550400-39550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:39550400-39551200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:39550400-39551400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:39550400-39551600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr7:39550600-39551200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:39550800-39551200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:39550800-39551200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:39551000-39551800	ZNF genes & repeats	Dnd41	blood
50	chr7:39551400-39553600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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