Variant report

Variant	nsv961642
Chromosome Location	chr2:114369371-114378833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:114370957-114371184	GM12878	blood:	n/a	n/a
2	BATF	chr2:114371894-114372100	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:114377588-114377832	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:114378501-114378802	GM12878	blood:	n/a	n/a
5	BCL3	chr2:114378601-114378818	GM12878	blood:	n/a	n/a
6	CBX3	chr2:114374691-114375189	K562	blood:	n/a	n/a
7	CEBPD	chr2:114369257-114369760	K562	blood:	n/a	n/a
8	CTCF	chr2:114369480-114369671	K562	blood:	n/a	n/a
9	EBF1	chr2:114378531-114378731	GM12878	blood:	n/a	chr2:114378685-114378696
10	EP300	chr2:114378551-114378564	GM12878	blood:	n/a	n/a
11	EP300	chr2:114370988-114371330	GM12878	blood:	n/a	n/a
12	FOS	chr2:114378709-114378896	MCF10A-Er-Src	breast:	n/a	chr2:114378834-114378845 chr2:114378832-114378843
13	FOSL2	chr2:114370926-114371233	HepG2	liver:	n/a	n/a
14	FOSL2	chr2:114370983-114371312	HepG2	liver:	n/a	n/a
15	FOSL2	chr2:114374707-114375121	HepG2	liver:	n/a	n/a
16	GATA2	chr2:114371481-114372105	K562	blood:	n/a	n/a
17	GATA2	chr2:114374806-114375152	K562	blood:	n/a	n/a
18	GATA2	chr2:114369155-114369674	K562	blood:	n/a	n/a
19	HEY1	chr2:114369652-114369874	K562	blood:	n/a	n/a
20	HEY1	chr2:114371678-114372537	K562	blood:	n/a	n/a
21	HEY1	chr2:114371865-114372511	K562	blood:	n/a	n/a
22	HEY1	chr2:114371939-114372171	HepG2	liver:	n/a	n/a
23	HEY1	chr2:114371941-114372149	HepG2	liver:	n/a	n/a
24	IRF4	chr2:114375575-114375904	GM12878	blood:	n/a	n/a
25	JUND	chr2:114371931-114372172	HepG2	liver:	n/a	n/a
26	MYC	chr2:114378683-114378907	MCF10A-Er-Src	breast:	n/a	chr2:114378758-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378768 chr2:114378757-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378767
27	MYC	chr2:114378684-114378907	MCF10A-Er-Src	breast:	n/a	chr2:114378758-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378768 chr2:114378757-114378768 chr2:114378757-114378767 chr2:114378756-114378769 chr2:114378758-114378767
28	NR2F2	chr2:114369137-114369780	K562	blood:	n/a	n/a
29	NR2F2	chr2:114369260-114369656	K562	blood:	n/a	n/a
30	PAX5	chr2:114376989-114377514	GM12878	blood:	n/a	n/a
31	PAX5	chr2:114378409-114378858	GM12878	blood:	n/a	n/a
32	PAX5	chr2:114374606-114375057	GM12878	blood:	n/a	n/a
33	PAX5	chr2:114372297-114372485	GM12878	blood:	n/a	n/a
34	PBX3	chr2:114378572-114378690	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:114372597-114372765	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:114370926-114371206	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:114372535-114372717	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr2:114370823-114372853	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:114371930-114372117	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:114371926-114372154	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr2:114371889-114372228	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:114371514-114372367	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr2:114371460-114372520	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr2:114371580-114371826	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr2:114371850-114372471	H1-hESC	embryonic stem cell:	n/a	n/a
46	POU2F2	chr2:114376968-114377390	GM12878	blood:	n/a	n/a
47	POU2F2	chr2:114378453-114378965	GM12878	blood:	n/a	n/a
48	POU2F2	chr2:114374592-114375146	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:114373411-114373978	GM12878	blood:	n/a	n/a
50	POU2F2	chr2:114375661-114375800	GM12878	blood:	n/a	chr2:114375785-114375798 chr2:114375785-114375798 chr2:114375785-114375798

Variant related genes	Relation type
RPL23AP7	TF binding region

Extended variants
information (count: 173 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:173 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376192668	chr2:114369384-114369385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200284524	chr2:114369406-114369407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368627869	chr2:114369424-114369425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201361443	chr2:114369511-114369512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201090607	chr2:114369542-114369543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557053579	chr2:114369545-114369546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182711272	chr2:114369557-114369558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371958168	chr2:114369566-114369567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577028775	chr2:114369572-114369573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374990696	chr2:114369579-114369580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545989360	chr2:114369614-114369615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559613728	chr2:114369617-114369618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112337169	chr2:114369629-114369630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140430971	chr2:114369646-114369647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191797199	chr2:114369669-114369670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562021564	chr2:114369673-114369674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182940245	chr2:114369676-114369677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369828746	chr2:114369695-114369696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547519987	chr2:114369721-114369722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550166687	chr2:114369747-114369748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569789572	chr2:114369758-114369759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145906086	chr2:114369771-114369772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368676524	chr2:114369807-114369808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373861612	chr2:114369811-114369812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3982547	chr2:114369816-114369817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552337454	chr2:114369817-114369818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201486476	chr2:114369818-114369819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72611937	chr2:114369935-114369936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187573084	chr2:114369963-114369964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201924609	chr2:114370007-114370008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554916713	chr2:114370034-114370035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369987632	chr2:114370041-114370042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373412235	chr2:114370280-114370281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376593395	chr2:114370321-114370322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368859230	chr2:114370353-114370354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373418972	chr2:114370396-114370397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376399072	chr2:114370426-114370427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370699803	chr2:114370491-114370492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3997075	chr2:114370574-114370575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377638467	chr2:114370612-114370613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371281602	chr2:114370625-114370626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113402649	chr2:114370669-114370670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs58382347	chr2:114370677-114370678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568744509	chr2:114370704-114370705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377058062	chr2:114370853-114370854	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs574420516	chr2:114370905-114370906	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375891027	chr2:114370906-114370907	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62162381	chr2:114370922-114370923	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs536609060	chr2:114370925-114370926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs59627338	chr2:114370926-114370927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114361800-114369400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114361800-114372000	Weak transcription	NH-A	brain
3	chr2:114361800-114383000	Weak transcription	Fetal Lung	lung
4	chr2:114361800-114383000	Weak transcription	Right Ventricle	heart
5	chr2:114361800-114383600	Weak transcription	Liver	Liver
6	chr2:114361800-114383600	Weak transcription	Fetal Stomach	stomach
7	chr2:114362200-114380800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:114362200-114382800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114362200-114383000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:114362200-114383600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:114362600-114382800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:114362600-114383200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:114362800-114382800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:114367400-114383800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:114369400-114369800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:114369800-114383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:114372000-114372200	Enhancers	NH-A	brain
18	chr2:114375400-114383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:114376800-114383600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:114377000-114384200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:114377000-114384200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:114377800-114383000	Weak transcription	Fetal Thymus	thymus
23	chr2:114378000-114382600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:114378200-114383600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:114378200-114385600	Weak transcription	Spleen	Spleen
26	chr2:114378400-114383000	Weak transcription	Pancreas	Pancrea
27	chr2:114378400-114383000	Weak transcription	HepG2	liver
28	chr2:114378600-114383000	Weak transcription	Adipose Nuclei	Adipose
29	chr2:114378600-114383600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:114378600-114383600	Weak transcription	Brain Hippocampus Middle	brain

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