Variant report

Variant	esv1802433
Chromosome Location	chr7:124365503-124385252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:124376201..124377802-chr7:124397485..124399571,2	K562	blood:
2	chr7:124362878..124364678-chr7:124368267..124370002,2	MCF-7	breast:
3	chr7:124384410..124386262-chr7:124390545..124393213,2	MCF-7	breast:
4	chr7:124383488..124385926-chr7:124387592..124389109,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR37-1	chr7:124382366-124384470	NONHSAT123084

Extended variants
information (count: 880 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:880 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12706619	chr7:124365503-124365504	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527445578	chr7:124365520-124365521	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140800601	chr7:124365534-124365535	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564354938	chr7:124365552-124365553	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115508399	chr7:124365680-124365681	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs540652290	chr7:124365681-124365682	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184990022	chr7:124365698-124365699	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551813986	chr7:124365729-124365730	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34079369	chr7:124365769-124365770	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528914823	chr7:124365770-124365771	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375732393	chr7:124365777-124365778	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs187543751	chr7:124365804-124365805	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs146570312	chr7:124365859-124365860	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560274975	chr7:124365868-124365869	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573110153	chr7:124365986-124365987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191664126	chr7:124366150-124366151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538610505	chr7:124366163-124366164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534343319	chr7:124366174-124366175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12535531	chr7:124366188-124366189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143199340	chr7:124366196-124366197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539528549	chr7:124366215-124366216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556641888	chr7:124366221-124366222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115040498	chr7:124366249-124366250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184080013	chr7:124366290-124366291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565081610	chr7:124366291-124366292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188809945	chr7:124366296-124366297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180820135	chr7:124366297-124366298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150877609	chr7:124366321-124366322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17147389	chr7:124366328-124366329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs114077399	chr7:124366362-124366363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533178395	chr7:124366377-124366378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550790808	chr7:124366394-124366395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560993455	chr7:124366424-124366425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151146600	chr7:124366432-124366433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184666724	chr7:124366450-124366451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190191158	chr7:124366463-124366464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528853243	chr7:124366496-124366497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7800504	chr7:124366522-124366523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140369971	chr7:124366534-124366535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527979988	chr7:124366552-124366553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182422196	chr7:124366570-124366571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554748712	chr7:124366586-124366587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73443814	chr7:124366614-124366615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185719810	chr7:124366627-124366628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569820312	chr7:124366655-124366656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376233685	chr7:124366685-124366686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17147392	chr7:124366727-124366728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138012369	chr7:124366811-124366812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114029439	chr7:124366812-124366813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190576537	chr7:124366816-124366817	Weak transcription Enhancers	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124363200-124365600	Enhancers	HepG2	liver
2	chr7:124363800-124368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:124364200-124365600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:124364200-124365800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:124364200-124365800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:124364200-124366000	Active TSS	Brain Hippocampus Middle	brain
7	chr7:124364400-124365800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:124364400-124366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr7:124364600-124365600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:124364800-124369600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:124365000-124365600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:124365000-124365800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:124365200-124365600	Active TSS	Brain Anterior Caudate	brain
14	chr7:124365200-124365800	Active TSS	Brain Angular Gyrus	brain
15	chr7:124365400-124365800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:124365400-124365800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:124365400-124365800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:124365400-124366000	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:124365400-124370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:124365600-124365800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:124365600-124365800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:124365600-124367400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:124365600-124368600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:124365800-124366000	Active TSS	Brain Anterior Caudate	brain
25	chr7:124365800-124366000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:124365800-124366400	Weak transcription	Brain Angular Gyrus	brain
27	chr7:124365800-124369200	Enhancers	Brain Substantia Nigra	brain
28	chr7:124365800-124370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:124366000-124366600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:124366000-124366600	Weak transcription	Brain Hippocampus Middle	brain
31	chr7:124366000-124368200	Enhancers	Brain Anterior Caudate	brain
32	chr7:124366000-124368800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:124366000-124369000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:124366400-124368000	Enhancers	Brain Angular Gyrus	brain
35	chr7:124366600-124366800	Enhancers	Brain Hippocampus Middle	brain
36	chr7:124366600-124369200	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:124366800-124367200	Weak transcription	Brain Hippocampus Middle	brain
38	chr7:124367200-124368000	Enhancers	Brain Hippocampus Middle	brain
39	chr7:124367400-124369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:124368000-124368400	Weak transcription	Brain Angular Gyrus	brain
41	chr7:124368000-124368400	Weak transcription	Brain Hippocampus Middle	brain
42	chr7:124368200-124368600	Weak transcription	Brain Anterior Caudate	brain
43	chr7:124368400-124369000	Enhancers	Brain Hippocampus Middle	brain
44	chr7:124368400-124369200	Enhancers	Brain Angular Gyrus	brain
45	chr7:124368600-124369000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr7:124368600-124369200	Enhancers	Brain Anterior Caudate	brain
47	chr7:124368800-124369000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:124368800-124369200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:124368800-124369200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:124368800-124369400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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