Variant report

Variant	esv3434274
Chromosome Location	chr3:48855948-48859646
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	chr3:48846204..48848280-chr3:48853855..48856152,2	K562	blood:
2	chr3:48850608..48852296-chr3:48856404..48858242,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545029030	chr3:48855967-48855968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs151146191	chr3:48856002-48856003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554102515	chr3:48856029-48856030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527283407	chr3:48856070-48856071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549088228	chr3:48856081-48856082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560790252	chr3:48856139-48856140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574097993	chr3:48856231-48856232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531426871	chr3:48856272-48856273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376394304	chr3:48856290-48856291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532225741	chr3:48856325-48856326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189608521	chr3:48856353-48856354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183337386	chr3:48856357-48856358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549520191	chr3:48856393-48856394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578255823	chr3:48856407-48856408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542878861	chr3:48856500-48856501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571220109	chr3:48856539-48856540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538340658	chr3:48856551-48856552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545572759	chr3:48856692-48856693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547373874	chr3:48856714-48856715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140045965	chr3:48856727-48856728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150388139	chr3:48856728-48856729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187892811	chr3:48856740-48856741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574022880	chr3:48856742-48856743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372171740	chr3:48856785-48856786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556753079	chr3:48856855-48856856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578209752	chr3:48856877-48856878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559981106	chr3:48856884-48856885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190808978	chr3:48856956-48856957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545760515	chr3:48856998-48856999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375649906	chr3:48857051-48857052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560599081	chr3:48857155-48857156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572025523	chr3:48857214-48857215	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542233347	chr3:48857248-48857249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368233812	chr3:48857261-48857262	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371125531	chr3:48857337-48857338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138195291	chr3:48857445-48857446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549456802	chr3:48857460-48857461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564786249	chr3:48857474-48857475	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532154272	chr3:48857590-48857591	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575793615	chr3:48857672-48857673	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547704663	chr3:48857682-48857683	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565801959	chr3:48857720-48857721	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9835307	chr3:48857805-48857806	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs74354316	chr3:48857909-48857910	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367618609	chr3:48857929-48857930	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561259327	chr3:48857937-48857938	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs145921156	chr3:48857982-48857983	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs538381176	chr3:48858034-48858035	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556689619	chr3:48858043-48858044	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs571895583	chr3:48858080-48858081	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
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
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
small cell lung cancer	20016488	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
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48810000-48882800	Weak transcription	Fetal Brain Female	brain
2	chr3:48820400-48868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:48820600-48882800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:48821000-48858000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:48821000-48858200	Weak transcription	Gastric	stomach
6	chr3:48822400-48857800	Weak transcription	NHEK	skin
7	chr3:48822400-48858200	Weak transcription	HSMMtube	muscle
8	chr3:48826400-48868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:48826800-48858200	Weak transcription	Brain Angular Gyrus	brain
10	chr3:48826800-48869600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:48826800-48882800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:48827800-48858000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:48827800-48865600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:48831000-48857600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:48831200-48857200	Weak transcription	Ovary	ovary
16	chr3:48831400-48858000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:48833800-48863600	Weak transcription	HSMM	muscle
18	chr3:48842200-48871200	Weak transcription	Fetal Stomach	stomach
19	chr3:48842800-48860600	Weak transcription	Fetal Intestine Small	intestine
20	chr3:48843000-48857200	Weak transcription	Left Ventricle	heart
21	chr3:48843200-48858200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:48847600-48858000	Weak transcription	Hela-S3	cervix
23	chr3:48847600-48858000	Weak transcription	HMEC	breast
24	chr3:48849000-48857200	Weak transcription	Spleen	Spleen
25	chr3:48849000-48858000	Weak transcription	Brain Anterior Caudate	brain
26	chr3:48849400-48857800	Weak transcription	Brain Hippocampus Middle	brain
27	chr3:48849600-48857000	Weak transcription	Brain Germinal Matrix	brain
28	chr3:48850400-48870600	Weak transcription	Primary B cells from cord blood	blood
29	chr3:48850600-48882600	Weak transcription	Primary T cells from cord blood	blood
30	chr3:48850800-48858200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:48850800-48863200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr3:48850800-48871600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:48850800-48882600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr3:48850800-48882600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr3:48851000-48882400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr3:48851400-48858200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:48851800-48856800	Weak transcription	Right Atrium	heart
38	chr3:48851800-48864200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:48851800-48874400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr3:48852200-48858400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:48855200-48857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:48855400-48856000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:48855400-48856000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:48855400-48856000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr3:48855400-48856200	Enhancers	Stomach Mucosa	stomach
46	chr3:48855600-48856000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr3:48855600-48856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr3:48855600-48856200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr3:48855600-48856200	Enhancers	Psoas Muscle	Psoas
50	chr3:48855600-48858600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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