Variant report

Variant	esv2754325
Chromosome Location	chr2:33524956-33527587
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	chr2:33527570-33527587	A549	lung:	n/a	chr2:33527571-33527584
2	NRF1	chr2:33526369-33526470	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:33525343-33525352	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr2:33526997-33527544	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33514697..33516578-chr2:33527291..33531093,3	MCF-7	breast:
2	chr2:33521500..33523864-chr2:33524061..33525573,2	K562	blood:

Variant related genes	Relation type
LTBP1	TF binding region
ENSG00000049323	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3754830	chr2:33524956-33524957	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561427280	chr2:33524999-33525000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202095176	chr2:33525008-33525009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543729768	chr2:33525030-33525031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563310502	chr2:33525031-33525032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74570389	chr2:33525034-33525035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551731506	chr2:33525049-33525050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371430492	chr2:33525055-33525056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565481809	chr2:33525059-33525060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375959070	chr2:33525082-33525083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547993396	chr2:33525138-33525139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567870302	chr2:33525168-33525169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139316063	chr2:33525193-33525194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188435677	chr2:33525194-33525195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs367706212	chr2:33525198-33525199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79907586	chr2:33525200-33525201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201260923	chr2:33525202-33525203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538686843	chr2:33525218-33525219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376803306	chr2:33525290-33525291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150016521	chr2:33525361-33525362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115582857	chr2:33525366-33525367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs935996	chr2:33525382-33525383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113454583	chr2:33525394-33525395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2123769	chr2:33525407-33525408	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370560729	chr2:33525474-33525475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375178798	chr2:33525521-33525522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368370804	chr2:33525530-33525531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563852811	chr2:33525555-33525556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114595076	chr2:33525558-33525559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545431252	chr2:33525571-33525572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139759776	chr2:33525573-33525574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148779103	chr2:33525574-33525575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367612621	chr2:33525577-33525578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151280632	chr2:33525588-33525589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74990388	chr2:33525592-33525593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139837372	chr2:33525618-33525619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147838037	chr2:33525631-33525632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144993306	chr2:33525632-33525633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375703081	chr2:33525640-33525641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115318763	chr2:33525652-33525653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147267969	chr2:33525694-33525695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116033587	chr2:33525701-33525702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539736072	chr2:33525704-33525705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558994618	chr2:33525715-33525716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75941786	chr2:33525726-33525727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180858681	chr2:33525771-33525772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570278000	chr2:33525876-33525877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536447563	chr2:33525880-33525881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553259864	chr2:33525992-33525993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185800442	chr2:33525993-33525994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:33505000-33526200	Weak transcription	Placenta	Placenta
5	chr2:33507000-33528600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:33517000-33525400	Weak transcription	Right Ventricle	heart
7	chr2:33517000-33526600	Weak transcription	Fetal Stomach	stomach
8	chr2:33517000-33528800	Weak transcription	Psoas Muscle	Psoas
9	chr2:33517000-33529200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:33517000-33529400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:33517000-33529600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:33517200-33525800	Weak transcription	Liver	Liver
13	chr2:33517200-33533000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:33517200-33533200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:33517200-33537400	Weak transcription	Fetal Brain Male	brain
16	chr2:33517200-33545000	Weak transcription	Fetal Kidney	kidney
17	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
18	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:33517600-33532600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:33517600-33532800	Weak transcription	Brain Anterior Caudate	brain
21	chr2:33517800-33543400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:33521400-33525400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:33521800-33525800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:33522200-33526200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr2:33522400-33527200	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:33522800-33525400	Weak transcription	Left Ventricle	heart
27	chr2:33522800-33526600	Weak transcription	Aorta	Aorta
28	chr2:33523200-33525400	Weak transcription	NHLF	lung
29	chr2:33523200-33529400	Weak transcription	HUVEC	blood vessel
30	chr2:33523400-33527200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:33523400-33528800	Weak transcription	Ovary	ovary
32	chr2:33523400-33532600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:33523400-33545200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:33523600-33525000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:33523600-33526200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:33523600-33528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:33523600-33529400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:33523600-33529400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:33523600-33546200	Weak transcription	K562	blood
40	chr2:33523800-33525200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:33523800-33526600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:33523800-33526600	Weak transcription	Fetal Heart	heart
43	chr2:33523800-33529000	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:33523800-33536400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:33524200-33529400	Weak transcription	HSMMtube	muscle
47	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
48	chr2:33524400-33527400	Strong transcription	NHDF-Ad	bronchial
49	chr2:33524600-33527000	Strong transcription	NH-A	brain
50	chr2:33524600-33530000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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