Variant report

Variant	esv1793020
Chromosome Location	chr7:39547573-39550347
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: 103 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6969739	chr7:39547573-39547574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184470711	chr7:39547580-39547581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117931701	chr7:39547603-39547604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10242030	chr7:39547661-39547662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138474180	chr7:39547689-39547690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561719773	chr7:39547704-39547705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6950256	chr7:39547715-39547716	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547373875	chr7:39547718-39547719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78187316	chr7:39547728-39547729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6970050	chr7:39547729-39547730	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532726774	chr7:39547800-39547801	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549481268	chr7:39547811-39547812	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560339082	chr7:39547902-39547903	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs569440464	chr7:39547939-39547940	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535161804	chr7:39547945-39547946	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555184940	chr7:39548001-39548002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143459164	chr7:39548013-39548014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11285319	chr7:39548040-39548041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534507603	chr7:39548055-39548056	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs10282121	chr7:39548060-39548061	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577322762	chr7:39548105-39548106	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs6946031	chr7:39548121-39548122	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs556577814	chr7:39548127-39548128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs576647923	chr7:39548145-39548146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6964238	chr7:39548161-39548162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561966985	chr7:39548172-39548173	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs116167000	chr7:39548219-39548220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538053303	chr7:39548293-39548294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189183804	chr7:39548333-39548334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564006272	chr7:39548351-39548352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532786655	chr7:39548432-39548433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550238543	chr7:39548445-39548446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115177334	chr7:39548460-39548461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73372748	chr7:39548482-39548483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10253125	chr7:39548520-39548521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568645552	chr7:39548549-39548550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372488319	chr7:39548566-39548567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554466723	chr7:39548578-39548579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571193563	chr7:39548579-39548580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540123947	chr7:39548631-39548632	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556638188	chr7:39548648-39548649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs576504370	chr7:39548657-39548658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs34406156	chr7:39548663-39548664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542312739	chr7:39548745-39548746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs555539587	chr7:39548794-39548795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572221425	chr7:39548826-39548827	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564968667	chr7:39548848-39548849	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192248738	chr7:39548851-39548852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs527678884	chr7:39548881-39548882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577556434	chr7:39548928-39548929	Weak transcription Enhancers Flanking Active TSS	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:38 , 50 per page) page: 1

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	chr7:39546600-39547800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:39547000-39549800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:39547000-39550000	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:39547400-39548600	Enhancers	Dnd41	blood
8	chr7:39547600-39547800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:39547600-39548000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:39547600-39548200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:39547600-39548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:39547600-39548200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:39547600-39548400	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:39547800-39548000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr7:39547800-39548200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:39547800-39549800	Enhancers	Fetal Thymus	thymus
17	chr7:39548000-39548200	Enhancers	Thymus	Thymus
18	chr7:39548200-39548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:39548200-39549200	Weak transcription	Thymus	Thymus
20	chr7:39548600-39548800	Flanking Active TSS	Dnd41	blood
21	chr7:39548800-39549200	Enhancers	Dnd41	blood
22	chr7:39548800-39549800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:39548800-39549800	Enhancers	K562	blood
24	chr7:39549000-39549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr7:39549000-39551000	Enhancers	NHEK	skin
26	chr7:39549000-39551200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:39549200-39549600	Flanking Active TSS	Dnd41	blood
28	chr7:39549200-39549800	Enhancers	Thymus	Thymus
29	chr7:39549200-39550000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:39549200-39550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:39549200-39551400	Enhancers	HMEC	breast
32	chr7:39549400-39550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:39549600-39551000	Enhancers	Dnd41	blood
34	chr7:39549800-39550400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:39549800-39551800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:39550000-39550400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:39550000-39550400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:39550000-39553600	Weak transcription	Primary hematopoietic stem cells	blood

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