Variant report

Variant	esv13139
Chromosome Location	chr7:102348075-102365512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 242 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs139541738	chr7:102351800-102351801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563100881	chr7:102351831-102351832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4729851	chr7:102351847-102351848	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs551516044	chr7:102351882-102351883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28804149	chr7:102351939-102351940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117630529	chr7:102351971-102351972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149837920	chr7:102351972-102351973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548922364	chr7:102351988-102351989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567142536	chr7:102352020-102352021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3095386	chr7:102352021-102352022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368467643	chr7:102352022-102352023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538186338	chr7:102352036-102352037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185160397	chr7:102352047-102352048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571145428	chr7:102352057-102352058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538414539	chr7:102352091-102352092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115841337	chr7:102352096-102352097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10349391	chr7:102352104-102352105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs201153853	chr7:102352155-102352156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4729852	chr7:102352179-102352180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555775915	chr7:102352184-102352185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573926710	chr7:102352276-102352277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544922229	chr7:102352368-102352369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2537382	chr7:102352420-102352421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71217104	chr7:102352428-102352429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2109990	chr7:102352467-102352468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs190753231	chr7:102352478-102352479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559350563	chr7:102352484-102352485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71217103	chr7:102352497-102352498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545570614	chr7:102352499-102352500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182040067	chr7:102352542-102352543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527421153	chr7:102352589-102352590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5016509	chr7:102352598-102352599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs28715957	chr7:102352629-102352630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs199864863	chr7:102352680-102352681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187258266	chr7:102352698-102352699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5016508	chr7:102352716-102352717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs188294615	chr7:102352766-102352767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200756959	chr7:102352783-102352784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375330633	chr7:102352816-102352817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530746309	chr7:102352823-102352824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538451461	chr7:102352827-102352828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553513552	chr7:102352845-102352846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369944822	chr7:102352873-102352874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567370182	chr7:102352900-102352901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs180701420	chr7:102352916-102352917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535911233	chr7:102352920-102352921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555560332	chr7:102352969-102352970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28509466	chr7:102353019-102353020	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs538213700	chr7:102353049-102353050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11407910	chr7:102353055-102353056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102351800-102352800	Enhancers	GM12878-XiMat	blood
2	chr7:102352800-102353200	Weak transcription	GM12878-XiMat	blood
3	chr7:102353200-102353400	Enhancers	GM12878-XiMat	blood
4	chr7:102353400-102353600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:102353400-102353800	Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr7:102353400-102354000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:102353400-102354000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr7:102353400-102354000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:102353400-102354000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:102353400-102354200	Enhancers	A549	lung
11	chr7:102353400-102354200	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:102353400-102355000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:102353400-102355200	Enhancers	HMEC	breast
14	chr7:102353400-102356600	Enhancers	NHEK	skin
15	chr7:102353600-102353800	Enhancers	NH-A	brain
16	chr7:102353600-102354000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:102353600-102354000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:102353600-102354000	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:102353600-102354000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:102353600-102354000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:102353600-102354000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:102353600-102354000	Enhancers	Gastric	stomach
23	chr7:102353600-102354200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:102353600-102354200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:102353600-102354200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr7:102353600-102354200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:102353600-102354200	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:102353600-102354200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:102353600-102354200	Enhancers	Hela-S3	cervix
30	chr7:102353600-102354200	Enhancers	HSMMtube	muscle
31	chr7:102353600-102354200	Bivalent Enhancer	HUVEC	blood vessel
32	chr7:102353600-102354200	Enhancers	K562	blood
33	chr7:102353600-102354200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:102353600-102354200	Enhancers	NHLF	lung
35	chr7:102353600-102354800	Enhancers	Osteobl	bone
36	chr7:102353600-102355200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:102353800-102354000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr7:102353800-102354200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:102353800-102354200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:102353800-102354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:102353800-102354200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:102353800-102354200	Enhancers	Stomach Smooth Muscle	stomach
43	chr7:102353800-102354200	Enhancers	HSMM	muscle
44	chr7:102353800-102354200	Flanking Active TSS	NH-A	brain
45	chr7:102353800-102355000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:102354000-102354800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:102354000-102355000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:102354000-102355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:102354000-102356000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:102354200-102354800	Enhancers	Monocytes-CD14+_RO01746	blood

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