Variant report

Variant	esv1810725
Chromosome Location	chr1:62441788-62452173
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	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:
2	chr1:62444307..62446951-chr1:62447722..62450460,2	K562	blood:

Extended variants
information (count: 447 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11801995	chr1:62441788-62441789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs116525773	chr1:62441803-62441804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116076164	chr1:62441804-62441805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192458075	chr1:62441834-62441835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79542647	chr1:62441937-62441938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75867252	chr1:62441965-62441966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs80107868	chr1:62441973-62441974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527691458	chr1:62441975-62441976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs386631721	chr1:62441996-62441997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112482170	chr1:62441997-62441998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11810455	chr1:62441998-62441999	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs78957648	chr1:62442025-62442026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185062180	chr1:62442057-62442058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146648224	chr1:62442076-62442077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530245930	chr1:62442101-62442102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141348487	chr1:62442110-62442111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570082254	chr1:62442112-62442113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145110916	chr1:62442115-62442116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372655320	chr1:62442148-62442149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188946389	chr1:62442198-62442199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112813317	chr1:62442219-62442220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145740541	chr1:62442226-62442227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553957393	chr1:62442264-62442265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192157593	chr1:62442272-62442273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113395818	chr1:62442274-62442275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554100506	chr1:62442296-62442297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575634009	chr1:62442306-62442307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74980532	chr1:62442368-62442369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76924556	chr1:62442393-62442394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74665917	chr1:62442425-62442426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148959530	chr1:62442450-62442451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74860277	chr1:62442457-62442458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2498972	chr1:62442549-62442550	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537233248	chr1:62442596-62442597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542354196	chr1:62442742-62442743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563629652	chr1:62442767-62442768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530927901	chr1:62442789-62442790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184575170	chr1:62442846-62442847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148082225	chr1:62442876-62442877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113213279	chr1:62442885-62442886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547239860	chr1:62442886-62442887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35899620	chr1:62442897-62442898	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535895590	chr1:62442927-62442928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189801886	chr1:62442929-62442930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181450630	chr1:62443068-62443069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533870388	chr1:62443078-62443079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138931510	chr1:62443092-62443093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577440452	chr1:62443115-62443116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56147481	chr1:62443117-62443118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185993408	chr1:62443167-62443168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
6	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:62418200-62446400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:62419600-62445800	Weak transcription	Left Ventricle	heart
9	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
10	chr1:62430600-62442200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:62433600-62456800	Weak transcription	NHEK	skin
12	chr1:62433800-62444800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:62433800-62445400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:62434000-62457000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:62434800-62444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:62438600-62445000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:62440400-62457000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:62440600-62442000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:62440800-62441800	Enhancers	Psoas Muscle	Psoas
20	chr1:62440800-62457000	Weak transcription	Liver	Liver
21	chr1:62441000-62441800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:62441200-62442000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:62441400-62441800	Enhancers	Stomach Mucosa	stomach
24	chr1:62441400-62459800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:62441600-62442000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:62441600-62445400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:62441600-62446800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:62441600-62447600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:62441600-62455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:62441800-62445400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:62441800-62445400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:62442000-62444400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:62442000-62445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:62442000-62458400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:62442200-62444200	Strong transcription	Fetal Intestine Small	intestine
36	chr1:62444200-62479200	Weak transcription	Fetal Intestine Small	intestine
37	chr1:62444400-62445000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:62444600-62444800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:62444800-62446000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:62444800-62446200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:62445000-62446000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:62445000-62446000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:62445000-62446200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:62445000-62446800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:62445400-62445600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr1:62445400-62445800	Enhancers	K562	blood
47	chr1:62445400-62446600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:62445400-62447000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:62445400-62447000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr1:62445400-62447000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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