Variant report

Variant	nsv527771
Chromosome Location	chr3:21716235-21726363
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	chr3:21709988..21712111-chr3:21717387..21720312,2	K562	blood:
2	chr3:21721634..21724337-chr3:21728946..21730736,2	K562	blood:

Extended variants
information (count: 446 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9860048	chr3:21716235-21716236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150666042	chr3:21716243-21716244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181971541	chr3:21716262-21716263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185620863	chr3:21716325-21716326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531175748	chr3:21716354-21716355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543075777	chr3:21716370-21716371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558158262	chr3:21716380-21716381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150113836	chr3:21716387-21716388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569763354	chr3:21716388-21716389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552192748	chr3:21716391-21716392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565528890	chr3:21716403-21716404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532707534	chr3:21716407-21716408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138893928	chr3:21716415-21716416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199646803	chr3:21716423-21716424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200639592	chr3:21716426-21716427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200072666	chr3:21716427-21716428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373498853	chr3:21716428-21716429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530199856	chr3:21716431-21716432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140268815	chr3:21716446-21716447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570184380	chr3:21716488-21716489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566370955	chr3:21716512-21716513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73040075	chr3:21716513-21716514	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201128023	chr3:21716578-21716579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17009257	chr3:21716581-21716582	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs372647746	chr3:21716585-21716586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539946233	chr3:21716591-21716592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571509007	chr3:21716637-21716638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538603158	chr3:21716668-21716669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189230276	chr3:21716686-21716687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571945340	chr3:21716687-21716688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375204564	chr3:21716690-21716691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554216937	chr3:21716701-21716702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575737172	chr3:21716708-21716709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558436501	chr3:21716719-21716720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17009258	chr3:21716725-21716726	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540923598	chr3:21716730-21716731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564772308	chr3:21716762-21716763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180687955	chr3:21716788-21716789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554490681	chr3:21716793-21716794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs137884578	chr3:21716800-21716801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35769894	chr3:21716854-21716855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374781489	chr3:21716857-21716858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530286786	chr3:21716861-21716862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186387690	chr3:21716869-21716870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17618743	chr3:21716873-21716874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563731445	chr3:21716894-21716895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532676318	chr3:21716909-21716910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530947047	chr3:21716938-21716939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552539646	chr3:21717027-21717028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570786303	chr3:21717042-21717043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21707400-21719600	Weak transcription	Fetal Lung	lung
2	chr3:21707800-21719800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:21708200-21719800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:21710000-21719600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:21710000-21724400	Weak transcription	Left Ventricle	heart
6	chr3:21711200-21719600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:21712400-21717400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:21714200-21719600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:21715000-21718400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:21715000-21718400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:21715000-21728600	Weak transcription	Psoas Muscle	Psoas
12	chr3:21715800-21717400	Weak transcription	Aorta	Aorta
13	chr3:21717400-21718600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:21717400-21718600	Active TSS	Aorta	Aorta
15	chr3:21718400-21718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:21718400-21718800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:21718400-21718800	Enhancers	Fetal Stomach	stomach
18	chr3:21718400-21719000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:21718600-21718800	Flanking Active TSS	Aorta	Aorta
20	chr3:21718600-21719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:21718600-21719600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:21718800-21719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:21718800-21720000	Weak transcription	Aorta	Aorta
24	chr3:21718800-21723400	Weak transcription	Fetal Stomach	stomach
25	chr3:21719000-21720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:21719200-21719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:21719600-21719800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr3:21719600-21720400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr3:21719600-21720400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:21719600-21720400	Enhancers	Fetal Lung	lung
31	chr3:21719600-21720600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:21719600-21720600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:21719600-21720800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:21719600-21720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:21719600-21721000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:21719600-21721200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:21719800-21720000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr3:21719800-21720200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:21719800-21720400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:21719800-21720800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:21720000-21720200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:21720000-21720400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:21720000-21720400	Enhancers	Aorta	Aorta
44	chr3:21720000-21720600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:21720000-21720600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr3:21720200-21720600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:21720400-21721600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:21720400-21722200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:21720400-21727000	Weak transcription	Aorta	Aorta
50	chr3:21720600-21721000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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