Variant report

Variant	esv1938423
Chromosome Location	chr1:93235923-93241505
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	chr1:93229641..93232894-chr1:93233646..93238232,4	K562	blood:

Extended variants
information (count: 223 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555070570	chr1:93235927-93235928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576559932	chr1:93235972-93235973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537254645	chr1:93235975-93235976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116489856	chr1:93236002-93236003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549770084	chr1:93236014-93236015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577107865	chr1:93236070-93236071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541362907	chr1:93236074-93236075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569997834	chr1:93236075-93236076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574389005	chr1:93236085-93236086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538987731	chr1:93236090-93236091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552863293	chr1:93236114-93236115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530560257	chr1:93236123-93236124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375521811	chr1:93236144-93236145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566229299	chr1:93236148-93236149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565165006	chr1:93236154-93236155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190058891	chr1:93236163-93236164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61800547	chr1:93236164-93236165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566217068	chr1:93236167-93236168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12737363	chr1:93236208-93236209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12758405	chr1:93236216-93236217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555197987	chr1:93236219-93236220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181623442	chr1:93236224-93236225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1182634	chr1:93236227-93236228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72956082	chr1:93236263-93236264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537586925	chr1:93236264-93236265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559069319	chr1:93236273-93236274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570692206	chr1:93236277-93236278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574589594	chr1:93236296-93236297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553253616	chr1:93236303-93236304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1182635	chr1:93236311-93236312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143048739	chr1:93236326-93236327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61800548	chr1:93236334-93236335	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556700075	chr1:93236339-93236340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545529073	chr1:93236356-93236357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576799285	chr1:93236370-93236371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369311907	chr1:93236377-93236378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377499492	chr1:93236381-93236382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545465731	chr1:93236524-93236525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563805096	chr1:93236598-93236599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141223417	chr1:93236665-93236666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541222165	chr1:93236673-93236674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560007175	chr1:93236712-93236713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201865668	chr1:93236797-93236798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373218574	chr1:93236804-93236805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530369074	chr1:93236845-93236846	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573051160	chr1:93236857-93236858	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558152575	chr1:93236892-93236893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10604466	chr1:93236974-93236975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548858785	chr1:93237008-93237009	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377436802	chr1:93237031-93237032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93211800-93249200	Weak transcription	Fetal Stomach	stomach
2	chr1:93214000-93240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:93214000-93248400	Weak transcription	Lung	lung
4	chr1:93222000-93248000	Weak transcription	HSMMtube	muscle
5	chr1:93222400-93240600	Weak transcription	Left Ventricle	heart
6	chr1:93222400-93248200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:93222400-93248200	Weak transcription	Fetal Intestine Large	intestine
8	chr1:93222400-93248400	Weak transcription	Placenta	Placenta
9	chr1:93222600-93246800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:93225600-93248000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:93226000-93249200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:93228000-93240600	Weak transcription	Pancreas	Pancrea
13	chr1:93231600-93236600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:93231600-93248000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:93233000-93240000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:93233400-93239000	Weak transcription	Ovary	ovary
17	chr1:93233800-93237000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:93234400-93245000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:93234400-93248000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:93234600-93240000	Weak transcription	HepG2	liver
21	chr1:93234600-93243200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:93234600-93248000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:93234800-93248200	Weak transcription	Primary B cells from cord blood	blood
24	chr1:93234800-93249200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:93235000-93248200	Weak transcription	NHLF	lung
26	chr1:93235200-93245600	Weak transcription	Right Ventricle	heart
27	chr1:93235200-93247200	Weak transcription	NHEK	skin
28	chr1:93235400-93239000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:93235600-93248000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:93235800-93239200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:93236200-93247800	Weak transcription	Hela-S3	cervix
32	chr1:93236600-93237200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:93236800-93237200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:93237000-93246200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:93237200-93240000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:93237200-93240000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:93237200-93243800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:93238800-93239000	Weak transcription	Brain Anterior Caudate	brain
39	chr1:93238800-93246800	Weak transcription	Gastric	stomach
40	chr1:93239000-93239200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:93239000-93239200	Enhancers	Brain Anterior Caudate	brain
42	chr1:93239000-93239200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:93239000-93239600	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:93239000-93239600	Enhancers	Ovary	ovary
45	chr1:93239200-93240400	Weak transcription	Brain Anterior Caudate	brain
46	chr1:93239200-93240400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:93239200-93240800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr1:93239200-93241000	Enhancers	Brain Angular Gyrus	brain
49	chr1:93239200-93241200	Enhancers	Brain Substantia Nigra	brain
50	chr1:93239200-93241600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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