Variant report

Variant	nsv1005321
Chromosome Location	chr3:21882336-21905631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21892806..21894849-chr3:21897852..21900833,2	K562	blood:
2	chr3:21902249..21903949-chr3:21904642..21906995,2	K562	blood:
3	chr3:21902249..21903949-chr3:21904642..21906995,2	K562	blood:
4	chr3:21892806..21894849-chr3:21897852..21900833,2	K562	blood:

Extended variants
information (count: 656 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545768535	chr3:21882355-21882356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565079922	chr3:21882391-21882392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373563541	chr3:21882392-21882393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577055498	chr3:21882406-21882407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193242916	chr3:21882466-21882467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2670273	chr3:21882490-21882491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs529771080	chr3:21882499-21882500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2630798	chr3:21882539-21882540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs563360022	chr3:21882549-21882550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147971920	chr3:21882555-21882556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141633938	chr3:21882569-21882570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116647568	chr3:21882582-21882583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182604249	chr3:21882593-21882594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147153863	chr3:21882608-21882609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558048248	chr3:21882610-21882611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140447728	chr3:21882619-21882620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544914461	chr3:21882624-21882625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187685722	chr3:21882633-21882634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3912513	chr3:21882659-21882660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192743351	chr3:21882674-21882675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3905748	chr3:21882676-21882677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184730324	chr3:21882695-21882696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368605446	chr3:21882701-21882702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142799413	chr3:21882702-21882703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147413499	chr3:21882737-21882738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559302617	chr3:21882742-21882743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574723537	chr3:21882821-21882822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139186508	chr3:21882823-21882824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374614500	chr3:21882826-21882827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563422469	chr3:21882848-21882849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3849554	chr3:21882895-21882896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149949466	chr3:21882898-21882899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543792026	chr3:21882903-21882904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564063275	chr3:21882925-21882926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528804821	chr3:21882930-21882931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547305903	chr3:21882931-21882932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2673522	chr3:21882969-21882970	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs9836784	chr3:21882991-21882992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs187092531	chr3:21883016-21883017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145110431	chr3:21883018-21883019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17009747	chr3:21883029-21883030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs148707284	chr3:21883030-21883031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192344547	chr3:21883056-21883057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9860503	chr3:21883082-21883083	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184505832	chr3:21883115-21883116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533212732	chr3:21883162-21883163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574782647	chr3:21883186-21883187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371770369	chr3:21883243-21883244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542088965	chr3:21883255-21883256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142275668	chr3:21883265-21883266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21881200-21884800	Weak transcription	Aorta	Aorta
2	chr3:21881400-21882400	Weak transcription	Psoas Muscle	Psoas
3	chr3:21882400-21882600	Enhancers	Psoas Muscle	Psoas
4	chr3:21882800-21883000	Enhancers	Fetal Heart	heart
5	chr3:21883000-21883200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:21883200-21884600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:21884000-21884800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:21884600-21886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:21884800-21885000	Enhancers	Aorta	Aorta
10	chr3:21885000-21888200	Weak transcription	Aorta	Aorta
11	chr3:21886200-21886600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:21888200-21889600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:21888400-21888600	Enhancers	Aorta	Aorta
14	chr3:21888400-21889200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:21897800-21898200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:21898200-21899000	Enhancers	Fetal Stomach	stomach
17	chr3:21898200-21900200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:21899200-21899600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr3:21899200-21899800	Enhancers	Ovary	ovary
20	chr3:21899600-21900800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:21899800-21902600	Weak transcription	Ovary	ovary
22	chr3:21900000-21900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:21900200-21900400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:21900200-21900800	Enhancers	Fetal Heart	heart
25	chr3:21900200-21901000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr3:21900400-21900600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:21900400-21900800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:21900600-21901000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:21900600-21901200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:21900600-21902000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:21900800-21901200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:21900800-21902000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:21901000-21901200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:21901000-21901400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:21901000-21902200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:21901200-21902000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:21901400-21902200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:21902600-21902800	Enhancers	Ovary	ovary

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