Variant report

Variant	nsv1014809
Chromosome Location	chr3:21024655-21060336
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21027317..21031156-chr3:21036432..21038394,3	K562	blood:
2	chr3:21018630..21020462-chr3:21036904..21039487,2	K562	blood:
3	chr3:21058438..21059584-chr3:21257830..21258577,6	MCF-7	breast:
4	chr3:21058134..21059174-chr3:21592293..21593050,3	MCF-7	breast:
5	chr3:21034419..21036332-chr3:21040045..21042156,2	MCF-7	breast:
6	chr3:21027317..21031156-chr3:21036432..21038394,3	K562	blood:
7	chr3:21058401..21059994-chr3:21063772..21066035,2	K562	blood:
8	chr3:21049220..21051443-chr3:21113228..21114946,2	K562	blood:
9	chr3:21058395..21059158-chr3:21525879..21526450,3	MCF-7	breast:
10	chr3:21034419..21036332-chr3:21040045..21042156,2	MCF-7	breast:

No data

Extended variants
information (count: 720 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:720 , 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	rs9850651	chr3:21024655-21024656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182050708	chr3:21024664-21024665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185296776	chr3:21024672-21024673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145077005	chr3:21024684-21024685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534101057	chr3:21024685-21024686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201460301	chr3:21024691-21024692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371427898	chr3:21024700-21024701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9850956	chr3:21024704-21024705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369961085	chr3:21024708-21024709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34899020	chr3:21024716-21024717	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138961357	chr3:21024718-21024719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562538145	chr3:21024720-21024721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576579303	chr3:21024727-21024728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577911539	chr3:21024732-21024733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190842879	chr3:21024812-21024813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560348433	chr3:21024814-21024815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182604339	chr3:21024843-21024844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9850992	chr3:21024854-21024855	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538710803	chr3:21024871-21024872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561906183	chr3:21024876-21024877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188117719	chr3:21024902-21024903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191262211	chr3:21024911-21024912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367641625	chr3:21024926-21024927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182797133	chr3:21024952-21024953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369228300	chr3:21024989-21024990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11915233	chr3:21024999-21025000	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146388723	chr3:21025041-21025042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566425436	chr3:21025047-21025048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77160349	chr3:21025102-21025103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541225308	chr3:21025134-21025135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555529008	chr3:21025187-21025188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187520267	chr3:21025201-21025202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561180502	chr3:21025217-21025218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35169309	chr3:21025258-21025259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192490865	chr3:21025264-21025265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184535661	chr3:21025268-21025269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138334873	chr3:21025288-21025289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149238381	chr3:21025378-21025379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117181283	chr3:21025385-21025386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554172524	chr3:21025403-21025404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115740474	chr3:21025412-21025413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543190135	chr3:21025439-21025440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561371009	chr3:21025474-21025475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73188333	chr3:21025482-21025483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs116647347	chr3:21025531-21025532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531996847	chr3:21025551-21025552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201785067	chr3:21025556-21025557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113195269	chr3:21025557-21025558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199531448	chr3:21025565-21025566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200914355	chr3:21025566-21025567	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21024600-21024800	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr3:21024600-21025400	Enhancers	Psoas Muscle	Psoas
3	chr3:21024800-21026200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:21026200-21026600	Enhancers	Fetal Heart	heart
5	chr3:21026200-21026600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:21026200-21027400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:21031800-21036200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr3:21032000-21040000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:21032200-21033000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:21032400-21033800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:21032600-21032800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr3:21032600-21033000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr3:21032600-21033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:21032600-21033000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:21032600-21033000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:21032600-21033400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:21032600-21033600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:21032600-21034000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:21032800-21033000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:21032800-21033000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:21032800-21034600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr3:21033000-21034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:21033000-21035000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:21033000-21035200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr3:21033000-21036600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:21033400-21039600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:21033600-21034600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:21033800-21039000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:21034000-21035000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:21034600-21034800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:21034600-21036400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:21034800-21035600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr3:21035000-21035400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:21035000-21035600	Enhancers	Brain Germinal Matrix	brain
35	chr3:21035000-21035800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:21035000-21036000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:21035200-21035400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:21035200-21036000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr3:21035400-21036000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:21035400-21038400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:21035600-21038800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:21036000-21036200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:21036200-21036800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:21036200-21038600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:21036400-21037000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:21036600-21036800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:21037000-21037200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:21037200-21037400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:21038400-21039800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr3:21038600-21039800	Enhancers	HUES64 Cell Line	embryonic stem cell

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