Variant report

Variant	nsv581846
Chromosome Location	chr2:50913616-50950993
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	CEBPB	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
2	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
3	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
4	CHD2	chr2:50947884-50948198	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:50926700-50926850	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr2:50921817-50921990	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr2:50921991-50922399	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr2:50921826-50922674	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:50922039-50922391	SK-N-SH_RA	brain:	n/a	n/a
10	GATA2	chr2:50921825-50922521	SH-SY5Y	brain:	n/a	chr2:50922348-50922355 chr2:50922511-50922520 chr2:50922088-50922095 chr2:50922348-50922357 chr2:50922348-50922355 chr2:50922513-50922520 chr2:50922348-50922355
11	GATA3	chr2:50921928-50922446	SK-N-SH	brain:	n/a	chr2:50922348-50922355 chr2:50922088-50922095 chr2:50922348-50922357 chr2:50922348-50922355 chr2:50922348-50922355
12	GATA3	chr2:50921986-50922405	SK-N-SH	brain:	n/a	chr2:50922348-50922355 chr2:50922088-50922095 chr2:50922348-50922357 chr2:50922348-50922355 chr2:50922348-50922355
13	GATA3	chr2:50937725-50937784	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr2:50921511-50922419	SH-SY5Y	brain:	n/a	chr2:50922348-50922355 chr2:50922088-50922095 chr2:50922348-50922357 chr2:50922348-50922355 chr2:50922348-50922355
15	GTF2F1	chr2:50913937-50913967	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUN	chr2:50924719-50924858	HepG2	liver:	n/a	n/a
17	JUN	chr2:50919365-50919530	HepG2	liver:	n/a	chr2:50919401-50919414
18	JUND	chr2:50947907-50948258	H1-hESC	embryonic stem cell:	n/a	n/a
19	JUND	chr2:50924756-50924986	HepG2	liver:	n/a	n/a
20	JUND	chr2:50919334-50919530	HepG2	liver:	n/a	n/a
21	MAFF	chr2:50937605-50937875	HepG2	liver:	n/a	n/a
22	MAFF	chr2:50941815-50941954	HepG2	liver:	n/a	chr2:50941861-50941879
23	MAFK	chr2:50948081-50948357	H1-hESC	embryonic stem cell:	n/a	chr2:50948264-50948274
24	MAFK	chr2:50937571-50937855	HepG2	liver:	n/a	n/a
25	MAFK	chr2:50937624-50937910	HepG2	liver:	n/a	n/a
26	MAFK	chr2:50942811-50942865	HepG2	liver:	n/a	chr2:50942814-50942829
27	MAFK	chr2:50949371-50949617	HepG2	liver:	n/a	n/a
28	MAFK	chr2:50941823-50941980	HepG2	liver:	n/a	chr2:50941864-50941875 chr2:50941863-50941874 chr2:50941862-50941876 chr2:50941863-50941874
29	MAFK	chr2:50942803-50942844	HepG2	liver:	n/a	chr2:50942814-50942829
30	MYC	chr2:50943994-50944145	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:50947675-50948530	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr2:50937558-50937606	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:50932116-50932447	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr2:50940774-50940832	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr2:50914494-50914863	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr2:50931430-50931630	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr2:50915406-50915472	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr2:50950844-50950984	Gliobla	brain:	n/a	n/a
39	POLR2A	chr2:50943443-50943575	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr2:50936226-50936258	A549	lung:	n/a	n/a
41	POLR2A	chr2:50944361-50944526	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:50947601-50948543	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr2:50914437-50914812	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr2:50932136-50932479	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr2:50936947-50937018	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:50933603-50933725	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr2:50930438-50930634	MCF10A-Er-Src	breast:	n/a	n/a
48	REST	chr2:50947565-50948369	H1-neurons	neurons:	n/a	n/a
49	REST	chr2:50947230-50948787	H1-neurons	neurons:	n/a	n/a
50	RFX5	chr2:50937817-50937875	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216191	TF binding region

Extended variants
information (count: 1509 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1509 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11900164	chr2:50913616-50913617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571925324	chr2:50913625-50913626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150555075	chr2:50913667-50913668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183894670	chr2:50913675-50913676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139626633	chr2:50913734-50913735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187646462	chr2:50913753-50913754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11900221	chr2:50913760-50913761	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs78225701	chr2:50913811-50913812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530255140	chr2:50913836-50913837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544347937	chr2:50913839-50913840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558250954	chr2:50913865-50913866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577099101	chr2:50913873-50913874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540966543	chr2:50913877-50913878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72887530	chr2:50913894-50913895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191312748	chr2:50913944-50913945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373248517	chr2:50913945-50913946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376755742	chr2:50913985-50913986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183698338	chr2:50914067-50914068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561390952	chr2:50914083-50914084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531678321	chr2:50914106-50914107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550184833	chr2:50914111-50914112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571546367	chr2:50914166-50914167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532880348	chr2:50914169-50914170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550089223	chr2:50914178-50914179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547693747	chr2:50914190-50914191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565985699	chr2:50914207-50914208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537686983	chr2:50914225-50914226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554705457	chr2:50914242-50914243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370971377	chr2:50914291-50914292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188840950	chr2:50914303-50914304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570342888	chr2:50914307-50914308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191775670	chr2:50914334-50914335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532664864	chr2:50914340-50914341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185185811	chr2:50914344-50914345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553308018	chr2:50914359-50914360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551358321	chr2:50914364-50914365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574757790	chr2:50914410-50914411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542062637	chr2:50914458-50914459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375503548	chr2:50914474-50914475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563458731	chr2:50914479-50914480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs918808	chr2:50914485-50914486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190080090	chr2:50914518-50914519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543541564	chr2:50914570-50914571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565340048	chr2:50914585-50914586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532404828	chr2:50914629-50914630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371340334	chr2:50914635-50914636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533164152	chr2:50914648-50914649	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs556034252	chr2:50914650-50914651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182195943	chr2:50914668-50914669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs149756154	chr2:50914671-50914672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50913400-50914000	Enhancers	Brain Angular Gyrus	brain
2	chr2:50913400-50914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:50913600-50914800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:50913600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:50913600-50916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:50913800-50915800	Enhancers	Brain Anterior Caudate	brain
7	chr2:50913800-50916200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:50914000-50914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:50914000-50914200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:50914000-50914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:50914000-50917800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:50914200-50915200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:50914200-50916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:50914200-50918600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:50914400-50918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:50914600-50914800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:50914600-50914800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:50914600-50915200	Enhancers	Fetal Heart	heart
19	chr2:50914800-50915200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr2:50914800-50915200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr2:50914800-50915800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr2:50915000-50915200	Enhancers	Brain Substantia Nigra	brain
23	chr2:50915000-50915400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:50915000-50915600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:50915200-50915600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:50915200-50915800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:50915200-50916000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:50915600-50915800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:50915600-50916000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:50915600-50916200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr2:50915800-50917800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:50915800-50918600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:50915800-50918800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:50916000-50918600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:50916000-50918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:50916000-50948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:50916200-50923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:50917600-50917800	Enhancers	Brain Hippocampus Middle	brain
39	chr2:50917600-50918000	Weak transcription	Brain Substantia Nigra	brain
40	chr2:50917600-50918400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:50917800-50918400	Enhancers	Brain Angular Gyrus	brain
42	chr2:50917800-50918600	Enhancers	Brain Anterior Caudate	brain
43	chr2:50918000-50918200	Enhancers	Brain Substantia Nigra	brain
44	chr2:50918200-50918800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:50918400-50918600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:50918400-50918800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:50918400-50919200	Active TSS	Brain Angular Gyrus	brain
48	chr2:50918400-50919600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:50918600-50918800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:50918600-50919200	Enhancers	HUES48 Cell Line	embryonic stem cell

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