Variant report

Variant	esv15186
Chromosome Location	chr7:87668826-87672870
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	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569629604	chr7:87668830-87668831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186455987	chr7:87668842-87668843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370814946	chr7:87668847-87668848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75654517	chr7:87668876-87668877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535983636	chr7:87668926-87668927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs5885609	chr7:87668927-87668928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3831542	chr7:87668942-87668943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397697496	chr7:87668943-87668944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370483927	chr7:87668944-87668945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554313883	chr7:87668962-87668963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2024019	chr7:87669005-87669006	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142553854	chr7:87669006-87669007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558351764	chr7:87669083-87669084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527463513	chr7:87669085-87669086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368688301	chr7:87669090-87669091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28421154	chr7:87669132-87669133	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552870780	chr7:87669145-87669146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528873234	chr7:87669192-87669193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28430889	chr7:87669198-87669199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139354873	chr7:87669212-87669213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532828388	chr7:87669264-87669265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141574951	chr7:87669291-87669292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545705065	chr7:87669331-87669332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189692803	chr7:87669342-87669343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530880908	chr7:87669355-87669356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548994489	chr7:87669425-87669426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571229412	chr7:87669441-87669442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561864153	chr7:87669442-87669443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564000582	chr7:87669452-87669453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567508477	chr7:87669474-87669475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182544846	chr7:87669534-87669535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535483325	chr7:87669667-87669668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554178826	chr7:87669673-87669674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566195715	chr7:87669713-87669714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539926964	chr7:87669727-87669728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558420708	chr7:87669740-87669741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150414197	chr7:87669768-87669769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544136714	chr7:87669814-87669815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138139168	chr7:87669833-87669834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201284139	chr7:87669857-87669858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531602192	chr7:87669862-87669863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533470759	chr7:87669911-87669912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549646345	chr7:87669912-87669913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74273127	chr7:87669919-87669920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574229140	chr7:87669954-87669955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540647836	chr7:87669956-87669957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368041985	chr7:87670004-87670005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558907494	chr7:87670006-87670007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577344820	chr7:87670132-87670133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28686775	chr7:87670139-87670140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87663000-87671200	Weak transcription	Dnd41	blood
2	chr7:87669000-87671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:87669200-87669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:87669400-87670400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:87669600-87670000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87669800-87670600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:87670000-87670200	Enhancers	Adipose Nuclei	Adipose
8	chr7:87670000-87670400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:87670000-87670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:87670000-87672000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:87670200-87671600	Weak transcription	Adipose Nuclei	Adipose
12	chr7:87670600-87675000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:87671000-87671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:87671000-87671800	Enhancers	Brain Angular Gyrus	brain
15	chr7:87671200-87672000	Enhancers	Dnd41	blood
16	chr7:87671400-87671600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:87671400-87671800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:87671400-87672000	Active TSS	GM12878-XiMat	blood
19	chr7:87671400-87672200	Enhancers	Brain Hippocampus Middle	brain
20	chr7:87671400-87674800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:87671600-87672000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:87671600-87672200	Enhancers	Adipose Nuclei	Adipose
23	chr7:87671600-87672200	Enhancers	Brain Anterior Caudate	brain
24	chr7:87671800-87672000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:87671800-87672000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:87671800-87675000	Weak transcription	Brain Angular Gyrus	brain
27	chr7:87672000-87672200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:87672000-87672200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:87672000-87672200	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:87672000-87674800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:87672200-87672400	Enhancers	GM12878-XiMat	blood
32	chr7:87672200-87674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:87672200-87674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:87672200-87674800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:87672200-87674800	Weak transcription	Brain Anterior Caudate	brain
36	chr7:87672200-87674800	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:87672400-87674800	Weak transcription	GM12878-XiMat	blood

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