Variant report

Variant	esv3434125
Chromosome Location	chr1:78872980-78890985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 706 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs518834	chr1:78872987-78872988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562882932	chr1:78872996-78872997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375744197	chr1:78873032-78873033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111742636	chr1:78873046-78873047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369992998	chr1:78873059-78873060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538855	chr1:78873062-78873063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187646587	chr1:78873067-78873068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192855607	chr1:78873157-78873158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184654350	chr1:78873200-78873201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536352845	chr1:78873222-78873223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143317414	chr1:78873226-78873227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540676	chr1:78873258-78873259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549714533	chr1:78873261-78873262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568070069	chr1:78873294-78873295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs521636	chr1:78873301-78873302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539283701	chr1:78873302-78873303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554043684	chr1:78873309-78873310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375302613	chr1:78873400-78873401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565627027	chr1:78873432-78873433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs523464	chr1:78873508-78873509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188840562	chr1:78873526-78873527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181592494	chr1:78873606-78873607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151305934	chr1:78873634-78873635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184547032	chr1:78873707-78873708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138596000	chr1:78873825-78873826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574788024	chr1:78873837-78873838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116176035	chr1:78873851-78873852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370869524	chr1:78873888-78873889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371316364	chr1:78873913-78873914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558801920	chr1:78873915-78873916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560814962	chr1:78873922-78873923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376017661	chr1:78873950-78873951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189317122	chr1:78874038-78874039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546455967	chr1:78874070-78874071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200184885	chr1:78874071-78874072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111633792	chr1:78874082-78874083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182192965	chr1:78874120-78874121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531785149	chr1:78874127-78874128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140699815	chr1:78874148-78874149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561588257	chr1:78874158-78874159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528924116	chr1:78874177-78874178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546984648	chr1:78874180-78874181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185980403	chr1:78874218-78874219	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539330002	chr1:78874238-78874239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551225910	chr1:78874357-78874358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569533201	chr1:78874383-78874384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189092543	chr1:78874423-78874424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556660565	chr1:78874505-78874506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114823540	chr1:78874539-78874540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs145885332	chr1:78874551-78874552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78862400-78874600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:78868200-78879600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:78873400-78874200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:78873400-78875400	Enhancers	NHDF-Ad	bronchial
5	chr1:78873800-78874800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:78874200-78874600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78874200-78875000	Enhancers	Osteobl	bone
8	chr1:78874200-78875200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:78874400-78874800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:78874400-78875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:78874600-78875000	Enhancers	Fetal Muscle Leg	muscle
12	chr1:78874600-78875200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:78874600-78875400	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:78874600-78875600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:78875000-78875600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:78875400-78875600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:78875600-78876400	ZNF genes & repeats	Fetal Muscle Leg	muscle
18	chr1:78875600-78876600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
19	chr1:78878600-78879200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:78878600-78880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:78879000-78879600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:78879000-78879600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:78879200-78879400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr1:78879400-78880000	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:78879600-78879800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:78879600-78880000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:78879600-78880200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:78879600-78880600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:78879800-78884800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:78880000-78880600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:78880000-78881000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:78880400-78881000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:78880600-78880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:78880600-78892000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:78881000-78884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:78882400-78882600	Enhancers	NHDF-Ad	bronchial
37	chr1:78882600-78883800	Weak transcription	NHDF-Ad	bronchial
38	chr1:78883800-78884200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:78883800-78884800	Enhancers	NHDF-Ad	bronchial
40	chr1:78884200-78884400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:78884400-78884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:78884600-78884800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:78884600-78884800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:78884600-78885400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:78884800-78885000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:78884800-78885000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:78884800-78885200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:78884800-78885200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:78884800-78885200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr1:78884800-78885400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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