Variant report

Variant	nsv962461
Chromosome Location	chr18:7064534-7066665
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	chr18:7065125..7067558-chr18:7070044..7072257,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116598430	chr18:7064551-7064552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565063898	chr18:7064595-7064596	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs80110359	chr18:7064628-7064629	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373253644	chr18:7064652-7064653	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs377173807	chr18:7064662-7064663	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10502347	chr18:7064691-7064692	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs117565101	chr18:7064785-7064786	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs149769095	chr18:7064807-7064808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546691286	chr18:7064810-7064811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60570557	chr18:7064830-7064831	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528714583	chr18:7064856-7064857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555774671	chr18:7064865-7064866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181054130	chr18:7064894-7064895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8089093	chr18:7064945-7064946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185536171	chr18:7064961-7064962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556937975	chr18:7064972-7064973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538746491	chr18:7064973-7064974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567291950	chr18:7064985-7064986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376620589	chr18:7064997-7064998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536360760	chr18:7065006-7065007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140731780	chr18:7065034-7065035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578130084	chr18:7065056-7065057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182131867	chr18:7065059-7065060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372476945	chr18:7065060-7065061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578159842	chr18:7065076-7065077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540616458	chr18:7065089-7065090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187717928	chr18:7065102-7065103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560891268	chr18:7065103-7065104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575666965	chr18:7065194-7065195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529680613	chr18:7065250-7065251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35224545	chr18:7065252-7065253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377672888	chr18:7065253-7065254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192262165	chr18:7065322-7065323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8092979	chr18:7065323-7065324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs8091510	chr18:7065363-7065364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560895547	chr18:7065392-7065393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551691062	chr18:7065470-7065471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111247852	chr18:7065478-7065479	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562888562	chr18:7065484-7065485	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571764594	chr18:7065493-7065494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531131058	chr18:7065506-7065507	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58126237	chr18:7065577-7065578	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs567600973	chr18:7065596-7065597	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536272797	chr18:7065600-7065601	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142855697	chr18:7065618-7065619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57344640	chr18:7065627-7065628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200161723	chr18:7065680-7065681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112550253	chr18:7065685-7065686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151066607	chr18:7065687-7065688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575369225	chr18:7065717-7065718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7038800-7069400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr18:7039000-7069600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr18:7045200-7076200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr18:7050400-7069200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:7050400-7069200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr18:7050800-7066800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr18:7059400-7064800	Enhancers	Fetal Kidney	kidney
8	chr18:7061800-7066000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr18:7062200-7069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:7062400-7069400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:7063200-7067000	Weak transcription	Right Atrium	heart
12	chr18:7064000-7064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:7064000-7065000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:7064000-7065000	Enhancers	HMEC	breast
15	chr18:7064000-7065000	Enhancers	NHEK	skin
16	chr18:7064000-7069000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:7064200-7064600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:7064200-7065400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:7064400-7064600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr18:7064400-7064600	Enhancers	Fetal Intestine Small	intestine
21	chr18:7064400-7064800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:7064400-7064800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr18:7064400-7065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:7064400-7065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:7064600-7064800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr18:7064600-7064800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:7064600-7067000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:7064600-7070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:7064800-7065400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:7064800-7065600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:7064800-7065800	Weak transcription	Fetal Kidney	kidney
32	chr18:7064800-7071000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:7065000-7066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:7065000-7067600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr18:7065000-7079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:7065000-7083800	Weak transcription	HMEC	breast
37	chr18:7065400-7065800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:7065400-7066200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:7065600-7066400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:7065800-7066000	Enhancers	Fetal Kidney	kidney
41	chr18:7065800-7069400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr18:7066000-7067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr18:7066200-7068800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:7066400-7068000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:7066600-7066800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:7066600-7066800	Enhancers	Rectal Smooth Muscle	rectum

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