Variant report

Variant	nsv461289
Chromosome Location	chr4:21588298-21639516
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-3	chr4:21610433-21610568	ENSG00000250092.2
2	lnc-PACRGL-3	chr4:21614955-21615351	ENSG00000250092.2

Extended variants
information (count: 1123 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185145349	chr4:21590004-21590005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146700658	chr4:21590086-21590087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7681243	chr4:21590104-21590105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73252288	chr4:21590153-21590154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75578936	chr4:21590154-21590155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532619790	chr4:21590157-21590158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73252289	chr4:21590158-21590159	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs562336575	chr4:21590186-21590187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529831353	chr4:21590193-21590194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7657287	chr4:21590260-21590261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368208887	chr4:21590263-21590264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11373136	chr4:21590288-21590289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527501595	chr4:21590355-21590356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7681823	chr4:21590374-21590375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540559816	chr4:21590423-21590424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139071400	chr4:21590431-21590432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570765388	chr4:21590433-21590434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531516648	chr4:21590461-21590462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376721003	chr4:21590476-21590477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73252290	chr4:21590560-21590561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142632208	chr4:21590572-21590573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554779584	chr4:21590594-21590595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200968490	chr4:21593410-21593411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541514573	chr4:21593416-21593417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112825749	chr4:21593432-21593433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533583433	chr4:21593518-21593519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370135095	chr4:21593561-21593562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115183862	chr4:21593568-21593569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564013988	chr4:21593599-21593600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115530492	chr4:21593600-21593601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553832812	chr4:21593622-21593623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73800237	chr4:21593635-21593636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs16871503	chr4:21593655-21593656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192039749	chr4:21593656-21593657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546302298	chr4:21593660-21593661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73254304	chr4:21593683-21593684	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs569930895	chr4:21593751-21593752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538447379	chr4:21593776-21593777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73254305	chr4:21593811-21593812	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73109878	chr4:21593814-21593815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114114204	chr4:21593816-21593817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376577258	chr4:21593847-21593848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2174248	chr4:21593880-21593881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35823075	chr4:21593917-21593918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574104064	chr4:21593924-21593925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146397377	chr4:21593926-21593927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184591843	chr4:21593950-21593951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578110704	chr4:21593997-21593998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187722411	chr4:21594053-21594054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563722951	chr4:21594078-21594079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21590000-21590600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:21590000-21590600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:21593400-21595200	Enhancers	Brain Hippocampus Middle	brain
4	chr4:21593600-21593800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:21593600-21594200	Enhancers	Brain Angular Gyrus	brain
6	chr4:21593800-21594200	Enhancers	Brain Cingulate Gyrus	brain
7	chr4:21593800-21597600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:21594200-21597400	Weak transcription	Brain Angular Gyrus	brain
9	chr4:21594200-21598400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:21594400-21594600	Enhancers	Brain Anterior Caudate	brain
11	chr4:21594600-21595600	Enhancers	Fetal Brain Male	brain
12	chr4:21594800-21595400	Enhancers	Ovary	ovary
13	chr4:21594800-21595600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr4:21595000-21595800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:21595200-21595600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:21595200-21597400	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:21597200-21597800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:21597200-21597800	Enhancers	Colon Smooth Muscle	Colon
19	chr4:21597200-21598000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:21597200-21598000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:21597200-21598800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:21597400-21598200	Enhancers	Brain Hippocampus Middle	brain
23	chr4:21597400-21598600	Enhancers	Brain Anterior Caudate	brain
24	chr4:21597400-21598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:21597400-21599200	Enhancers	Brain Angular Gyrus	brain
26	chr4:21597600-21597800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr4:21597600-21598800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr4:21597600-21598800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:21597600-21599400	Enhancers	Brain Substantia Nigra	brain
30	chr4:21597800-21598200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:21597800-21598800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:21598000-21598200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:21598000-21598200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:21598000-21598400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr4:21598000-21598600	Enhancers	Fetal Heart	heart
36	chr4:21598000-21598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:21598000-21598800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:21598200-21598400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:21598200-21598600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:21598200-21598600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:21598200-21598600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr4:21598200-21598800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr4:21598200-21598800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr4:21598400-21598600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:21598400-21598800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr4:21598400-21598800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr4:21598400-21599200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:21598600-21598800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:21598800-21599400	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:21598800-21599400	Enhancers	Brain Hippocampus Middle	brain

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