Variant report

Variant	nsv874036
Chromosome Location	chr2:50885859-50925910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

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	chr2:50890728-50891191	HepG2	liver:	n/a	chr2:50890749-50890760 chr2:50891044-50891055
3	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
4	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
5	CTCF	chr2:50902140-50902290	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr2:50902100-50902250	GM12872	blood:	n/a	n/a
7	CTCF	chr2:50902060-50902290	GM12864	blood:	n/a	n/a
8	CTCF	chr2:50902100-50902250	GM12874	blood:	n/a	n/a
9	CTCF	chr2:50902046-50902364	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:50902100-50902250	HCPEpiC	choroid plexus:	n/a	n/a
11	CTCF	chr2:50902081-50902284	HepG2	liver:	n/a	n/a
12	CTCF	chr2:50902100-50902250	GM12864	blood:	n/a	n/a
13	CTCF	chr2:50902128-50902354	IMR90	lung:	n/a	n/a
14	CTCF	chr2:50902120-50902270	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:50902100-50902250	GM12865	blood:	n/a	n/a
16	CTCF	chr2:50889598-50889668	NHEK	skin:	n/a	n/a
17	CTCF	chr2:50902138-50902315	NHEK	skin:	n/a	n/a
18	CTCF	chr2:50902180-50902330	GM12878	blood:	n/a	n/a
19	CTCF	chr2:50902120-50902270	K562	blood:	n/a	n/a
20	CTCF	chr2:50902154-50902311	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:50902100-50902250	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr2:50902140-50902290	GM12872	blood:	n/a	n/a
23	CTCF	chr2:50889610-50889663	GM12891	blood:	n/a	n/a
24	CTCF	chr2:50902180-50902330	HA-sp	spinal cord:	n/a	n/a
25	CTCF	chr2:50902080-50902230	GM12869	blood:	n/a	n/a
26	CTCF	chr2:50902120-50902270	GM12878	blood:	n/a	n/a
27	CTCF	chr2:50902124-50902313	A549	lung:	n/a	n/a
28	CTCF	chr2:50902200-50902350	HRE	kidney:	n/a	n/a
29	CTCF	chr2:50889625-50889634	Gliobla	brain:	n/a	n/a
30	CTCF	chr2:50889605-50889670	MCF-7	breast:	n/a	n/a
31	CTCF	chr2:50902100-50902250	HepG2	liver:	n/a	n/a
32	CTCF	chr2:50902091-50902331	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:50889603-50889665	GM19240	blood:	n/a	n/a
34	CTCF	chr2:50906100-50906250	GM12864	blood:	n/a	n/a
35	CTCF	chr2:50902200-50902350	HCFaa	heart:	n/a	n/a
36	CTCF	chr2:50902163-50902293	Gliobla	brain:	n/a	n/a
37	CTCF	chr2:50902116-50902324	GM12892	blood:	n/a	n/a
38	CTCF	chr2:50902100-50902250	BE2_C	brain:	n/a	n/a
39	CTCF	chr2:50902140-50902290	GM12871	blood:	n/a	n/a
40	CTCF	chr2:50902140-50902290	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr2:50902080-50902230	NHEK	skin:	n/a	n/a
42	CTCF	chr2:50902013-50902311	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr2:50902119-50902292	GM19240	blood:	n/a	n/a
44	CTCF	chr2:50902140-50902290	NB4	blood:	n/a	n/a
45	CTCF	chr2:50902140-50902290	GM06990	blood:	n/a	n/a
46	CTCF	chr2:50902139-50902314	GM12891	blood:	n/a	n/a
47	CTCF	chr2:50902100-50902250	SAEC	small airway:	n/a	n/a
48	CTCF	chr2:50901960-50902110	RPTEC	kidney:	n/a	n/a
49	CTCF	chr2:50902200-50902350	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr2:50902080-50902230	GM12875	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:
2	chr2:50883231..50884999-chr2:50887642..50889397,2	MCF-7	breast:
3	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
4	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
5	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216191	TF binding region
NRXN1	TF binding region
ENSG00000216191	chromatin interactions
ENSG00000179915	chromatin interactions

Extended variants
information (count: 1245 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs990590	chr2:50885859-50885860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143819188	chr2:50885871-50885872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34363213	chr2:50885877-50885878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558413213	chr2:50885925-50885926	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561081054	chr2:50885965-50885966	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs117271498	chr2:50885985-50885986	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534398164	chr2:50885987-50885988	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146832815	chr2:50886024-50886025	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374905568	chr2:50886039-50886040	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530098444	chr2:50886045-50886046	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573787918	chr2:50886203-50886204	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544298766	chr2:50886235-50886236	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs186787507	chr2:50886259-50886260	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192717063	chr2:50886271-50886272	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140721417	chr2:50886286-50886287	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs80344876	chr2:50886307-50886308	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569865131	chr2:50886351-50886352	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184715199	chr2:50886410-50886411	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs190044807	chr2:50886417-50886418	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs367571057	chr2:50886426-50886427	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs542817989	chr2:50886487-50886488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138371770	chr2:50886587-50886588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77880990	chr2:50886597-50886598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78714023	chr2:50886598-50886599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs193052029	chr2:50886603-50886604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550624649	chr2:50886653-50886654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150071573	chr2:50886663-50886664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562576819	chr2:50886726-50886727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552873383	chr2:50886741-50886742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568979410	chr2:50886744-50886745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536041854	chr2:50886828-50886829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555703053	chr2:50886869-50886870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533338130	chr2:50886874-50886875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62142356	chr2:50886885-50886886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34143836	chr2:50886915-50886916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566240502	chr2:50886960-50886961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145404487	chr2:50886975-50886976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35057296	chr2:50886982-50886983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551832255	chr2:50887001-50887002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148832315	chr2:50887013-50887014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143438871	chr2:50887026-50887027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536170328	chr2:50887028-50887029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34319171	chr2:50887058-50887059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567827385	chr2:50887073-50887074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72837007	chr2:50887121-50887122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553786815	chr2:50887177-50887178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573802591	chr2:50887185-50887186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556275427	chr2:50887187-50887188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550568334	chr2:50887215-50887216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577614634	chr2:50887219-50887220	Weak transcription	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50879800-50888600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:50884400-50886800	Enhancers	NHEK	skin
3	chr2:50884600-50886400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:50885000-50886400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:50885000-50888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:50885200-50888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:50885400-50886400	Enhancers	HMEC	breast
8	chr2:50885600-50886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:50885800-50886400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:50885800-50886400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:50886000-50886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:50886000-50886400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:50886200-50888600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:50886400-50890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:50886800-50890600	Weak transcription	NHEK	skin
16	chr2:50888400-50890800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:50888600-50889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:50888600-50889400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:50888600-50889600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:50888600-50890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:50889000-50889200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:50889000-50889400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:50889400-50890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:50890400-50890800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:50890400-50899200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:50890600-50891400	Enhancers	NHEK	skin
27	chr2:50890800-50891000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:50890800-50895000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:50894800-50895800	Enhancers	Brain Angular Gyrus	brain
30	chr2:50895000-50895200	Enhancers	Brain Germinal Matrix	brain
31	chr2:50895000-50895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:50895000-50895800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:50895200-50896200	Enhancers	Brain Substantia Nigra	brain
34	chr2:50895600-50896000	Enhancers	Brain Cingulate Gyrus	brain
35	chr2:50895800-50896000	Enhancers	Brain Germinal Matrix	brain
36	chr2:50896000-50896400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:50899200-50899600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:50899200-50899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:50899600-50899800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:50904200-50904600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:50905400-50905800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:50905600-50906200	Enhancers	Brain Anterior Caudate	brain
43	chr2:50905800-50906200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:50913400-50914000	Enhancers	Brain Angular Gyrus	brain
45	chr2:50913400-50914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:50913600-50914800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:50913600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:50913600-50916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr2:50913800-50915800	Enhancers	Brain Anterior Caudate	brain
50	chr2:50913800-50916200	Enhancers	H1 Cell Line	embryonic stem cell

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