Variant report

Variant	esv3343248
Chromosome Location	chr3:49177848-49180746
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	chr3:49057782..49059495-chr3:49177436..49179883,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000207605	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536446255	chr3:49177901-49177902	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs576919017	chr3:49178047-49178048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs555285274	chr3:49178057-49178058	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs576671851	chr3:49178134-49178135	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs543855773	chr3:49178156-49178157	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs147201615	chr3:49178230-49178231	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558289991	chr3:49178245-49178246	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs576873034	chr3:49178268-49178269	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs372768899	chr3:49178270-49178271	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs559466596	chr3:49178287-49178288	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs369119083	chr3:49178302-49178303	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs189051796	chr3:49178303-49178304	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs34995427	chr3:49178323-49178324	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs117393688	chr3:49178383-49178384	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs114747763	chr3:49178386-49178387	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs9875336	chr3:49178418-49178419	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs575156249	chr3:49178461-49178462	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs80070701	chr3:49178466-49178467	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs552416174	chr3:49178507-49178508	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs564974907	chr3:49178537-49178538	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs542554446	chr3:49178557-49178558	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs140483425	chr3:49178592-49178593	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs144381956	chr3:49178593-49178594	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs560801114	chr3:49178672-49178673	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs565827723	chr3:49178709-49178710	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs192170096	chr3:49178721-49178722	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548498898	chr3:49178741-49178742	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs6784111	chr3:49178846-49178847	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537359816	chr3:49178849-49178850	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs56009427	chr3:49178853-49178854	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs55724942	chr3:49178854-49178855	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs559278084	chr3:49178864-49178865	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576939067	chr3:49178912-49178913	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs79780808	chr3:49178922-49178923	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147697964	chr3:49178959-49178960	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs9880088	chr3:49178990-49178991	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs369558758	chr3:49179026-49179027	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs563355026	chr3:49179029-49179030	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs140969257	chr3:49179045-49179046	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560976190	chr3:49179117-49179118	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs184382916	chr3:49179141-49179142	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs149773245	chr3:49179170-49179171	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs532413243	chr3:49179186-49179187	ZNF genes & repeats Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs72936890	chr3:49179225-49179226	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145708826	chr3:49179249-49179250	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs530156483	chr3:49179260-49179261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548629403	chr3:49179293-49179294	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs570187755	chr3:49179304-49179305	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs188739403	chr3:49179359-49179360	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552948439	chr3:49179401-49179402	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49171600-49178800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:49171600-49179000	Weak transcription	Thymus	Thymus
3	chr3:49172200-49200400	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:49173200-49178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:49174000-49179200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:49177800-49178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:49177800-49178800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:49177800-49178800	Weak transcription	Placenta	Placenta
9	chr3:49177800-49179000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:49177800-49179000	Weak transcription	Esophagus	oesophagus
11	chr3:49178800-49179200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:49178800-49179400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:49178800-49179600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr3:49178800-49179600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:49178800-49179800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:49178800-49179800	ZNF genes & repeats	Placenta	Placenta
17	chr3:49179000-49179400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:49179000-49179400	Bivalent Enhancer	HepG2	liver
19	chr3:49179000-49179800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:49179000-49179800	Enhancers	Esophagus	oesophagus
21	chr3:49179200-49179800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:49179200-49179800	Enhancers	Right Ventricle	heart
23	chr3:49179400-49179800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:49179400-49179800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:49179400-49182600	Weak transcription	Thymus	Thymus
26	chr3:49179600-49179800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:49179800-49180000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:49179800-49182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:49179800-49187400	Weak transcription	Esophagus	oesophagus
30	chr3:49180000-49181000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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