Variant report

Variant	esv2555384
Chromosome Location	chr1:70767423-70768865
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	chr1:70696137..70698622-chr1:70765060..70767562,2	K562	blood:

Variant related genes	Relation type
ENSG00000116754	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559042196	chr1:70767447-70767448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528126430	chr1:70767496-70767497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531077347	chr1:70767511-70767512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375979036	chr1:70767544-70767545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141744475	chr1:70767550-70767551	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193114796	chr1:70767566-70767567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183411171	chr1:70767623-70767624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552950287	chr1:70767689-70767690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550881174	chr1:70767691-70767692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570642387	chr1:70767746-70767747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532555542	chr1:70767768-70767769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571148417	chr1:70767812-70767813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552261414	chr1:70767896-70767897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528529189	chr1:70767915-70767916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546655073	chr1:70767955-70767956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147114365	chr1:70767995-70767996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76197120	chr1:70767999-70768000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535079409	chr1:70768001-70768002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548697541	chr1:70768003-70768004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577534911	chr1:70768009-70768010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147734289	chr1:70768062-70768063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537231477	chr1:70768108-70768109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557648349	chr1:70768126-70768127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376318377	chr1:70768127-70768128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577434798	chr1:70768128-70768129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539420209	chr1:70768129-70768130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552507682	chr1:70768130-70768131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572492839	chr1:70768131-70768132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12140194	chr1:70768176-70768177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs377682043	chr1:70768223-70768224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575432364	chr1:70768269-70768270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187683829	chr1:70768272-70768273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564428565	chr1:70768315-70768316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533032167	chr1:70768330-70768331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375481701	chr1:70768409-70768410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201799680	chr1:70768434-70768435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12730737	chr1:70768438-70768439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11584640	chr1:70768455-70768456	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs191438213	chr1:70768482-70768483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528472980	chr1:70768507-70768508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202161368	chr1:70768573-70768574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548733173	chr1:70768612-70768613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568531316	chr1:70768632-70768633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537671541	chr1:70768692-70768693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150292121	chr1:70768716-70768717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539241005	chr1:70768763-70768764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76765633	chr1:70768781-70768782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557667366	chr1:70768816-70768817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370257096	chr1:70768828-70768829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539782204	chr1:70768831-70768832	Weak transcription Strong 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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70688000-70819200	Weak transcription	Esophagus	oesophagus
2	chr1:70715600-70767800	Weak transcription	Small Intestine	intestine
3	chr1:70715800-70771000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:70716000-70775600	Weak transcription	Spleen	Spleen
5	chr1:70716200-70775200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:70716800-70769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:70716800-70769400	Weak transcription	Right Ventricle	heart
8	chr1:70716800-70815800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:70717600-70780400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:70717800-70788200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:70719200-70783800	Weak transcription	A549	lung
12	chr1:70733800-70773400	Weak transcription	Fetal Kidney	kidney
13	chr1:70734000-70769600	Weak transcription	Pancreas	Pancrea
14	chr1:70734000-70786000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:70734400-70786000	Weak transcription	Psoas Muscle	Psoas
16	chr1:70734400-70813000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:70744800-70768400	Weak transcription	Stomach Mucosa	stomach
18	chr1:70747000-70769400	Weak transcription	Fetal Heart	heart
19	chr1:70750000-70771800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:70752400-70767800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:70752800-70793400	Weak transcription	Gastric	stomach
22	chr1:70753600-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:70753600-70768800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:70753600-70769000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:70754200-70768800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:70754200-70780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:70754400-70767600	Strong transcription	Dnd41	blood
28	chr1:70754400-70767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:70754600-70775400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:70755600-70768800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:70755800-70775400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:70757000-70769200	Weak transcription	Colonic Mucosa	Colon
33	chr1:70757000-70799800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:70757400-70768800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:70757400-70813200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr1:70757800-70786000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:70757800-70799400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:70757800-70812400	Weak transcription	Fetal Brain Male	brain
39	chr1:70759200-70768800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:70759400-70767800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:70759400-70785400	Weak transcription	HMEC	breast
42	chr1:70760200-70799800	Weak transcription	Lung	lung
43	chr1:70760400-70802400	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:70760400-70813200	Weak transcription	Fetal Brain Female	brain
45	chr1:70760600-70769800	Weak transcription	Fetal Intestine Small	intestine
46	chr1:70760600-70772600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr1:70760600-70773200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:70760600-70776400	Weak transcription	Left Ventricle	heart
49	chr1:70760600-70783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:70760600-70818200	Weak transcription	Aorta	Aorta

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