Variant report

Variant	nsv876611
Chromosome Location	chr3:21365934-21414060
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
2	chr3:21388282..21390460-chr3:21398661..21400819,2	K562	blood:
3	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
4	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:
5	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:
6	chr3:21388598..21390467-chr3:21391576..21393925,2	K562	blood:
7	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
8	chr3:21384888..21387310-chr3:21389573..21391520,2	K562	blood:
9	chr3:21386176..21388301-chr3:21404995..21407589,2	K562	blood:
10	chr3:21381102..21383225-chr3:21383828..21386655,2	MCF-7	breast:
11	chr3:21357091..21358959-chr3:21367501..21369153,2	K562	blood:

No data

Extended variants
information (count: 406 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:406 , 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	rs114455081	chr3:21367453-21367454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142183101	chr3:21367517-21367518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532208743	chr3:21367538-21367539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538767594	chr3:21367572-21367573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191236523	chr3:21367594-21367595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183766772	chr3:21367624-21367625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs952838	chr3:21367641-21367642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555115681	chr3:21367642-21367643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75204427	chr3:21367659-21367660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543693033	chr3:21367672-21367673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552033119	chr3:21367709-21367710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564966457	chr3:21367785-21367786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116089946	chr3:21367843-21367844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139436227	chr3:21367844-21367845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368440314	chr3:21367845-21367846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377268070	chr3:21367929-21367930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76253989	chr3:21367974-21367975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530159047	chr3:21367990-21367991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9825848	chr3:21368053-21368054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561105169	chr3:21368077-21368078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62235460	chr3:21368096-21368097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531544383	chr3:21368199-21368200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550079464	chr3:21368243-21368244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374124027	chr3:21368268-21368269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375624697	chr3:21368283-21368284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537979100	chr3:21368324-21368325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375939216	chr3:21368337-21368338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188832769	chr3:21368411-21368412	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538630677	chr3:21368421-21368422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149664911	chr3:21368454-21368455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565659878	chr3:21368469-21368470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536310111	chr3:21368488-21368489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60173577	chr3:21368526-21368527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192881366	chr3:21368538-21368539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185269251	chr3:21368589-21368590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557794152	chr3:21368659-21368660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373532497	chr3:21368688-21368689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73819908	chr3:21368732-21368733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190119453	chr3:21368756-21368757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377228830	chr3:21368882-21368883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536475187	chr3:21368933-21368934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541028231	chr3:21368979-21368980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557493168	chr3:21369063-21369064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559673617	chr3:21369096-21369097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182173913	chr3:21369192-21369193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542296276	chr3:21369195-21369196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560956355	chr3:21369201-21369202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531531998	chr3:21369245-21369246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550140405	chr3:21369321-21369322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187215125	chr3:21369377-21369378	Weak transcription Enhancers	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21367400-21367800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:21367400-21369200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:21367600-21367800	Enhancers	Ovary	ovary
4	chr3:21367600-21369000	Enhancers	Brain Germinal Matrix	brain
5	chr3:21367600-21369200	Enhancers	NH-A	brain
6	chr3:21367600-21369800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:21367800-21368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:21368000-21368800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:21368000-21369000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:21368200-21368400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:21368200-21368400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr3:21368200-21369000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:21368400-21368600	Enhancers	Fetal Brain Female	brain
14	chr3:21368400-21368800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:21368400-21369000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:21368400-21369200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:21368400-21369200	Enhancers	Fetal Brain Male	brain
18	chr3:21368400-21370000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:21368400-21371400	Weak transcription	Ovary	ovary
20	chr3:21368800-21369000	Enhancers	Fetal Lung	lung
21	chr3:21368800-21369800	Weak transcription	Fetal Brain Female	brain
22	chr3:21368800-21371200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:21369000-21370200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:21369000-21371200	Weak transcription	Brain Germinal Matrix	brain
25	chr3:21369000-21373600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:21369200-21370000	Weak transcription	Fetal Brain Male	brain
27	chr3:21369800-21370000	Enhancers	Fetal Brain Female	brain
28	chr3:21370000-21370200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:21370000-21370400	Flanking Active TSS	Fetal Brain Female	brain
30	chr3:21370000-21371600	Enhancers	Fetal Brain Male	brain
31	chr3:21370200-21370400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr3:21370400-21370600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:21370400-21370600	Active TSS	Fetal Brain Female	brain
34	chr3:21370400-21370600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr3:21370600-21370800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:21370600-21371000	Weak transcription	Fetal Brain Female	brain
37	chr3:21370600-21371400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:21370800-21371600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr3:21371000-21371400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:21371000-21371800	Enhancers	Fetal Brain Female	brain
41	chr3:21371200-21371400	Enhancers	Liver	Liver
42	chr3:21371200-21371400	Enhancers	Brain Germinal Matrix	brain
43	chr3:21371200-21372000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:21371400-21371600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr3:21371400-21371800	Flanking Active TSS	Liver	Liver
46	chr3:21371400-21371800	Enhancers	Fetal Lung	lung
47	chr3:21371400-21371800	Enhancers	Ovary	ovary
48	chr3:21371400-21371800	Enhancers	Dnd41	blood
49	chr3:21371400-21372000	Enhancers	Colon Smooth Muscle	Colon
50	chr3:21371400-21372200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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