Variant report

Variant	esv2764189
Chromosome Location	chr1:70111889-70137513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70127107..70129282-chr1:70132209..70134675,3	K562	blood:
2	chr1:70121084..70123909-chr1:70126896..70129723,3	K562	blood:
3	chr1:70121084..70123909-chr1:70126896..70129723,3	K562	blood:
4	chr1:69984546..69987365-chr1:70114241..70116970,2	K562	blood:
5	chr1:70127107..70129282-chr1:70132209..70134675,3	K562	blood:

Extended variants
information (count: 910 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1264407	chr1:70111889-70111890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs1264408	chr1:70112036-70112037	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs78053504	chr1:70112052-70112053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538085896	chr1:70112191-70112192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557963322	chr1:70112266-70112267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571400910	chr1:70112288-70112289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189193042	chr1:70112412-70112413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75191805	chr1:70112426-70112427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576349902	chr1:70112434-70112435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573575833	chr1:70112446-70112447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542572180	chr1:70112447-70112448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66463673	chr1:70112480-70112481	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576327463	chr1:70112495-70112496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530163347	chr1:70112565-70112566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548263404	chr1:70112622-70112623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1264409	chr1:70112656-70112657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs193057674	chr1:70112673-70112674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371581823	chr1:70112707-70112708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184564545	chr1:70112715-70112716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541189305	chr1:70112786-70112787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113567128	chr1:70112837-70112838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561399911	chr1:70112854-70112855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189030389	chr1:70112862-70112863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574157650	chr1:70112864-70112865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139278163	chr1:70112973-70112974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141726319	chr1:70112995-70112996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192934430	chr1:70112999-70113000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551659452	chr1:70113036-70113037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571468933	chr1:70113038-70113039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533958997	chr1:70113105-70113106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553598540	chr1:70113143-70113144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183987639	chr1:70113153-70113154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535917781	chr1:70113191-70113192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147125218	chr1:70113193-70113194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575594725	chr1:70113221-70113222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545301672	chr1:70113240-70113241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188667273	chr1:70113247-70113248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552450862	chr1:70113302-70113303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572568784	chr1:70113309-70113310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138516375	chr1:70113313-70113314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561253355	chr1:70113368-70113369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55641051	chr1:70113410-70113411	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs141153714	chr1:70113531-70113532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563680645	chr1:70113544-70113545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1264410	chr1:70113550-70113551	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551718727	chr1:70113597-70113598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181730039	chr1:70113675-70113676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537512586	chr1:70113679-70113680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116821196	chr1:70113684-70113685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535131828	chr1:70113763-70113764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70106200-70126000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:70109800-70112400	Weak transcription	Fetal Brain Male	brain
3	chr1:70111000-70112400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:70111200-70112200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:70111200-70112200	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:70112200-70112400	Enhancers	Brain Anterior Caudate	brain
7	chr1:70112200-70112400	Enhancers	Pancreas	Pancrea
8	chr1:70112200-70112600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:70112200-70112600	Enhancers	Brain Angular Gyrus	brain
10	chr1:70112200-70112600	Enhancers	Brain Hippocampus Middle	brain
11	chr1:70112400-70112600	Enhancers	Fetal Brain Male	brain
12	chr1:70112400-70117400	Weak transcription	Pancreas	Pancrea
13	chr1:70112400-70126000	Weak transcription	Brain Anterior Caudate	brain
14	chr1:70112600-70114000	Weak transcription	Fetal Brain Male	brain
15	chr1:70112600-70114200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:70112600-70114400	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:70112800-70113000	Enhancers	Fetal Brain Female	brain
18	chr1:70113000-70115800	Enhancers	Primary T cells from cord blood	blood
19	chr1:70113200-70115000	Weak transcription	Fetal Brain Female	brain
20	chr1:70114000-70114200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:70114000-70114400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:70114000-70114400	Enhancers	Fetal Thymus	thymus
23	chr1:70114000-70114400	Enhancers	HMEC	breast
24	chr1:70114000-70114600	Enhancers	NHEK	skin
25	chr1:70114000-70115400	Enhancers	Fetal Brain Male	brain
26	chr1:70114200-70114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:70114200-70120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:70114400-70114600	Enhancers	Brain Hippocampus Middle	brain
29	chr1:70114600-70118200	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:70115000-70115800	Enhancers	Fetal Brain Female	brain
31	chr1:70115400-70116200	Enhancers	Placenta	Placenta
32	chr1:70115400-70117400	Weak transcription	Fetal Brain Male	brain
33	chr1:70115800-70116400	Active TSS	Fetal Brain Female	brain
34	chr1:70117200-70117400	Enhancers	Fetal Brain Female	brain
35	chr1:70117400-70117600	Enhancers	Fetal Brain Male	brain
36	chr1:70117400-70117800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:70117400-70117800	Enhancers	Fetal Heart	heart
38	chr1:70117400-70117800	ZNF genes & repeats	Pancreas	Pancrea
39	chr1:70122000-70124600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:70122200-70122600	Enhancers	Brain Angular Gyrus	brain
41	chr1:70122600-70126000	Weak transcription	Brain Angular Gyrus	brain
42	chr1:70122800-70124800	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:70123400-70125200	Enhancers	Primary T cells from cord blood	blood
44	chr1:70124000-70124800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:70124600-70124800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:70124600-70126800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:70124800-70125000	Enhancers	Brain Hippocampus Middle	brain
48	chr1:70124800-70126400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:70124800-70127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:70125000-70126000	Weak transcription	Brain Hippocampus Middle	brain

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