Variant report

Variant	nsv876810
Chromosome Location	chr3:54480798-54585416
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:54522382..54524571-chr3:54629813..54631587,2	MCF-7	breast:
2	chr3:54557793..54560174-chr3:54563336..54565022,2	MCF-7	breast:
3	chr3:54557793..54560174-chr3:54563336..54565022,2	MCF-7	breast:
4	chr3:54467585..54468369-chr3:54511234..54512210,5	MCF-7	breast:
5	chr3:54477529..54479900-chr3:54479962..54482287,2	MCF-7	breast:
6	chr3:54467613..54468517-chr3:54511646..54512238,3	MCF-7	breast:
7	chr3:54516540..54518634-chr3:54529367..54532226,2	K562	blood:
8	chr3:54516540..54518634-chr3:54529367..54532226,2	K562	blood:
9	chr3:54467626..54468675-chr3:54567589..54568828,8	MCF-7	breast:

No data

Extended variants
information (count: 2358 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2358 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1530732	chr3:54480798-54480799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543911058	chr3:54480841-54480842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116240206	chr3:54480849-54480850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553737812	chr3:54480892-54480893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146448346	chr3:54480972-54480973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560297862	chr3:54480984-54480985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529588255	chr3:54480990-54480991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543305774	chr3:54480995-54480996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562785751	chr3:54481013-54481014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531693231	chr3:54481037-54481038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138539878	chr3:54481045-54481046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551910951	chr3:54481048-54481049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138646577	chr3:54481066-54481067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571732992	chr3:54481074-54481075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377606511	chr3:54481081-54481082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527769726	chr3:54481147-54481148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546842002	chr3:54481157-54481158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566653963	chr3:54481165-54481166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567807968	chr3:54481180-54481181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140683432	chr3:54481184-54481185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538048000	chr3:54481185-54481186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568761565	chr3:54481225-54481226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537420068	chr3:54481236-54481237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369902645	chr3:54481278-54481279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578241523	chr3:54481294-54481295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192208754	chr3:54481333-54481334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577354731	chr3:54481398-54481399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145788775	chr3:54481430-54481431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554118176	chr3:54481477-54481478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574169953	chr3:54481542-54481543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542963610	chr3:54481550-54481551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563152876	chr3:54481558-54481559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531763695	chr3:54481668-54481669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57360149	chr3:54481673-54481674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370271648	chr3:54481676-54481677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189478574	chr3:54481699-54481700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527831565	chr3:54481704-54481705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192684649	chr3:54481726-54481727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566557765	chr3:54481738-54481739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529036973	chr3:54481806-54481807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4974368	chr3:54481809-54481810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569098896	chr3:54481810-54481811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141075355	chr3:54481835-54481836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185515978	chr3:54481890-54481891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570908442	chr3:54481902-54481903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533684079	chr3:54481909-54481910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4974361	chr3:54481944-54481945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs189588383	chr3:54481955-54481956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572447972	chr3:54481965-54481966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180789507	chr3:54481966-54481967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Renal cell carcinoma	18765545	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54479000-54481400	Weak transcription	HepG2	liver
2	chr3:54480000-54482000	Weak transcription	Esophagus	oesophagus
3	chr3:54481400-54481800	Enhancers	HepG2	liver
4	chr3:54482000-54482400	Enhancers	Esophagus	oesophagus
5	chr3:54498000-54498400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr3:54499200-54502600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:54499600-54499800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr3:54502200-54503000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr3:54502400-54503000	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr3:54502600-54503200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:54503000-54503200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:54514800-54515200	Enhancers	Fetal Lung	lung
13	chr3:54515200-54515600	Flanking Active TSS	Fetal Lung	lung
14	chr3:54515400-54516000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:54515400-54516800	Enhancers	Brain Germinal Matrix	brain
16	chr3:54515400-54516800	Enhancers	Fetal Brain Male	brain
17	chr3:54515600-54516000	Active TSS	Fetal Lung	lung
18	chr3:54516000-54516400	Flanking Active TSS	Fetal Lung	lung
19	chr3:54516400-54516800	Enhancers	Fetal Lung	lung
20	chr3:54516400-54517000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:54516800-54517200	Flanking Active TSS	Fetal Lung	lung
22	chr3:54517200-54517400	Enhancers	Fetal Lung	lung
23	chr3:54520400-54521400	Enhancers	Brain Anterior Caudate	brain
24	chr3:54520600-54521000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:54520600-54521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:54521000-54522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:54524000-54524600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr3:54524000-54527000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr3:54527600-54528000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:54527600-54528600	Enhancers	HMEC	breast
31	chr3:54527800-54528400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:54528000-54528600	Enhancers	Brain Hippocampus Middle	brain
33	chr3:54536600-54536800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:54536800-54545600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr3:54537800-54538200	Enhancers	Fetal Muscle Leg	muscle
36	chr3:54537800-54538400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:54538600-54541000	Weak transcription	Spleen	Spleen
38	chr3:54540000-54540600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:54540000-54540800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:54540000-54541200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:54543800-54553600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:54545600-54546200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:54545800-54546400	Enhancers	Fetal Muscle Trunk	muscle
44	chr3:54546000-54546400	Enhancers	Fetal Muscle Leg	muscle
45	chr3:54547600-54548000	Enhancers	Fetal Brain Female	brain
46	chr3:54547600-54550600	Enhancers	Fetal Brain Male	brain
47	chr3:54548000-54548400	Weak transcription	Fetal Brain Female	brain
48	chr3:54548400-54549000	Enhancers	Fetal Brain Female	brain
49	chr3:54550200-54553000	Weak transcription	Ovary	ovary
50	chr3:54551400-54552000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links