Variant report

Variant	nsv2250
Chromosome Location	chr18:30473758-30505927
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:18)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
2	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:
3	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
4	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
5	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:
6	chr18:30505715..30508318-chr18:30511122..30512749,2	MCF-7	breast:
7	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
8	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:
9	chr18:30414875..30417586-chr18:30473319..30475920,2	MCF-7	breast:
10	chr18:30479533..30480412-chr18:30499540..30500172,2	MCF-7	breast:
11	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
12	chr18:30479602..30480672-chr18:30499517..30500435,5	MCF-7	breast:
13	chr18:30492146..30494495-chr18:30497517..30499760,2	K562	blood:
14	chr18:30492890..30494424-chr18:30498589..30500639,2	MCF-7	breast:
15	chr18:30155970..30156491-chr18:30499440..30500054,2	MCF-7	breast:
16	chr18:30482192..30483831-chr18:30485480..30487269,2	K562	blood:
17	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
18	chr18:30487680..30490056-chr18:30492113..30494145,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012123.1.1-1	chr18:30492797-30492821	NONHSAT058872
2	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058876
3	lnc-AC012123.1.1-1	chr18:30492797-30492928	ENSG00000263765.1
4	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058870
5	lnc-AC012123.1.1-1	chr18:30492858-30492929	NONHSAT058876
6	lnc-AC012123.1.1-1	chr18:30475192-30475386	NONHSAT058872
7	lnc-AC012123.1.1-1	chr18:30481478-30481714	NONHSAT058870
8	lnc-AC012123.1.1-1	chr18:30480469-30480577	NONHSAT058870

No data

Variant related genes	Relation type
ENSG00000263765	chromatin interactions

Extended variants
information (count: 1010 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79092093	chr18:30473781-30473782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550237569	chr18:30473816-30473817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556390084	chr18:30473817-30473818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375970106	chr18:30473822-30473823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568557386	chr18:30473827-30473828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568420206	chr18:30473889-30473890	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs113348752	chr18:30473908-30473909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111284396	chr18:30473909-30473910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs192299579	chr18:30473927-30473928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs184641327	chr18:30473940-30473941	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567818671	chr18:30473947-30473948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114730679	chr18:30473988-30473989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535628076	chr18:30474030-30474031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189149787	chr18:30474037-30474038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138311721	chr18:30474039-30474040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56315842	chr18:30474075-30474076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145866582	chr18:30474076-30474077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545200730	chr18:30474126-30474127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181956292	chr18:30474127-30474128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184220491	chr18:30474156-30474157	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374469093	chr18:30474183-30474184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561189144	chr18:30474241-30474242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554054047	chr18:30474256-30474257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188881028	chr18:30474262-30474263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111235249	chr18:30474274-30474275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9962968	chr18:30474276-30474277	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs9963068	chr18:30474367-30474368	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532328689	chr18:30474370-30474371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs573689848	chr18:30474374-30474375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550298862	chr18:30474420-30474421	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182105194	chr18:30474432-30474433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529646815	chr18:30474446-30474447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547756908	chr18:30474506-30474507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs567966617	chr18:30474513-30474514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535042988	chr18:30474545-30474546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553609289	chr18:30474554-30474555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs148999167	chr18:30474563-30474564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9952405	chr18:30474574-30474575	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34050667	chr18:30474576-30474577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557493730	chr18:30474587-30474588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111925697	chr18:30474601-30474602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557882637	chr18:30474625-30474626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs76981197	chr18:30474655-30474656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs80117710	chr18:30474734-30474735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573166740	chr18:30474736-30474737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186346733	chr18:30474775-30474776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561121037	chr18:30474784-30474785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190012662	chr18:30474794-30474795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs180725480	chr18:30474855-30474856	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs562267648	chr18:30474889-30474890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30469800-30475200	Weak transcription	Pancreas	Pancrea
2	chr18:30472200-30473800	Weak transcription	HepG2	liver
3	chr18:30473800-30474000	Enhancers	HepG2	liver
4	chr18:30475200-30475400	ZNF genes & repeats	Pancreas	Pancrea
5	chr18:30477200-30477600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr18:30477400-30477800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:30482000-30483200	Enhancers	Primary B cells from peripheral blood	blood
8	chr18:30482000-30483600	Enhancers	Primary B cells from cord blood	blood
9	chr18:30483200-30486600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr18:30485400-30485800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:30485400-30485800	Enhancers	Ovary	ovary
12	chr18:30485400-30487600	Enhancers	Fetal Brain Male	brain
13	chr18:30485600-30489200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:30485800-30486000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:30485800-30486800	Weak transcription	Ovary	ovary
16	chr18:30485800-30489800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:30486000-30486800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:30486000-30487000	Enhancers	HMEC	breast
19	chr18:30486200-30487200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr18:30486400-30486600	Bivalent Enhancer	HepG2	liver
21	chr18:30486600-30487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:30486600-30487000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr18:30486600-30487000	Enhancers	Adipose Nuclei	Adipose
24	chr18:30486600-30488000	Enhancers	Primary B cells from peripheral blood	blood
25	chr18:30486800-30487000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:30486800-30487000	Enhancers	Ovary	ovary
27	chr18:30486800-30487400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr18:30487000-30487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr18:30487000-30487800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:30487000-30490400	Weak transcription	HMEC	breast
31	chr18:30487200-30487600	Enhancers	Brain Hippocampus Middle	brain
32	chr18:30487200-30490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr18:30487400-30487600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:30487400-30487600	Enhancers	Primary B cells from cord blood	blood
35	chr18:30487400-30487800	Enhancers	HepG2	liver
36	chr18:30487400-30488000	Enhancers	Brain Cingulate Gyrus	brain
37	chr18:30487400-30489800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:30487600-30487800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:30487600-30487800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:30487600-30488000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr18:30487600-30488400	Weak transcription	Primary B cells from cord blood	blood
42	chr18:30487800-30489800	Weak transcription	HepG2	liver
43	chr18:30487800-30490800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:30487800-30490800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr18:30488000-30488400	Weak transcription	Primary B cells from peripheral blood	blood
46	chr18:30488400-30488600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr18:30488400-30491200	Enhancers	Primary B cells from peripheral blood	blood
48	chr18:30488400-30492200	Enhancers	Primary B cells from cord blood	blood
49	chr18:30489200-30489600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:30489400-30491800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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