Variant report

Variant	nsv978623
Chromosome Location	chr18:24544373-24561420
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	chr18:24558208..24560365-chr18:24586834..24589687,2	K562	blood:

Extended variants
information (count: 706 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111522748	chr18:24544383-24544384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560117073	chr18:24544393-24544394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527641005	chr18:24544395-24544396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545296691	chr18:24544436-24544437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557382173	chr18:24544438-24544439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371723107	chr18:24544455-24544456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575659915	chr18:24544529-24544530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542999932	chr18:24544530-24544531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12965711	chr18:24544545-24544546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529130408	chr18:24544557-24544558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531674828	chr18:24544624-24544625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550145102	chr18:24544648-24544649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140845651	chr18:24544657-24544658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1573346	chr18:24544671-24544672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368281609	chr18:24544719-24544720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563482875	chr18:24544721-24544722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559238666	chr18:24544763-24544764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548027407	chr18:24544765-24544766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566364947	chr18:24544774-24544775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533814313	chr18:24544789-24544790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533120183	chr18:24544793-24544794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191447461	chr18:24544865-24544866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183968304	chr18:24544870-24544871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187946176	chr18:24544903-24544904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368672157	chr18:24544911-24544912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372149407	chr18:24544926-24544927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574528285	chr18:24544931-24544932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192983570	chr18:24544959-24544960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553692133	chr18:24544986-24544987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138641762	chr18:24544987-24544988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545822013	chr18:24544995-24544996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564126922	chr18:24545024-24545025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531730382	chr18:24545140-24545141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543871288	chr18:24545163-24545164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562148849	chr18:24545174-24545175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58569620	chr18:24545187-24545188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs548005938	chr18:24545198-24545199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374443348	chr18:24545201-24545202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141647377	chr18:24545278-24545279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371733172	chr18:24545320-24545321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185084884	chr18:24545342-24545343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552217584	chr18:24545345-24545346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34789339	chr18:24545369-24545370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570434211	chr18:24545376-24545377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs394544	chr18:24545390-24545391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17623649	chr18:24545409-24545410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548993041	chr18:24545418-24545419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34532475	chr18:24545446-24545447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35594975	chr18:24545473-24545474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529000100	chr18:24545504-24545505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
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
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
Sudden cardiac death	19188705	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	19651600	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24537400-24545000	Weak transcription	Brain Anterior Caudate	brain
2	chr18:24540800-24545200	Weak transcription	Colon Smooth Muscle	Colon
3	chr18:24541200-24544600	Weak transcription	Ovary	ovary
4	chr18:24542400-24549800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr18:24542400-24557600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:24543400-24544600	Weak transcription	Liver	Liver
7	chr18:24543400-24544600	Weak transcription	Pancreas	Pancrea
8	chr18:24543400-24544600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr18:24543800-24547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:24544400-24545600	Enhancers	Psoas Muscle	Psoas
11	chr18:24544600-24545000	Enhancers	Right Ventricle	heart
12	chr18:24544600-24545000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr18:24544600-24545400	Enhancers	Ovary	ovary
14	chr18:24544600-24545600	Enhancers	Pancreas	Pancrea
15	chr18:24544600-24545800	Enhancers	Liver	Liver
16	chr18:24545000-24545200	Enhancers	Brain Anterior Caudate	brain
17	chr18:24545000-24545600	Enhancers	Stomach Smooth Muscle	stomach
18	chr18:24545200-24545600	Enhancers	Colon Smooth Muscle	Colon
19	chr18:24545600-24590400	Weak transcription	Pancreas	Pancrea
20	chr18:24546400-24547400	Enhancers	Brain Hippocampus Middle	brain
21	chr18:24546400-24547600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:24547000-24547200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:24547000-24547400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:24547800-24548000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:24553400-24553600	Enhancers	Psoas Muscle	Psoas
26	chr18:24553600-24555800	Weak transcription	Psoas Muscle	Psoas
27	chr18:24555800-24556600	Enhancers	Psoas Muscle	Psoas
28	chr18:24556200-24557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:24556200-24557200	Enhancers	Fetal Stomach	stomach
30	chr18:24556200-24557800	Enhancers	Adipose Nuclei	Adipose
31	chr18:24556200-24558000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:24556200-24558800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr18:24556200-24559200	Enhancers	Dnd41	blood
34	chr18:24556400-24556600	Enhancers	Primary B cells from cord blood	blood
35	chr18:24556400-24556800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:24556400-24556800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:24556400-24556800	Enhancers	Ovary	ovary
38	chr18:24556400-24558600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:24556600-24557800	Enhancers	GM12878-XiMat	blood
40	chr18:24556600-24558600	Weak transcription	Psoas Muscle	Psoas
41	chr18:24556800-24557800	Weak transcription	Primary B cells from cord blood	blood
42	chr18:24556800-24558800	Weak transcription	Ovary	ovary
43	chr18:24557400-24559000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:24557600-24558600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr18:24557600-24559200	Enhancers	Primary B cells from peripheral blood	blood
46	chr18:24557800-24558200	Flanking Active TSS	GM12878-XiMat	blood
47	chr18:24557800-24558600	Enhancers	Primary B cells from cord blood	blood
48	chr18:24558200-24559200	Active TSS	GM12878-XiMat	blood
49	chr18:24558600-24558800	Enhancers	Thymus	Thymus
50	chr18:24558600-24561200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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