Variant report

Variant	nsv820095
Chromosome Location	chr18:29477466-29481069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29474340..29476672-chr18:29479905..29482693,2	K562	blood:
2	chr18:29475912..29478004-chr18:29521825..29524429,2	MCF-7	breast:
3	chr18:29477012..29478929-chr18:29485217..29488181,2	K562	blood:

Variant related genes	Relation type
ENSG00000263823	chromatin interactions
ENSG00000153339	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs142506873	chr18:29477485-29477486	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs569736955	chr18:29477486-29477487	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547954786	chr18:29477489-29477490	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181992955	chr18:29477515-29477516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75997629	chr18:29477521-29477522	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540106247	chr18:29477564-29477565	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111681001	chr18:29477583-29477584	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs80037673	chr18:29477598-29477599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113969774	chr18:29477648-29477649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs528340405	chr18:29477665-29477666	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372592101	chr18:29477693-29477694	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537441528	chr18:29477698-29477699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558038370	chr18:29477699-29477700	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs398100776	chr18:29477707-29477708	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs574066554	chr18:29477715-29477716	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370236849	chr18:29477763-29477764	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs17855000	chr18:29477770-29477771	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200284057	chr18:29477779-29477780	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs17857486	chr18:29477796-29477797	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553104361	chr18:29477812-29477813	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs374281103	chr18:29477824-29477825	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs199718960	chr18:29477850-29477851	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111328794	chr18:29477858-29477859	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201881566	chr18:29477871-29477872	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs368308230	chr18:29477878-29477879	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs372280636	chr18:29477882-29477883	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34122861	chr18:29477887-29477888	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs138966105	chr18:29477891-29477892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566870608	chr18:29477941-29477942	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs374315904	chr18:29477954-29477955	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542597206	chr18:29477968-29477969	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs35022287	chr18:29478022-29478023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560853899	chr18:29478047-29478048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189900325	chr18:29478065-29478066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36095058	chr18:29478102-29478103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180872783	chr18:29478108-29478109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185932262	chr18:29478131-29478132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568995060	chr18:29478136-29478137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116725665	chr18:29478251-29478252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534944430	chr18:29478286-29478287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35823636	chr18:29478311-29478312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570356173	chr18:29478367-29478368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537478559	chr18:29478373-29478374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114119721	chr18:29478390-29478391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572510636	chr18:29478465-29478466	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149430196	chr18:29478495-29478496	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535083478	chr18:29478573-29478574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191260045	chr18:29478595-29478596	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552901163	chr18:29478608-29478609	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs62093860	chr18:29478627-29478628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
10	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
11	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
12	chr18:29456000-29479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr18:29456000-29480000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
16	chr18:29457200-29479600	Weak transcription	Colonic Mucosa	Colon
17	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:29457400-29479800	Weak transcription	Pancreas	Pancrea
19	chr18:29457400-29484800	Weak transcription	NHEK	skin
20	chr18:29457600-29479800	Weak transcription	Right Ventricle	heart
21	chr18:29458200-29479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:29458200-29479600	Weak transcription	Aorta	Aorta
23	chr18:29458200-29479600	Weak transcription	Esophagus	oesophagus
24	chr18:29458200-29482600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
26	chr18:29459000-29481400	Weak transcription	NHLF	lung
27	chr18:29460400-29501200	Strong transcription	Liver	Liver
28	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
31	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
32	chr18:29462600-29479800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr18:29462600-29485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:29462600-29489000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:29462800-29485200	Weak transcription	Brain Germinal Matrix	brain
36	chr18:29462800-29486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr18:29463200-29490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr18:29463600-29481600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:29463800-29477800	Weak transcription	Colon Smooth Muscle	Colon
41	chr18:29464400-29479600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:29464600-29477800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr18:29465000-29489200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:29465600-29480200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr18:29466200-29486000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr18:29466200-29489000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr18:29466400-29490800	Strong transcription	Placenta	Placenta
48	chr18:29466600-29477600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr18:29466600-29485800	Strong transcription	Dnd41	blood
50	chr18:29466800-29489000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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