Variant report

Variant	esv1010924
Chromosome Location	chr7:124332742-124343399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 375 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552971721	chr7:124332822-124332823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572879462	chr7:124332838-124332839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545130387	chr7:124332853-124332854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543351177	chr7:124332868-124332869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565371076	chr7:124332887-124332888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530061823	chr7:124332919-124332920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530665176	chr7:124332956-124332957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542174323	chr7:124332970-124332971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7808146	chr7:124332986-124332987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560878846	chr7:124333019-124333020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530035675	chr7:124333030-124333031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546891128	chr7:124333071-124333072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76157203	chr7:124333094-124333095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532130935	chr7:124333103-124333104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73221472	chr7:124333113-124333114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116282333	chr7:124333143-124333144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146351882	chr7:124333152-124333153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115579721	chr7:124333171-124333172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181888183	chr7:124333212-124333213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185008765	chr7:124333266-124333267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536575194	chr7:124333272-124333273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528658420	chr7:124333302-124333303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs118131359	chr7:124333361-124333362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550720718	chr7:124333394-124333395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190297028	chr7:124333409-124333410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149783307	chr7:124333415-124333416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7785537	chr7:124333429-124333430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs376823420	chr7:124333444-124333445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368963360	chr7:124333472-124333473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575703245	chr7:124333614-124333615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544345382	chr7:124333617-124333618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565460296	chr7:124333640-124333641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561162076	chr7:124333689-124333690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139716400	chr7:124333760-124333761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1524769	chr7:124333793-124333794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs386717472	chr7:124333796-124333797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181171712	chr7:124333797-124333798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552157868	chr7:124333830-124333831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562308277	chr7:124333849-124333850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141658079	chr7:124333854-124333855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554525738	chr7:124333914-124333915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560951655	chr7:124333958-124333959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567553318	chr7:124334002-124334003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186419532	chr7:124334008-124334009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546937548	chr7:124334028-124334029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116051232	chr7:124334044-124334045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538924363	chr7:124334061-124334062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371381513	chr7:124334087-124334088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558926508	chr7:124334233-124334234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373143173	chr7:124334251-124334252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124329000-124340800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:124332200-124333400	Enhancers	Adipose Nuclei	Adipose
3	chr7:124332200-124335200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:124332400-124333000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:124332400-124333400	Enhancers	Fetal Lung	lung
6	chr7:124332600-124333200	Enhancers	Fetal Heart	heart
7	chr7:124332800-124333200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:124333400-124336000	Weak transcription	Fetal Lung	lung
9	chr7:124336000-124337200	Enhancers	Fetal Lung	lung
10	chr7:124336600-124337000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:124336800-124337000	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:124336800-124337000	Enhancers	Brain Hippocampus Middle	brain
13	chr7:124337000-124337200	Enhancers	Psoas Muscle	Psoas
14	chr7:124337000-124342800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:124337200-124343000	Weak transcription	Psoas Muscle	Psoas
16	chr7:124339000-124339400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:124339000-124339400	Enhancers	Brain Hippocampus Middle	brain
18	chr7:124339400-124340800	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:124340000-124340600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:124340400-124341400	Enhancers	NHEK	skin
21	chr7:124340600-124341000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:124340800-124341000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:124340800-124341000	Enhancers	HMEC	breast
24	chr7:124340800-124341200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:124340800-124341600	Enhancers	Brain Substantia Nigra	brain
26	chr7:124340800-124341800	Enhancers	Hela-S3	cervix
27	chr7:124340800-124343000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:124340800-124343600	Enhancers	Brain Hippocampus Middle	brain
29	chr7:124341000-124341600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:124341000-124342600	Weak transcription	HMEC	breast
31	chr7:124341000-124343400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:124341200-124342400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:124341400-124342600	Weak transcription	NHEK	skin
34	chr7:124341600-124341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:124341600-124342600	Weak transcription	Brain Substantia Nigra	brain
36	chr7:124341600-124343000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:124341800-124342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:124342000-124343400	Enhancers	Brain Anterior Caudate	brain
39	chr7:124342600-124342800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:124342600-124342800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr7:124342600-124343000	Enhancers	NHEK	skin
42	chr7:124342600-124343400	Enhancers	Aorta	Aorta
43	chr7:124342600-124343400	Enhancers	HMEC	breast
44	chr7:124342600-124343800	Enhancers	Brain Substantia Nigra	brain
45	chr7:124342800-124343200	Enhancers	Brain Cingulate Gyrus	brain
46	chr7:124342800-124343400	Enhancers	Brain Angular Gyrus	brain
47	chr7:124342800-124343400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:124343200-124343400	Enhancers	Psoas Muscle	Psoas

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