Variant report

Variant	nsv3823
Chromosome Location	chr3:53003659-53051063
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
2	chr3:53047316..53051698-chr3:53056732..53062167,5	MCF-7	breast:
3	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:
4	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:
5	chr3:53045411..53048406-chr3:53050370..53052257,2	K562	blood:
6	chr3:53004365..53006043-chr3:53009863..53012220,2	MCF-7	breast:
7	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:
8	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:
9	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:
10	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:
11	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
12	chr3:53004365..53006043-chr3:53009863..53012220,2	MCF-7	breast:
13	chr3:53004813..53006485-chr3:53007030..53009652,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 1759 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1759 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183624958	chr3:53003661-53003662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73839774	chr3:53003669-53003670	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551911740	chr3:53003687-53003688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565664922	chr3:53003795-53003796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534457118	chr3:53003801-53003802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114222362	chr3:53003804-53003805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574170078	chr3:53003820-53003821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536866252	chr3:53003845-53003846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143689563	chr3:53003846-53003847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116456132	chr3:53003864-53003865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545690633	chr3:53003938-53003939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189478717	chr3:53003939-53003940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374065652	chr3:53003980-53003981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148118319	chr3:53003987-53003988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72961745	chr3:53003991-53003992	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558664115	chr3:53003992-53003993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78998890	chr3:53004116-53004117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76068204	chr3:53004117-53004118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556093866	chr3:53004127-53004128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562233206	chr3:53004155-53004156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576940195	chr3:53004157-53004158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530991182	chr3:53004189-53004190	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551230259	chr3:53004292-53004293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564646686	chr3:53004301-53004302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371599029	chr3:53004371-53004372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373469917	chr3:53004450-53004451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62253650	chr3:53004465-53004466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs181273212	chr3:53004475-53004476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556151755	chr3:53004496-53004497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547845154	chr3:53004500-53004501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377536446	chr3:53004543-53004544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370403980	chr3:53004598-53004599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6792578	chr3:53004604-53004605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556784740	chr3:53004613-53004614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576620408	chr3:53004619-53004620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6768844	chr3:53004620-53004621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs576822195	chr3:53004685-53004686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560958096	chr3:53004703-53004704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35596635	chr3:53004730-53004731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540328655	chr3:53004734-53004735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535187296	chr3:53004864-53004865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141721998	chr3:53004906-53004907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146009465	chr3:53004921-53004922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59712856	chr3:53005065-53005066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575836011	chr3:53005072-53005073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57916015	chr3:53005110-53005111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs564709422	chr3:53005126-53005127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186737302	chr3:53005138-53005139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540422810	chr3:53005167-53005168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35849389	chr3:53005235-53005236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:97)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
Endometrioid adenocarcinoma	16974079	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 peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
small cell lung cancer	20016488	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52954000-53012200	Weak transcription	Esophagus	oesophagus
2	chr3:52954200-53012200	Weak transcription	Pancreas	Pancrea
3	chr3:52962400-53007000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:52962400-53012400	Weak transcription	Adipose Nuclei	Adipose
5	chr3:52964600-53012200	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
7	chr3:52965600-53008200	Weak transcription	GM12878-XiMat	blood
8	chr3:52969000-53008000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:52975000-53008000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:52984400-53006000	Weak transcription	Fetal Heart	heart
12	chr3:52986400-53012200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:52986800-53006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:52987400-53004600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:52987600-53005800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:52987600-53009400	Weak transcription	Placenta	Placenta
18	chr3:52987600-53014200	Weak transcription	Fetal Thymus	thymus
19	chr3:52987600-53014200	Weak transcription	Thymus	Thymus
20	chr3:52987800-53004600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:52988000-53004800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:52988000-53014200	Weak transcription	Primary T cells from cord blood	blood
25	chr3:52992000-53015800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:52992200-53005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
28	chr3:52995200-53007000	Weak transcription	Right Ventricle	heart
29	chr3:52997200-53008200	Weak transcription	A549	lung
30	chr3:52998600-53004400	Weak transcription	Fetal Stomach	stomach
31	chr3:52999000-53008200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:53001400-53008000	Weak transcription	Osteobl	bone
33	chr3:53001800-53008800	Weak transcription	Brain Substantia Nigra	brain
34	chr3:53002000-53004000	Strong transcription	Fetal Intestine Large	intestine
35	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:53002200-53005000	Weak transcription	Brain Angular Gyrus	brain
37	chr3:53002400-53005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr3:53002400-53007800	Weak transcription	Hela-S3	cervix
39	chr3:53002400-53012000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:53002400-53013400	Weak transcription	Liver	Liver
41	chr3:53002600-53004800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:53002800-53004000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:53003000-53004000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:53003200-53004800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:53003400-53005400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:53003400-53016000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr3:53003400-53017000	Weak transcription	Dnd41	blood
48	chr3:53003600-53004000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:53003600-53004200	Strong transcription	Fetal Intestine Small	intestine
50	chr3:53003600-53005200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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