Variant report

Variant	nsv909509
Chromosome Location	chr18:27986202-28054261
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28037169..28038944-chr18:28041671..28043739,2	K562	blood:
2	chr18:28012318..28014586-chr18:28017843..28020751,2	K562	blood:
3	chr18:27994272..27996502-chr18:27998096..28000456,2	K562	blood:
4	chr18:28024534..28026953-chr18:28028967..28030712,2	K562	blood:
5	chr18:28012318..28014586-chr18:28017843..28020751,2	K562	blood:
6	chr18:28006039..28008398-chr18:28010379..28012459,2	K562	blood:
7	chr18:28013859..28016502-chr18:28028826..28031550,2	K562	blood:
8	chr18:28005033..28009432-chr18:28010379..28013960,5	K562	blood:
9	chr18:27994272..27996502-chr18:27998096..28000456,2	K562	blood:
10	chr18:28024534..28026953-chr18:28028967..28030712,2	K562	blood:
11	chr18:28013859..28016502-chr18:28028826..28031550,2	K562	blood:
12	chr18:28005033..28009432-chr18:28010379..28013960,5	K562	blood:
13	chr11:62608441..62609098-chr18:28038250..28038750,2	Hela-S3	cervix:
14	chr18:28006039..28008398-chr18:28010379..28012459,2	K562	blood:
15	chr18:28037169..28038944-chr18:28041671..28043739,2	K562	blood:
16	chr18:28018586..28020882-chr18:28024384..28026513,2	K562	blood:
17	chr18:28018586..28020882-chr18:28024384..28026513,2	K562	blood:

No data

Extended variants
information (count: 843 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:843 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577361948	chr18:27986411-27986412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544698219	chr18:27986427-27986428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184065545	chr18:27986444-27986445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187602134	chr18:27986445-27986446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113581024	chr18:27986447-27986448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542932217	chr18:27986448-27986449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560992511	chr18:27986517-27986518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573077487	chr18:27986518-27986519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541465479	chr18:27986525-27986526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138812523	chr18:27986533-27986534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533474746	chr18:27986622-27986623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551851521	chr18:27986640-27986641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563892723	chr18:27986660-27986661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192427476	chr18:27986663-27986664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141991018	chr18:27986669-27986670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530976195	chr18:27986676-27986677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7227711	chr18:27986677-27986678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373544257	chr18:27986721-27986722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183724542	chr18:27986736-27986737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72536342	chr18:27986778-27986779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11396167	chr18:27986779-27986780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs66638855	chr18:27986780-27986781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535321117	chr18:27986788-27986789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546226880	chr18:27986812-27986813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7226825	chr18:27986813-27986814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs76757204	chr18:27986873-27986874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376204154	chr18:27986913-27986914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371354484	chr18:27986928-27986929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117772054	chr18:27986935-27986936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575413932	chr18:27986941-27986942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78713288	chr18:27986945-27986946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116133403	chr18:27986960-27986961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367886091	chr18:27986984-27986985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200185322	chr18:27995602-27995603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568929094	chr18:27995613-27995614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530070802	chr18:27995692-27995693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184532744	chr18:27995742-27995743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147500211	chr18:27995758-27995759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189418624	chr18:27995797-27995798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542881498	chr18:27995798-27995799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138290062	chr18:27995812-27995813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570927591	chr18:27995820-27995821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12960022	chr18:27995826-27995827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114231891	chr18:27995934-27995935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556930581	chr18:27995955-27995956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142450749	chr18:28012227-28012228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572903315	chr18:28012236-28012237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533753671	chr18:28012239-28012240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77115236	chr18:28012255-28012256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374745714	chr18:28012268-28012269	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:27986400-27987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:27995600-27996000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr18:28012200-28012600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr18:28012200-28012800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr18:28012200-28012800	Enhancers	Fetal Heart	heart
6	chr18:28012200-28013000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:28019000-28019600	Enhancers	K562	blood
8	chr18:28026800-28027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr18:28026800-28027800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:28026800-28027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr18:28026800-28028200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr18:28027400-28027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:28027400-28028000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:28028000-28029000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr18:28029200-28029800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr18:28029800-28030800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:28030800-28031400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr18:28031000-28031200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:28031000-28031400	Enhancers	Fetal Brain Male	brain
20	chr18:28031400-28032400	Weak transcription	Fetal Brain Male	brain
21	chr18:28031800-28032000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:28032600-28032800	Enhancers	Fetal Brain Male	brain
23	chr18:28032600-28033600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:28033600-28036400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:28035000-28035200	Enhancers	Brain Cingulate Gyrus	brain
26	chr18:28035000-28035400	Enhancers	Brain Anterior Caudate	brain
27	chr18:28035000-28035400	Enhancers	Brain Substantia Nigra	brain
28	chr18:28035600-28036000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr18:28035800-28036000	Enhancers	Brain Cingulate Gyrus	brain
30	chr18:28036000-28036400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr18:28036400-28037200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr18:28037200-28037400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr18:28037400-28044200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr18:28042400-28042800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr18:28044200-28045800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr18:28044400-28045000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:28044800-28045600	Enhancers	Brain Substantia Nigra	brain
38	chr18:28044800-28045600	Enhancers	Fetal Lung	lung
39	chr18:28045000-28045600	Enhancers	Brain Inferior Temporal Lobe	brain

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