Variant report

Variant	esv2762811
Chromosome Location	chr2:128029503-128030879
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128023731..128026474-chr2:128028520..128030504,2	K562	blood:
2	chr2:128030778..128035283-chr2:128048851..128054589,4	K562	blood:
3	chr2:128028882..128030644-chr2:128045597..128047110,2	K562	blood:
4	chr2:128027705..128030035-chr2:128032248..128034567,3	K562	blood:

Variant related genes	Relation type
ENSG00000163161	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4150496	chr2:128029503-128029504	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188366772	chr2:128029514-128029515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139855350	chr2:128029559-128029560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368798760	chr2:128029583-128029584	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59921131	chr2:128029584-128029585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546241024	chr2:128029617-128029618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4150495	chr2:128029625-128029626	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4150494	chr2:128029628-128029629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551751886	chr2:128029675-128029676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145311879	chr2:128029677-128029678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367595896	chr2:128029683-128029684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192798591	chr2:128029685-128029686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184433385	chr2:128029686-128029687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11693518	chr2:128029697-128029698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4150493	chr2:128029729-128029730	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142433055	chr2:128029741-128029742	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189307472	chr2:128029745-128029746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182293241	chr2:128029746-128029747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4150492	chr2:128029789-128029790	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs575132610	chr2:128029827-128029828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575910377	chr2:128029835-128029836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4150491	chr2:128029836-128029837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561533882	chr2:128029837-128029838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186341094	chr2:128029838-128029839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13427350	chr2:128029848-128029849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559861864	chr2:128029899-128029900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189520573	chr2:128029980-128029981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181462169	chr2:128029987-128029988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574090011	chr2:128029993-128029994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4150490	chr2:128030037-128030038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4150489	chr2:128030078-128030079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186095873	chr2:128030079-128030080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548145815	chr2:128030165-128030166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4150488	chr2:128030174-128030175	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534029595	chr2:128030177-128030178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553991270	chr2:128030203-128030204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62157509	chr2:128030228-128030229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559972582	chr2:128030301-128030302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576845694	chr2:128030319-128030320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4150487	chr2:128030377-128030378	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs55790121	chr2:128030385-128030386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369771802	chr2:128030425-128030426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371972918	chr2:128030429-128030430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539101457	chr2:128030457-128030458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558933296	chr2:128030522-128030523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147061557	chr2:128030525-128030526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13428173	chr2:128030528-128030529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538547523	chr2:128030564-128030565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374683872	chr2:128030565-128030566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190221657	chr2:128030569-128030570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
5	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:128023400-128050400	Strong transcription	Liver	Liver
8	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:128024200-128032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
12	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
16	chr2:128024400-128032600	Strong transcription	HSMMtube	muscle
17	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:128024400-128038400	Strong transcription	Ovary	ovary
19	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
32	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
33	chr2:128024600-128031000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:128024600-128033600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:128024600-128033600	Strong transcription	Colon Smooth Muscle	Colon
36	chr2:128024600-128034000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:128024600-128036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:128024600-128038200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:128024600-128038600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:128024600-128039800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:128024600-128040400	Strong transcription	NH-A	brain
42	chr2:128024600-128040800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:128024600-128040800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:128024600-128040800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain
48	chr2:128024600-128041000	Strong transcription	A549	lung
49	chr2:128024600-128041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:128024600-128049200	Strong transcription	Dnd41	blood

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