Variant report

Variant	nsv817783
Chromosome Location	chr18:9746909-9752939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
2	chr18:9751432..9753305-chr18:9757309..9758944,2	MCF-7	breast:
3	chr18:9742561..9744290-chr18:9751696..9753226,2	MCF-7	breast:
4	chr18:9709717..9711927-chr18:9749957..9752685,2	K562	blood:
5	chr18:9709717..9711665-chr18:9750469..9752685,2	K562	blood:
6	chr18:9747038..9748943-chr18:9749027..9751835,2	K562	blood:
7	chr18:9741489..9744706-chr18:9745971..9750071,5	MCF-7	breast:
8	chr18:9720136..9722151-chr18:9751810..9753463,2	K562	blood:
9	chr18:9740906..9742512-chr18:9748438..9750516,2	K562	blood:
10	chr18:9745938..9748130-chr18:9753763..9755422,2	K562	blood:
11	chr18:9740906..9743732-chr18:9749016..9751277,2	K562	blood:
12	chr18:9706059..9708947-chr18:9745597..9749109,3	MCF-7	breast:
13	chr18:9743133..9745591-chr18:9751999..9754524,3	K562	blood:
14	chr18:9742831..9745591-chr18:9750609..9753499,2	K562	blood:
15	chr18:9743740..9745947-chr18:9746216..9749165,3	K562	blood:
16	chr18:9752235..9755136-chr18:9913982..9916846,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101558	chromatin interactions
ENSG00000168461	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1116701	chr18:9746909-9746910	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533843090	chr18:9746950-9746951	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1116700	chr18:9746987-9746988	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191651493	chr18:9747052-9747053	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529020262	chr18:9747092-9747093	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549156116	chr18:9747097-9747098	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553451567	chr18:9747108-9747109	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114924261	chr18:9747120-9747121	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs375920730	chr18:9747129-9747130	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138778947	chr18:9747148-9747149	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs554852092	chr18:9747235-9747236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28816142	chr18:9747252-9747253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1116699	chr18:9747347-9747348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558541817	chr18:9747366-9747367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576795072	chr18:9747423-9747424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540735360	chr18:9747448-9747449	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74336883	chr18:9747463-9747464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115508453	chr18:9747467-9747468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542014517	chr18:9747469-9747470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563578774	chr18:9747523-9747524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs111411787	chr18:9747532-9747533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs552452246	chr18:9747534-9747535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs570482207	chr18:9747542-9747543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528474400	chr18:9747543-9747544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546708104	chr18:9747566-9747567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs8099079	chr18:9747605-9747606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535617379	chr18:9747609-9747610	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs8085665	chr18:9747630-9747631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544823870	chr18:9747635-9747636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74940692	chr18:9747642-9747643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141723503	chr18:9747687-9747688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182743076	chr18:9747691-9747692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577096332	chr18:9747735-9747736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540998746	chr18:9747736-9747737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs146250347	chr18:9747787-9747788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185491645	chr18:9747806-9747807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs541531825	chr18:9747822-9747823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2061135	chr18:9747849-9747850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372208355	chr18:9747872-9747873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34662173	chr18:9747875-9747876	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74667313	chr18:9747948-9747949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111949783	chr18:9747981-9747982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564781813	chr18:9747988-9747989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs528831507	chr18:9748102-9748103	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546965063	chr18:9748105-9748106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568372595	chr18:9748109-9748110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs11659898	chr18:9748110-9748111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs368722829	chr18:9748128-9748129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs551117428	chr18:9748176-9748177	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11659918	chr18:9748232-9748233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
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
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	18438408	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9742600-9750000	Weak transcription	Spleen	Spleen
2	chr18:9742800-9749800	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:9742800-9754400	Weak transcription	Right Ventricle	heart
4	chr18:9743000-9756200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:9743200-9750200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr18:9743400-9754800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:9743600-9755400	Weak transcription	Fetal Stomach	stomach
8	chr18:9743800-9747200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:9743800-9750000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr18:9744000-9749200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:9744000-9749200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr18:9744000-9749800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr18:9744000-9749800	Weak transcription	Brain Angular Gyrus	brain
14	chr18:9744000-9749800	Weak transcription	Brain Substantia Nigra	brain
15	chr18:9744000-9750000	Weak transcription	Brain Anterior Caudate	brain
16	chr18:9744000-9750800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:9744000-9754800	Weak transcription	Aorta	Aorta
18	chr18:9744000-9755400	Weak transcription	Lung	lung
19	chr18:9744000-9755600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:9744000-9757600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:9744200-9747000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:9744200-9747400	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr18:9744200-9749200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:9744200-9754800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr18:9744400-9749200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:9744400-9749400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:9744400-9750000	Weak transcription	NH-A	brain
28	chr18:9744400-9753200	Weak transcription	NHEK	skin
29	chr18:9744400-9753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr18:9744400-9753600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:9744400-9753600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:9744400-9755200	Weak transcription	K562	blood
33	chr18:9744400-9755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:9744400-9757000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:9744400-9757000	Weak transcription	HSMMtube	muscle
36	chr18:9744400-9757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:9744800-9753600	Weak transcription	A549	lung
38	chr18:9745200-9747200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr18:9745800-9747000	Enhancers	Hela-S3	cervix
40	chr18:9746000-9748200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr18:9746200-9748200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:9746600-9747000	Enhancers	Colon Smooth Muscle	Colon
43	chr18:9746600-9747800	Enhancers	Osteobl	bone
44	chr18:9746800-9747400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr18:9747000-9747200	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:9747000-9747400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:9747000-9748000	Weak transcription	Hela-S3	cervix
48	chr18:9747200-9747800	Enhancers	Colon Smooth Muscle	Colon
49	chr18:9747200-9749000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:9747400-9748000	Weak transcription	Monocytes-CD14+_RO01746	blood

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