Variant report

Variant	nsv516761
Chromosome Location	chr7:116888161-116892846
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	chr7:116892070..116894682-chr7:116895120..116898583,3	K562	blood:
2	chr7:116868712..116871386-chr7:116885691..116888602,2	K562	blood:
3	7:115890993-115892266..7:116891553-116894301	H1-hESC	embryonic stem cell:	embryo
4	chr7:116881906..116884603-chr7:116886279..116888182,2	K562	blood:
5	chr7:116696376..116698519-chr7:116888439..116890411,2	K562	blood:

Variant related genes	Relation type
ENSG00000135269	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13226446	chr7:116888161-116888162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536205903	chr7:116888239-116888240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540293451	chr7:116888243-116888244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554664519	chr7:116888245-116888246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572967376	chr7:116888250-116888251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540312493	chr7:116888312-116888313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141883504	chr7:116888336-116888337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576962778	chr7:116888369-116888370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556936983	chr7:116888387-116888388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150223053	chr7:116888408-116888409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568745141	chr7:116888423-116888424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76682823	chr7:116888435-116888436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529713513	chr7:116888528-116888529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144260125	chr7:116888546-116888547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371719112	chr7:116888547-116888548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200416329	chr7:116888553-116888554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529166744	chr7:116888601-116888602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541821274	chr7:116888622-116888623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117796332	chr7:116888646-116888647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560307104	chr7:116888651-116888652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527419717	chr7:116888652-116888653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185696522	chr7:116888685-116888686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539448738	chr7:116888719-116888720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73211959	chr7:116888766-116888767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs190107256	chr7:116888767-116888768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201484532	chr7:116888793-116888794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551001884	chr7:116888795-116888796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375444141	chr7:116888797-116888798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138862350	chr7:116888817-116888818	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536262706	chr7:116888842-116888843	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554576541	chr7:116888849-116888850	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566505379	chr7:116888862-116888863	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534072423	chr7:116888892-116888893	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149406841	chr7:116888899-116888900	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576971510	chr7:116888953-116888954	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544344728	chr7:116888966-116888967	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181189058	chr7:116888992-116888993	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556209147	chr7:116889040-116889041	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55742981	chr7:116889042-116889043	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574753786	chr7:116889046-116889047	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147520958	chr7:116889057-116889058	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560221847	chr7:116889059-116889060	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186113104	chr7:116889092-116889093	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113281177	chr7:116889148-116889149	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539942414	chr7:116889233-116889234	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs548537392	chr7:116889261-116889262	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545622633	chr7:116889263-116889264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs564168327	chr7:116889405-116889406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs739693	chr7:116889414-116889415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs551963517	chr7:116889442-116889443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116887000-116888200	Enhancers	GM12878-XiMat	blood
2	chr7:116887400-116889200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:116887600-116889200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:116888000-116890200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:116888000-116892400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:116888200-116888400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:116888200-116889400	Weak transcription	GM12878-XiMat	blood
8	chr7:116888600-116888800	Enhancers	Brain Anterior Caudate	brain
9	chr7:116888600-116888800	Enhancers	Brain Hippocampus Middle	brain
10	chr7:116888600-116888800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr7:116888600-116889200	Enhancers	Brain Substantia Nigra	brain
12	chr7:116888600-116889600	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:116888600-116889800	Enhancers	NHLF	lung
14	chr7:116888800-116889000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr7:116888800-116889000	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr7:116888800-116889200	Enhancers	Brain Angular Gyrus	brain
17	chr7:116888800-116889200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:116888800-116889200	Enhancers	Fetal Lung	lung
19	chr7:116888800-116889600	Enhancers	Placenta	Placenta
20	chr7:116888800-116890200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:116888800-116891200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:116888800-116892600	Enhancers	NHDF-Ad	bronchial
23	chr7:116888800-116892600	Enhancers	Osteobl	bone
24	chr7:116889000-116889200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:116889000-116889200	Active TSS	Brain Anterior Caudate	brain
26	chr7:116889000-116889200	Active TSS	Brain Hippocampus Middle	brain
27	chr7:116889000-116889200	Enhancers	HSMM	muscle
28	chr7:116889000-116889600	Enhancers	Fetal Stomach	stomach
29	chr7:116889200-116889400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr7:116889200-116889600	Enhancers	Brain Anterior Caudate	brain
31	chr7:116889200-116890800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:116889400-116889600	Enhancers	Brain Hippocampus Middle	brain
33	chr7:116889400-116890600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:116889400-116892600	Enhancers	GM12878-XiMat	blood
35	chr7:116889600-116890600	Weak transcription	Placenta	Placenta
36	chr7:116889800-116891000	Weak transcription	NHLF	lung
37	chr7:116889800-116892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:116890200-116890400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:116890200-116891200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:116890400-116890800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:116890600-116892400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:116890600-116892600	Enhancers	Placenta	Placenta
43	chr7:116890600-116892600	Enhancers	HSMMtube	muscle
44	chr7:116890600-116892600	Enhancers	NH-A	brain
45	chr7:116890800-116891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:116890800-116892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:116890800-116892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:116890800-116892600	Enhancers	HSMM	muscle
49	chr7:116891000-116892200	Enhancers	NHLF	lung
50	chr7:116891200-116891600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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