Variant report

Variant	nsv874149
Chromosome Location	chr2:54358517-54432222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:363)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:363 , 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	chr2:54403754-54404040	HepG2	liver:	n/a	n/a
3	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
4	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
5	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
6	CEBPB	chr2:54409366-54409644	HepG2	liver:	n/a	chr2:54409533-54409544
7	CEBPB	chr2:54409455-54409684	Hela-S3	cervix:	n/a	chr2:54409533-54409544
8	CEBPB	chr2:54376820-54377110	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:54399582-54399619	A549	lung:	n/a	n/a
10	CEBPB	chr2:54409363-54409710	HepG2	liver:	n/a	chr2:54409533-54409544
11	CEBPB	chr2:54409404-54409706	K562	blood:	n/a	chr2:54409533-54409544
12	CEBPB	chr2:54409410-54409681	MCF-7	breast:	n/a	chr2:54409533-54409544
13	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
15	CEBPB	chr2:54425690-54425890	HepG2	liver:	n/a	chr2:54425796-54425807
16	CEBPB	chr2:54409383-54409679	IMR90	lung:	n/a	chr2:54409533-54409544
17	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
18	CEBPB	chr2:54376796-54377077	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:54409404-54409694	A549	lung:	n/a	chr2:54409533-54409544
20	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
21	CEBPB	chr2:54414536-54414706	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:54414408-54414822	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:54414462-54414786	HepG2	liver:	n/a	n/a
24	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:54409486-54409686	H1-hESC	embryonic stem cell:	n/a	chr2:54409533-54409544
26	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
27	CEBPB	chr2:54376798-54377061	A549	lung:	n/a	n/a
28	CEBPB	chr2:54409404-54409606	HepG2	liver:	n/a	chr2:54409533-54409544
29	CEBPB	chr2:54414474-54414822	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:54425676-54425961	K562	blood:	n/a	chr2:54425796-54425807
31	CEBPB	chr2:54370917-54371309	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:54425791-54425811	A549	lung:	n/a	chr2:54425796-54425807
33	CTCF	chr2:54403840-54403990	GM12874	blood:	n/a	n/a
34	CTCF	chr2:54403840-54403990	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr2:54403840-54403990	AG09319	gingival:	n/a	n/a
36	CTCF	chr2:54388950-54389013	Medullo	brain:	n/a	n/a
37	CTCF	chr2:54403847-54403984	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr2:54403860-54404010	HAc	cerebellar:	n/a	n/a
39	CTCF	chr2:54403685-54404069	A549	lung:	n/a	n/a
40	CTCF	chr2:54388600-54388750	AG10803	skin:	n/a	n/a
41	CTCF	chr2:54403769-54404045	HepG2	liver:	n/a	n/a
42	CTCF	chr2:54403840-54403990	HMF	breast:	n/a	n/a
43	CTCF	chr2:54403805-54404012	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr2:54403820-54403970	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr2:54403789-54403988	GM19238	blood:	n/a	n/a
46	CTCF	chr2:54388919-54389059	K562	blood:	n/a	chr2:54388999-54389020
47	CTCF	chr2:54403858-54403918	GM10266	blood:	n/a	n/a
48	CTCF	chr2:54403820-54403970	MCF-7	breast:	n/a	n/a
49	CTCF	chr2:54403820-54403970	GM12878	blood:	n/a	n/a
50	CTCF	chr2:54403800-54403950	HEEpiC	esophagus:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
2	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
3	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
4	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
5	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
6	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
7	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
8	chr2:54341229..54346589-chr2:54385136..54390434,5	MCF-7	breast:
9	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
10	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:
11	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
12	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
13	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
14	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
15	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
16	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
17	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: 3283 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3283 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10206954	chr2:54358517-54358518	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529141076	chr2:54358524-54358525	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376372522	chr2:54358525-54358526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186479234	chr2:54358538-54358539	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs542002987	chr2:54358587-54358588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561816921	chr2:54358595-54358596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12477919	chr2:54358652-54358653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79553465	chr2:54358678-54358679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141968488	chr2:54358684-54358685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78082079	chr2:54358713-54358714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375655576	chr2:54358729-54358730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571914233	chr2:54358734-54358735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77007936	chr2:54358745-54358746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78046102	chr2:54358746-54358747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551058046	chr2:54358776-54358777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146391013	chr2:54358800-54358801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191281414	chr2:54358814-54358815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185678234	chr2:54358829-54358830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536519736	chr2:54358845-54358846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6545387	chr2:54358895-54358896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190538209	chr2:54358999-54359000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139784380	chr2:54359003-54359004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558624486	chr2:54359015-54359016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533347670	chr2:54359059-54359060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572165318	chr2:54359077-54359078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568896168	chr2:54359153-54359154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs977784	chr2:54359175-54359176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs144381279	chr2:54359196-54359197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369715628	chr2:54359207-54359208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78152430	chr2:54359216-54359217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113653477	chr2:54359227-54359228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542539691	chr2:54359243-54359244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150676662	chr2:54359272-54359273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75009128	chr2:54359303-54359304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs5831290	chr2:54359314-54359315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs33952945	chr2:54359315-54359316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549175399	chr2:54359339-54359340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572823487	chr2:54359381-54359382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375678628	chr2:54359384-54359385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181800563	chr2:54359415-54359416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75347274	chr2:54359492-54359493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527350715	chr2:54359499-54359500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548034796	chr2:54359544-54359545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114414784	chr2:54359550-54359551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371904855	chr2:54359551-54359552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569075549	chr2:54359560-54359561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536854440	chr2:54359574-54359575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530459707	chr2:54359582-54359583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536771720	chr2:54359622-54359623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185137877	chr2:54359623-54359624	Weak transcription	n/a	n/a	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:441 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:54348400-54361800	Weak transcription	Brain Anterior Caudate	brain
3	chr2:54348600-54362200	Weak transcription	Liver	Liver
4	chr2:54348600-54365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:54348600-54365800	Weak transcription	Left Ventricle	heart
6	chr2:54348800-54362000	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:54349200-54366000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:54349400-54360200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:54350000-54365800	Weak transcription	Psoas Muscle	Psoas
10	chr2:54350400-54365800	Weak transcription	Primary T cells from cord blood	blood
11	chr2:54350600-54382600	Weak transcription	Aorta	Aorta
12	chr2:54351200-54360200	Weak transcription	HSMMtube	muscle
13	chr2:54351200-54365800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:54351200-54365800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:54352200-54362000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:54352200-54411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:54352400-54366000	Weak transcription	HepG2	liver
18	chr2:54355400-54365800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:54359800-54370800	Weak transcription	Small Intestine	intestine
20	chr2:54360200-54361200	Strong transcription	HSMMtube	muscle
21	chr2:54360200-54367600	Strong transcription	Primary B cells from cord blood	blood
22	chr2:54360600-54382400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:54360800-54361200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:54361000-54361200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr2:54361200-54361400	Enhancers	Brain Substantia Nigra	brain
26	chr2:54361200-54362000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:54361200-54374200	Weak transcription	HSMMtube	muscle
28	chr2:54361400-54362000	Weak transcription	Brain Substantia Nigra	brain
29	chr2:54361400-54389800	Weak transcription	Lung	lung
30	chr2:54361800-54362000	Enhancers	Fetal Intestine Small	intestine
31	chr2:54361800-54362400	Enhancers	Brain Anterior Caudate	brain
32	chr2:54361800-54362400	Active TSS	Duodenum Mucosa	Duodenum
33	chr2:54361800-54362400	Active TSS	K562	blood
34	chr2:54362000-54362200	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr2:54362000-54362200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:54362000-54362200	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:54362000-54362400	Active TSS	Brain Substantia Nigra	brain
38	chr2:54362000-54362400	Enhancers	Ovary	ovary
39	chr2:54362000-54362400	Enhancers	HUVEC	blood vessel
40	chr2:54362000-54363600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:54362000-54365800	Weak transcription	Fetal Intestine Small	intestine
42	chr2:54362000-54386800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:54362000-54416400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr2:54362200-54362400	Active TSS	Brain Hippocampus Middle	brain
45	chr2:54362200-54362400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:54362200-54362400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:54362200-54362600	Strong transcription	Liver	Liver
48	chr2:54362200-54391400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:54362200-54411200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:54362400-54362600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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