Variant report

Variant	esv3476705
Chromosome Location	chr7:124893294-124896811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183754555	chr7:124893296-124893297	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186162318	chr7:124893358-124893359	Genic enhancers Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574432421	chr7:124893429-124893430	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386717512	chr7:124893520-124893521	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116569346	chr7:124893522-124893523	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573322979	chr7:124893571-124893572	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547814508	chr7:124893594-124893595	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139321773	chr7:124893601-124893602	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575248991	chr7:124893623-124893624	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569156267	chr7:124893634-124893635	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1427579	chr7:124893698-124893699	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12706645	chr7:124893729-124893730	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552317051	chr7:124893732-124893733	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373498534	chr7:124893768-124893769	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202179248	chr7:124893781-124893782	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116296115	chr7:124893794-124893795	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17148052	chr7:124893851-124893852	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1427580	chr7:124893865-124893866	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs568701025	chr7:124893866-124893867	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535834262	chr7:124893885-124893886	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532159808	chr7:124893962-124893963	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552258046	chr7:124893968-124893969	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569012339	chr7:124894008-124894009	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531431246	chr7:124894119-124894120	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143667287	chr7:124894131-124894132	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568047985	chr7:124894166-124894167	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78889612	chr7:124894240-124894241	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369295408	chr7:124894241-124894242	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116167471	chr7:124894323-124894324	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553363591	chr7:124894325-124894326	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146734981	chr7:124894328-124894329	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567058266	chr7:124894356-124894357	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139648037	chr7:124894410-124894411	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574523981	chr7:124894411-124894412	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373704430	chr7:124894413-124894414	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538817966	chr7:124894414-124894415	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398111834	chr7:124894425-124894426	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533680169	chr7:124894449-124894450	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17148056	chr7:124894530-124894531	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146341336	chr7:124894572-124894573	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7810705	chr7:124894573-124894574	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201085086	chr7:124894600-124894601	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574711736	chr7:124894608-124894609	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540522447	chr7:124894646-124894647	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373501609	chr7:124894664-124894665	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576788757	chr7:124894692-124894693	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191589681	chr7:124894703-124894704	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532425888	chr7:124894724-124894725	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546066079	chr7:124894725-124894726	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17388921	chr7:124894734-124894735	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	20858243	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124885600-124894800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124887400-124898000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:124891000-124895600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:124892200-124893400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:124892400-124893400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:124892400-124896000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:124892600-124896000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:124892800-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:124892800-124894200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:124892800-124898000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:124893000-124893800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:124893000-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:124893000-124894000	Enhancers	HMEC	breast
14	chr7:124893200-124894000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:124893200-124895400	Enhancers	NHEK	skin
16	chr7:124893400-124893600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:124893400-124893800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:124893400-124893800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:124893400-124894200	Enhancers	Fetal Heart	heart
20	chr7:124893600-124893800	Enhancers	Pancreas	Pancrea
21	chr7:124893600-124894000	Enhancers	Fetal Lung	lung
22	chr7:124893600-124895000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:124893800-124894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:124893800-124894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr7:124893800-124894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:124894000-124894400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:124894000-124894400	Weak transcription	HMEC	breast
28	chr7:124894000-124895000	Weak transcription	Fetal Lung	lung
29	chr7:124894200-124894400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr7:124894200-124895200	Weak transcription	Fetal Heart	heart
31	chr7:124894200-124895600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:124894400-124895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:124894400-124895000	Enhancers	HMEC	breast
34	chr7:124894400-124895200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:124894800-124895400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:124894800-124896200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
37	chr7:124894800-124896200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:124895000-124896200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:124895000-124897600	Enhancers	Fetal Lung	lung
40	chr7:124895000-124897800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:124895200-124895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:124895200-124898800	Enhancers	Fetal Heart	heart
43	chr7:124895400-124895600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:124895400-124895800	Weak transcription	NHEK	skin
45	chr7:124895600-124895800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr7:124895600-124896000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:124895600-124896000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:124895600-124896400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:124895600-124896800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:124895600-124897400	Enhancers	Cortex derived primary cultured neurospheres	brain

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