Variant report

Variant	nsv1012230
Chromosome Location	chr2:54351988-54422959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 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	chr2:54360834-54361022	K562	blood:	n/a	n/a
6	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
7	CEBPB	chr2:54409363-54409710	HepG2	liver:	n/a	chr2:54409533-54409544
8	CEBPB	chr2:54414408-54414822	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
10	CEBPB	chr2:54414536-54414706	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:54409486-54409686	H1-hESC	embryonic stem cell:	n/a	chr2:54409533-54409544
13	CEBPB	chr2:54409455-54409684	Hela-S3	cervix:	n/a	chr2:54409533-54409544
14	CEBPB	chr2:54353992-54354196	K562	blood:	n/a	n/a
15	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:54376796-54377077	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:54376798-54377061	A549	lung:	n/a	n/a
18	CEBPB	chr2:54399582-54399619	A549	lung:	n/a	n/a
19	CEBPB	chr2:54409404-54409694	A549	lung:	n/a	chr2:54409533-54409544
20	CEBPB	chr2:54409366-54409644	HepG2	liver:	n/a	chr2:54409533-54409544
21	CEBPB	chr2:54376820-54377110	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:54409410-54409681	MCF-7	breast:	n/a	chr2:54409533-54409544
23	CEBPB	chr2:54409404-54409606	HepG2	liver:	n/a	chr2:54409533-54409544
24	CEBPB	chr2:54409404-54409706	K562	blood:	n/a	chr2:54409533-54409544
25	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
26	CEBPB	chr2:54409383-54409679	IMR90	lung:	n/a	chr2:54409533-54409544
27	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
28	CEBPB	chr2:54370917-54371309	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:54414462-54414786	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:54414474-54414822	HepG2	liver:	n/a	n/a
32	CTCF	chr2:54403220-54403370	WI-38	lung:	n/a	n/a
33	CTCF	chr2:54403847-54403984	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr2:54403840-54403990	GM12870	blood:	n/a	n/a
35	CTCF	chr2:54403820-54403970	GM12878	blood:	n/a	n/a
36	CTCF	chr2:54403800-54403950	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:54403810-54403977	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr2:54403840-54403990	HMF	breast:	n/a	n/a
39	CTCF	chr2:54403840-54403990	GM12872	blood:	n/a	n/a
40	CTCF	chr2:54403795-54403977	GM19239	blood:	n/a	n/a
41	CTCF	chr2:54388860-54389010	AG04450	lung:	n/a	n/a
42	CTCF	chr2:54403766-54404031	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:54403740-54403890	GM12866	blood:	n/a	n/a
44	CTCF	chr2:54403800-54403950	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:54403763-54404025	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr2:54403782-54404001	A549	lung:	n/a	n/a
47	CTCF	chr2:54403860-54404010	BE2_C	brain:	n/a	n/a
48	CTCF	chr2:54403800-54403950	WI-38	lung:	n/a	n/a
49	CTCF	chr2:54403715-54404065	A549	lung:	n/a	n/a
50	CTCF	chr2:54403685-54404069	A549	lung:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 3111 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3111 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369909259	chr2:54351992-54351993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs568628372	chr2:54352009-54352010	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537919389	chr2:54352011-54352012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558097882	chr2:54352017-54352018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553260777	chr2:54352052-54352053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182795166	chr2:54352080-54352081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540612547	chr2:54352096-54352097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6756174	chr2:54352109-54352110	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142391470	chr2:54352119-54352120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs28376974	chr2:54352151-54352152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562833909	chr2:54352211-54352212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576480377	chr2:54352220-54352221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116088473	chr2:54352236-54352237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs551613846	chr2:54352240-54352241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545461236	chr2:54352252-54352253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564159335	chr2:54352253-54352254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77557477	chr2:54352263-54352264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78449284	chr2:54352264-54352265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs373027309	chr2:54352330-54352331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11125521	chr2:54352358-54352359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs71775508	chr2:54352402-54352403	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs386646237	chr2:54352405-54352406	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs199663579	chr2:54352406-54352407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186467422	chr2:54352430-54352431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369147253	chr2:54352437-54352438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560025748	chr2:54352450-54352451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs189972697	chr2:54352453-54352454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548592007	chr2:54352511-54352512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568814197	chr2:54352520-54352521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527322083	chr2:54352546-54352547	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs140676459	chr2:54352557-54352558	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112336891	chr2:54352566-54352567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375252239	chr2:54352578-54352579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76528417	chr2:54352597-54352598	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115514188	chr2:54352609-54352610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372309834	chr2:54352653-54352654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534411255	chr2:54352657-54352658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554363106	chr2:54352677-54352678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs367891809	chr2:54352690-54352691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574399570	chr2:54352722-54352723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111642959	chr2:54352729-54352730	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34490974	chr2:54352741-54352742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182180447	chr2:54352742-54352743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556621850	chr2:54352746-54352747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187972794	chr2:54352785-54352786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs55677912	chr2:54352792-54352793	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs375920649	chr2:54352814-54352815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565375201	chr2:54352836-54352837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34432551	chr2:54352861-54352862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572403022	chr2:54352877-54352878	Weak transcription	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:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr2:54348400-54361800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:54348600-54362200	Weak transcription	Liver	Liver
7	chr2:54348600-54365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:54348600-54365800	Weak transcription	Left Ventricle	heart
9	chr2:54348800-54362000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:54349000-54352400	Enhancers	NHEK	skin
11	chr2:54349000-54352600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:54349200-54366000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr2:54349400-54360200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:54350000-54365800	Weak transcription	Psoas Muscle	Psoas
15	chr2:54350400-54352400	Enhancers	HepG2	liver
16	chr2:54350400-54365800	Weak transcription	Primary T cells from cord blood	blood
17	chr2:54350600-54352200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
19	chr2:54350800-54352200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:54351000-54352200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54351000-54352400	Enhancers	HMEC	breast
22	chr2:54351200-54354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:54351200-54355400	Weak transcription	Osteobl	bone
24	chr2:54351200-54360200	Weak transcription	HSMMtube	muscle
25	chr2:54351200-54365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54351200-54365800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:54351400-54354000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:54351800-54352200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:54351800-54352200	Enhancers	K562	blood
30	chr2:54352200-54353600	Weak transcription	K562	blood
31	chr2:54352200-54362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:54352400-54366000	Weak transcription	HepG2	liver
34	chr2:54354000-54355800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:54354600-54355400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:54355400-54355600	Enhancers	Osteobl	bone
37	chr2:54355400-54365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:54359800-54370800	Weak transcription	Small Intestine	intestine
39	chr2:54360200-54361200	Strong transcription	HSMMtube	muscle
40	chr2:54360200-54367600	Strong transcription	Primary B cells from cord blood	blood
41	chr2:54360600-54382400	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:54360800-54361200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:54361000-54361200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:54361200-54361400	Enhancers	Brain Substantia Nigra	brain
45	chr2:54361200-54362000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:54361200-54374200	Weak transcription	HSMMtube	muscle
47	chr2:54361400-54362000	Weak transcription	Brain Substantia Nigra	brain
48	chr2:54361400-54389800	Weak transcription	Lung	lung
49	chr2:54361800-54362000	Enhancers	Fetal Intestine Small	intestine
50	chr2:54361800-54362400	Enhancers	Brain Anterior Caudate	brain

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