Variant report

Variant	nsv508718
Chromosome Location	chr2:32154215-32172810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:32170619-32170997	K562	blood:	n/a	n/a
2	ATF1	chr2:32170594-32170951	K562	blood:	n/a	n/a
3	ATF3	chr2:32170560-32170973	K562	blood:	n/a	n/a
4	BACH1	chr2:32170405-32170552	K562	blood:	n/a	n/a
5	BHLHE40	chr2:32170652-32171153	K562	blood:	n/a	n/a
6	BRCA1	chr2:32159111-32159195	GM12878	blood:	n/a	n/a
7	CEBPB	chr2:32157066-32157219	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:32156778-32156825	HepG2	liver:	n/a	chr2:32156797-32156806 chr2:32156797-32156806
9	CEBPB	chr2:32170916-32170959	K562	blood:	n/a	n/a
10	CEBPB	chr2:32158178-32158392	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:32158177-32158377	K562	blood:	n/a	n/a
12	CEBPB	chr2:32157055-32157261	A549	lung:	n/a	n/a
13	CEBPB	chr2:32158191-32158360	A549	lung:	n/a	n/a
14	CEBPB	chr2:32157548-32157570	A549	lung:	n/a	n/a
15	CEBPB	chr2:32172307-32172475	HepG2	liver:	n/a	chr2:32172449-32172462 chr2:32172451-32172462 chr2:32172449-32172462 chr2:32172449-32172460
16	CEBPD	chr2:32170533-32171030	K562	blood:	n/a	n/a
17	CTCF	chr2:32170622-32170878	K562	blood:	n/a	n/a
18	CTCF	chr2:32170740-32170890	HCM	heart:	n/a	n/a
19	CTCF	chr2:32170780-32170842	K562	blood:	n/a	n/a
20	CTCF	chr2:32170640-32170790	HVMF	connective:	n/a	n/a
21	CTCF	chr2:32155140-32155290	A549	lung:	n/a	n/a
22	CTCF	chr2:32170641-32171080	K562	blood:	n/a	n/a
23	CTCF	chr2:32170700-32170850	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr2:32167600-32167750	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr2:32160518-32160552	GM10248	blood:	n/a	n/a
26	CTCF	chr2:32159180-32159330	GM12869	blood:	n/a	n/a
27	CTCF	chr2:32170400-32170550	HAc	cerebellar:	n/a	n/a
28	CTCF	chr2:32170847-32170850	K562	blood:	n/a	n/a
29	CTCF	chr2:32170700-32170850	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr2:32155807-32155880	Kidney_OC	kidney:	n/a	n/a
31	CUX1	chr2:32170672-32171082	K562	blood:	n/a	n/a
32	CUX1	chr2:32169986-32170314	K562	blood:	n/a	n/a
33	E2F4	chr2:32167002-32167366	MCF10A-Er-Src	breast:	n/a	n/a
34	EGR1	chr2:32170640-32170888	K562	blood:	n/a	n/a
35	EGR1	chr2:32158197-32158382	K562	blood:	n/a	n/a
36	EGR1	chr2:32158218-32158392	K562	blood:	n/a	n/a
37	EP300	chr2:32162697-32163310	SK-N-SH	brain:	n/a	n/a
38	EP300	chr2:32154648-32154684	K562	blood:	n/a	n/a
39	EP300	chr2:32170448-32170982	K562	blood:	n/a	n/a
40	FAM48A	chr2:32157993-32158057	GM12878	blood:	n/a	n/a
41	FAM48A	chr2:32170119-32170197	GM12878	blood:	n/a	n/a
42	FOS	chr2:32166043-32166203	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:32166002-32166208	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL2	chr2:32162705-32163293	SK-N-SH	brain:	n/a	chr2:32163023-32163035
45	GATA1	chr2:32170548-32171081	PBDE	blood:	n/a	n/a
46	GATA2	chr2:32170548-32171020	K562	blood:	n/a	n/a
47	GATA3	chr2:32162107-32162307	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr2:32162878-32163138	T-47D	breast:	n/a	n/a
49	GATA3	chr2:32162614-32163400	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr2:32162607-32163440	SK-N-SH	brain:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32162056..32164387-chr2:32234582..32237012,2	K562	blood:
2	chr2:32153176..32157787-chr2:32159365..32162125,4	K562	blood:
3	chr2:32166637..32169522-chr2:32234606..32236345,2	K562	blood:
4	chr2:32170200..32172293-chr2:32234728..32237672,4	K562	blood:
5	chr2:32167207..32169044-chr2:32185983..32188550,2	MCF-7	breast:
6	chr2:32103181..32105560-chr2:32170554..32172181,2	K562	blood:
7	chr2:32163952..32165461-chr2:32167129..32168721,2	K562	blood:
8	chr2:32160268..32161970-chr2:32165690..32167478,2	K562	blood:
9	chr2:32165617..32167140-chr2:32168649..32171458,2	MCF-7	breast:
10	chr2:32153176..32157787-chr2:32159365..32162125,4	K562	blood:
11	chr2:32165597..32167761-chr2:32263363..32266218,2	MCF-7	breast:
12	chr2:32155912..32158013-chr2:32163054..32165280,2	K562	blood:
13	chr2:32154707..32157103-chr2:32390567..32392832,2	K562	blood:
14	chr2:32155525..32158035-chr2:32158686..32161450,2	K562	blood:
15	chr2:32155912..32158013-chr2:32163054..32165280,2	K562	blood:
16	chr2:32155525..32158035-chr2:32158686..32161450,2	K562	blood:
17	chr2:32158429..32160504-chr2:32162208..32164746,3	K562	blood:
18	chr2:32160268..32161970-chr2:32165690..32167478,2	K562	blood:
19	chr2:32158032..32160777-chr2:32231295..32234289,2	K562	blood:
20	chr2:32148057..32150613-chr2:32161533..32164185,2	MCF-7	breast:
21	chr2:32158429..32160504-chr2:32162208..32164746,3	K562	blood:
22	chr2:32165617..32167140-chr2:32168649..32171458,2	MCF-7	breast:
23	chr2:32167259..32169484-chr2:32172029..32173771,2	MCF-7	breast:

No data

Variant related genes	Relation type
MEMO1	TF binding region
ENSG00000152683	chromatin interactions
ENSG00000162959	chromatin interactions
ENSG00000162961	chromatin interactions
ENSG00000272716	chromatin interactions

Extended variants
information (count: 664 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:664 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572409502	chr2:32154230-32154231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540426128	chr2:32154296-32154297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560063131	chr2:32154335-32154336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539353110	chr2:32154342-32154343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529167775	chr2:32154378-32154379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541021432	chr2:32154418-32154419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559012794	chr2:32154423-32154424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531207300	chr2:32154425-32154426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571337102	chr2:32154457-32154458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149859965	chr2:32154461-32154462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554185402	chr2:32154463-32154464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148027189	chr2:32154475-32154476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3769609	chr2:32154526-32154527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373995006	chr2:32154569-32154570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74330457	chr2:32154570-32154571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187514700	chr2:32154623-32154624	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534848704	chr2:32154696-32154697	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141750441	chr2:32154697-32154698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536981061	chr2:32154721-32154722	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146026204	chr2:32154750-32154751	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369209290	chr2:32154788-32154789	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs570104510	chr2:32154805-32154806	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192437559	chr2:32154851-32154852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs558631667	chr2:32154852-32154853	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183391889	chr2:32154914-32154915	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188870844	chr2:32154937-32154938	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs139994001	chr2:32155046-32155047	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs573476472	chr2:32155094-32155095	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542563326	chr2:32155102-32155103	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562435752	chr2:32155104-32155105	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531464806	chr2:32155112-32155113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544993828	chr2:32155118-32155119	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75069632	chr2:32155131-32155132	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536452622	chr2:32155132-32155133	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs2082185	chr2:32155175-32155176	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547161730	chr2:32155190-32155191	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576703017	chr2:32155200-32155201	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567887838	chr2:32155214-32155215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs530307616	chr2:32155254-32155255	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544355484	chr2:32155336-32155337	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs550356699	chr2:32155367-32155368	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570366382	chr2:32155383-32155384	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192599621	chr2:32155384-32155385	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs558924499	chr2:32155392-32155393	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565917340	chr2:32155422-32155423	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535145083	chr2:32155437-32155438	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35433063	chr2:32155446-32155447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs72796828	chr2:32155516-32155517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542426209	chr2:32155519-32155520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184397464	chr2:32155626-32155627	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
hereditary spastic paraplegia	21659953	CNVD
Autosomal-dominant hereditary spastic paraplegia	17098887	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:32075800-32170000	Weak transcription	Aorta	Aorta
3	chr2:32086600-32174400	Weak transcription	NHLF	lung
4	chr2:32088000-32157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr2:32089400-32160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
7	chr2:32107200-32167600	Weak transcription	Left Ventricle	heart
8	chr2:32116200-32173000	Weak transcription	HSMMtube	muscle
9	chr2:32116800-32166200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:32116800-32169400	Weak transcription	Small Intestine	intestine
11	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:32117000-32205200	Weak transcription	NH-A	brain
13	chr2:32118600-32170600	Weak transcription	Gastric	stomach
14	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:32126200-32170400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:32127400-32160400	Weak transcription	Thymus	Thymus
17	chr2:32127400-32190200	Weak transcription	Lung	lung
18	chr2:32127600-32156000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:32127600-32165600	Weak transcription	Dnd41	blood
20	chr2:32127800-32154600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:32127800-32169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:32128400-32170200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:32130200-32165800	Weak transcription	Esophagus	oesophagus
24	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:32133600-32157200	Weak transcription	HUVEC	blood vessel
26	chr2:32133800-32157600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:32134200-32159200	Weak transcription	Primary T cells from cord blood	blood
28	chr2:32134200-32167600	Weak transcription	Brain Germinal Matrix	brain
29	chr2:32134600-32166800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:32137000-32167000	Weak transcription	A549	lung
32	chr2:32137000-32168000	Weak transcription	Adipose Nuclei	Adipose
33	chr2:32137000-32170000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
35	chr2:32137200-32166200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:32137200-32167600	Weak transcription	Ovary	ovary
37	chr2:32137600-32168000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:32139200-32173600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:32143000-32166800	Weak transcription	NHDF-Ad	bronchial
40	chr2:32143000-32172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:32143400-32161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:32143400-32167200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:32145000-32166400	Weak transcription	Fetal Lung	lung
44	chr2:32145000-32183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:32145200-32154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:32145200-32164800	Weak transcription	NHEK	skin
47	chr2:32145200-32165600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:32145200-32167000	Weak transcription	Osteobl	bone
49	chr2:32145200-32167600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:32145200-32167600	Weak transcription	Fetal Muscle Trunk	muscle

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