Variant report

Variant	nsv1011433
Chromosome Location	chr2:54351145-54424601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:369)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
2	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
3	BHLHE40	chr2:54403754-54404040	HepG2	liver:	n/a	n/a
4	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
5	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
6	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
7	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:54376796-54377077	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
11	CEBPB	chr2:54370917-54371309	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:54409404-54409606	HepG2	liver:	n/a	chr2:54409533-54409544
13	CEBPB	chr2:54409404-54409694	A549	lung:	n/a	chr2:54409533-54409544
14	CEBPB	chr2:54414462-54414786	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:54414408-54414822	HepG2	liver:	n/a	n/a
16	CEBPB	chr2:54409366-54409644	HepG2	liver:	n/a	chr2:54409533-54409544
17	CEBPB	chr2:54399582-54399619	A549	lung:	n/a	n/a
18	CEBPB	chr2:54414536-54414706	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:54409363-54409710	HepG2	liver:	n/a	chr2:54409533-54409544
20	CEBPB	chr2:54409383-54409679	IMR90	lung:	n/a	chr2:54409533-54409544
21	CEBPB	chr2:54409404-54409706	K562	blood:	n/a	chr2:54409533-54409544
22	CEBPB	chr2:54353992-54354196	K562	blood:	n/a	n/a
23	CEBPB	chr2:54414474-54414822	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:54409486-54409686	H1-hESC	embryonic stem cell:	n/a	chr2:54409533-54409544
25	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
26	CEBPB	chr2:54409410-54409681	MCF-7	breast:	n/a	chr2:54409533-54409544
27	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
29	CEBPB	chr2:54376820-54377110	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:54409455-54409684	Hela-S3	cervix:	n/a	chr2:54409533-54409544
31	CEBPB	chr2:54376798-54377061	A549	lung:	n/a	n/a
32	CTCF	chr2:54403800-54403950	GM06990	blood:	n/a	n/a
33	CTCF	chr2:54403816-54403990	A549	lung:	n/a	n/a
34	CTCF	chr2:54403840-54403990	HepG2	liver:	n/a	n/a
35	CTCF	chr2:54403840-54403990	AG10803	skin:	n/a	n/a
36	CTCF	chr2:54403860-54404010	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr2:54388740-54388890	BJ	skin:	n/a	n/a
38	CTCF	chr2:54388600-54388750	AG10803	skin:	n/a	n/a
39	CTCF	chr2:54403789-54403988	GM19238	blood:	n/a	n/a
40	CTCF	chr2:54403706-54404109	HepG2	liver:	n/a	n/a
41	CTCF	chr2:54403868-54403940	GM10248	blood:	n/a	n/a
42	CTCF	chr2:54403820-54403970	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr2:54388920-54389070	AG09319	gingival:	n/a	chr2:54388999-54389020
44	CTCF	chr2:54403820-54403970	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr2:54403766-54404031	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:54403840-54403990	SAEC	small airway:	n/a	n/a
47	CTCF	chr2:54403820-54403970	BJ	skin:	n/a	n/a
48	CTCF	chr2:54403840-54403990	GM12874	blood:	n/a	n/a
49	CTCF	chr2:54403709-54404101	IMR90	lung:	n/a	n/a
50	CTCF	chr2:54403694-54404099	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
2	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
3	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
4	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
5	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
6	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
7	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
8	chr2:54341229..54346589-chr2:54385136..54390434,5	MCF-7	breast:
9	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
10	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
11	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
12	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
13	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
14	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
15	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
16	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
17	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
18	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:
19	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
20	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
21	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:

No data

Variant related genes	Relation type
RNU7-172P	TF binding region
ENSG00000170634	chromatin interactions

Extended variants
information (count: 3219 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3219 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533634919	chr2:54351164-54351165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540284555	chr2:54351174-54351175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147488773	chr2:54351200-54351201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13421534	chr2:54351231-54351232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549484610	chr2:54351318-54351319	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567447940	chr2:54351355-54351356	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568304621	chr2:54351364-54351365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530724290	chr2:54351393-54351394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550700700	chr2:54351394-54351395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7586755	chr2:54351407-54351408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs372870947	chr2:54351409-54351410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539683690	chr2:54351417-54351418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536085450	chr2:54351419-54351420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186411305	chr2:54351433-54351434	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546634189	chr2:54351457-54351458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566108737	chr2:54351472-54351473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535207895	chr2:54351486-54351487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549577496	chr2:54351491-54351492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569482839	chr2:54351521-54351522	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555035687	chr2:54351522-54351523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375845794	chr2:54351539-54351540	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189242944	chr2:54351558-54351559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs181614428	chr2:54351560-54351561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186607924	chr2:54351561-54351562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540900775	chr2:54351584-54351585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560508099	chr2:54351636-54351637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529298377	chr2:54351681-54351682	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs149985232	chr2:54351714-54351715	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146665352	chr2:54351737-54351738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs531787911	chr2:54351760-54351761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs13384747	chr2:54351844-54351845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138583600	chr2:54351861-54351862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535119396	chr2:54351873-54351874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs28559613	chr2:54351901-54351902	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575035047	chr2:54351920-54351921	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544088719	chr2:54351925-54351926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191469777	chr2:54351951-54351952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145402422	chr2:54351959-54351960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535079771	chr2:54351960-54351961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568999462	chr2:54351971-54351972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs554902875	chr2:54351986-54351987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369909259	chr2:54351992-54351993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568628372	chr2:54352009-54352010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537919389	chr2:54352011-54352012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558097882	chr2:54352017-54352018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553260777	chr2:54352052-54352053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182795166	chr2:54352080-54352081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540612547	chr2:54352096-54352097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6756174	chr2:54352109-54352110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs142391470	chr2:54352119-54352120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
2	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:54348200-54353600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:54348400-54351200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:54348400-54361800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:54348600-54362200	Weak transcription	Liver	Liver
8	chr2:54348600-54365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:54348600-54365800	Weak transcription	Left Ventricle	heart
10	chr2:54348800-54362000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:54349000-54352400	Enhancers	NHEK	skin
12	chr2:54349000-54352600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:54349200-54366000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:54349400-54360200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54349800-54351200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:54350000-54365800	Weak transcription	Psoas Muscle	Psoas
17	chr2:54350400-54352400	Enhancers	HepG2	liver
18	chr2:54350400-54365800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:54350600-54351800	Weak transcription	K562	blood
20	chr2:54350600-54352200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
22	chr2:54350800-54351200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:54350800-54351200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:54350800-54351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:54350800-54351200	Enhancers	NH-A	brain
26	chr2:54350800-54351200	Enhancers	NHDF-Ad	bronchial
27	chr2:54350800-54351200	Enhancers	Osteobl	bone
28	chr2:54350800-54351800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:54350800-54352200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:54351000-54351200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:54351000-54351200	Weak transcription	Right Ventricle	heart
32	chr2:54351000-54351200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:54351000-54351200	Enhancers	HSMMtube	muscle
34	chr2:54351000-54351400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:54351000-54352200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:54351000-54352400	Enhancers	HMEC	breast
37	chr2:54351200-54354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54351200-54355400	Weak transcription	Osteobl	bone
39	chr2:54351200-54360200	Weak transcription	HSMMtube	muscle
40	chr2:54351200-54365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:54351200-54365800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:54351400-54354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:54351800-54352200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:54351800-54352200	Enhancers	K562	blood
45	chr2:54352200-54353600	Weak transcription	K562	blood
46	chr2:54352200-54362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:54352400-54366000	Weak transcription	HepG2	liver
49	chr2:54354000-54355800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:54354600-54355400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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