Variant report

Variant	nsv962001
Chromosome Location	chr2:114390234-114415806
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:330)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:114411198-114411222	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114409629-114409827	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:114410353-114410372	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:114413617-114413766	K562	blood:	n/a	n/a
5	ATF1	chr2:114413614-114413743	K562	blood:	n/a	n/a
6	CEBPB	chr2:114413646-114413846	K562	blood:	n/a	n/a
7	CEBPB	chr2:114390619-114390841	HepG2	liver:	n/a	chr2:114390694-114390705
8	CEBPB	chr2:114390571-114390855	IMR90	lung:	n/a	chr2:114390694-114390705
9	CEBPB	chr2:114390617-114390840	A549	lung:	n/a	chr2:114390694-114390705
10	CTCF	chr2:114392963-114393141	NHEK	skin:	n/a	n/a
11	CTCF	chr2:114392946-114393143	GM12891	blood:	n/a	n/a
12	CTCF	chr2:114393046-114393073	Gliobla	brain:	n/a	n/a
13	CTCF	chr2:114392970-114393239	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:114393038-114393099	GM13977	blood:	n/a	n/a
15	CTCF	chr2:114392978-114393132	GM12892	blood:	n/a	n/a
16	CTCF	chr2:114392767-114392815	GM10248	blood:	n/a	n/a
17	CTCF	chr2:114392950-114393167	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr2:114392973-114393243	K562	blood:	n/a	n/a
19	CTCF	chr2:114393010-114393132	Fibrobl	skin:	n/a	n/a
20	CTCF	chr2:114392949-114393157	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:114392983-114393223	HepG2	liver:	n/a	n/a
22	CTCF	chr2:114392932-114393281	K562	blood:	n/a	n/a
23	CTCF	chr2:114406868-114406939	GM13976	blood:	n/a	n/a
24	CTCF	chr2:114392940-114393207	A549	lung:	n/a	n/a
25	CTCF	chr2:114392968-114393167	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr2:114392986-114393145	GM19240	blood:	n/a	n/a
27	CTCF	chr2:114392947-114393152	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:114392721-114392769	GM12892	blood:	n/a	n/a
29	CTCF	chr2:114392978-114393153	GM12878	blood:	n/a	n/a
30	CTCF	chr2:114392973-114393201	HepG2	liver:	n/a	n/a
31	CTCF	chr2:114392987-114393140	GM19239	blood:	n/a	n/a
32	CTCF	chr2:114392917-114393271	K562	blood:	n/a	n/a
33	CTCF	chr2:114392954-114393159	HepG2	liver:	n/a	n/a
34	CTCF	chr2:114392969-114393151	A549	lung:	n/a	n/a
35	CTCF	chr2:114392939-114393208	A549	lung:	n/a	n/a
36	CTCF	chr2:114393013-114393208	A549	lung:	n/a	n/a
37	CTCF	chr2:114392934-114393161	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:114392975-114393153	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:114392954-114393132	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:114392913-114393339	A549	lung:	n/a	n/a
41	CTCF	chr2:114393004-114393110	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr2:114392975-114393137	GM19238	blood:	n/a	n/a
43	CTCF	chr2:114401807-114401849	GM10266	blood:	n/a	n/a
44	CTCF	chr2:114392827-114393351	K562	blood:	n/a	n/a
45	CTCF	chr2:114393039-114393120	ProgFib	skin:	n/a	n/a
46	FOS	chr2:114408397-114408606	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr2:114408100-114408660	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr2:114411148-114411318	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:114409048-114409398	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr2:114409051-114409250	MCF10A-Er-Src	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114393176-114393226	Caco-2	colon:	n/a
2	chr2:114415472-114415522	HRCEpiC	kidney:	n/a
3	chr2:114413993-114414043	HMEC	breast:	n/a
4	chr2:114415511-114415561	GM19239	blood:	n/a
5	chr2:114393176-114393226	HAEpiC	amniotic membrane:	n/a
6	chr2:114413993-114414043	HEK293	kidney:	embryo
7	chr2:114413993-114414043	HCF	heart:	n/a
8	chr2:114400692-114400742	HEK293	kidney:	embryo
9	chr2:114393176-114393226	MCF-7	breast:	n/a
10	chr2:114393176-114393226	ovcar-3	ovarian:	n/a
11	chr2:114415511-114415561	SKMC	muscle:	n/a
12	chr2:114415472-114415522	RPTEC	kidney:	n/a
13	chr2:114413993-114414043	GM19239	blood:	n/a
14	chr2:114400692-114400742	HCM	heart:	n/a
15	chr2:114413993-114414043	NH-A	brain:	n/a
16	chr2:114400692-114400742	AG04450	lung:	fetal
17	chr2:114393176-114393226	HNPCEpiC	eye:	n/a
18	chr2:114415472-114415522	AG04450	lung:	fetal
19	chr2:114415472-114415522	SK-N-SH_RA	brain:	n/a
20	chr2:114415472-114415522	HCM	heart:	n/a
21	chr2:114415511-114415561	HepG2	liver:	n/a
22	chr2:114413993-114414043	NT2-D1	testis:	n/a
23	chr2:114393176-114393226	BJ	skin:	n/a
24	chr2:114413993-114414043	GM12878	blood:	n/a
25	chr2:114393176-114393226	CMK	blood:	n/a
26	chr2:114415472-114415522	HMEC	breast:	n/a
27	chr2:114393176-114393226	HMEC	breast:	n/a
28	chr2:114393176-114393226	AG09319	gingival:	n/a
29	chr2:114400692-114400742	AG04449	skin:	fetal
30	chr2:114415472-114415522	AG09309	skin:	n/a
31	chr2:114393176-114393226	K562	blood:	n/a
32	chr2:114415472-114415522	CMK	blood:	n/a
33	chr2:114415511-114415561	BJ	skin:	n/a
34	chr2:114415511-114415561	RPTEC	kidney:	n/a
35	chr2:114413993-114414043	SK-N-MC	brain:	n/a
36	chr2:114413993-114414043	SK-N-SH_RA	brain:	n/a
37	chr2:114413993-114414043	SKMC	muscle:	n/a
38	chr2:114415472-114415522	SK-N-SH	brain:	n/a
39	chr2:114393176-114393226	Hepatocyte	liver:	n/a
40	chr2:114393176-114393226	HCT-116	colon:	n/a
41	chr2:114415472-114415522	NB4	blood:	n/a
42	chr2:114393176-114393226	NH-A	brain:	n/a
43	chr2:114393176-114393226	IMR90	lung:	fetal
44	chr2:114415472-114415522	AG09319	gingival:	n/a
45	chr2:114393176-114393226	SK-N-SH_RA	brain:	n/a
46	chr2:114393176-114393226	AG04450	lung:	fetal
47	chr2:114415511-114415561	A549	lung:	n/a
48	chr2:114393176-114393226	T-47D	breast:	n/a
49	chr2:114413993-114414043	HUVEC	blood vessel:	n/a
50	chr2:114393176-114393226	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114408097..114410441-chr2:114413674..114415542,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABL2A	TF binding region
ENSG00000144158	TF binding region
RABL2A	CpG island
ENSG00000144158	CpG island
ENSG00000144158	chromatin interactions

Extended variants
information (count: 845 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529277369	chr2:114390266-114390267	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs191456864	chr2:114390267-114390268	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569358910	chr2:114390282-114390283	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs537997627	chr2:114390326-114390327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558329168	chr2:114390354-114390355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147294876	chr2:114390362-114390363	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141467029	chr2:114390458-114390459	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370021349	chr2:114390496-114390497	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142180024	chr2:114390526-114390527	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2595155	chr2:114390545-114390546	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139259451	chr2:114390566-114390567	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183237298	chr2:114390569-114390570	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370581872	chr2:114390570-114390571	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149971467	chr2:114390579-114390580	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371136098	chr2:114390592-114390593	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539313809	chr2:114390605-114390606	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201236556	chr2:114390616-114390617	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs139376080	chr2:114390647-114390648	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144116689	chr2:114390648-114390649	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs541243073	chr2:114390793-114390794	Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561144583	chr2:114390887-114390888	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530052146	chr2:114390909-114390910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549389935	chr2:114390992-114390993	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569323322	chr2:114391048-114391049	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377638636	chr2:114391062-114391063	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531737316	chr2:114391073-114391074	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs551545477	chr2:114391181-114391182	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs188736048	chr2:114391182-114391183	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs534102551	chr2:114391227-114391228	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs553971955	chr2:114391254-114391255	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs569664394	chr2:114391296-114391297	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs536587384	chr2:114391363-114391364	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs114411886	chr2:114391415-114391416	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs2592667	chr2:114391423-114391424	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs144071750	chr2:114391437-114391438	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs139233834	chr2:114391474-114391475	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs190745455	chr2:114391497-114391498	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs572133550	chr2:114391500-114391501	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs541212920	chr2:114391508-114391509	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561107704	chr2:114391520-114391521	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144735390	chr2:114391532-114391533	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543696283	chr2:114391568-114391569	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs793079	chr2:114391721-114391722	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs375949042	chr2:114391745-114391746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143748881	chr2:114391750-114391751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551772490	chr2:114391751-114391752	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139442867	chr2:114391754-114391755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200156130	chr2:114391783-114391784	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140574993	chr2:114391784-114391785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201040480	chr2:114391793-114391794	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114381000-114390400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:114384600-114392000	Weak transcription	Fetal Brain Male	brain
3	chr2:114385200-114393200	Weak transcription	Aorta	Aorta
4	chr2:114385400-114390400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:114385400-114390800	Weak transcription	Primary B cells from cord blood	blood
6	chr2:114385400-114391000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:114385400-114391200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:114385400-114391600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:114385400-114391600	Weak transcription	Esophagus	oesophagus
10	chr2:114385400-114391800	Weak transcription	Right Ventricle	heart
11	chr2:114385400-114392400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr2:114385400-114392600	Weak transcription	Ovary	ovary
13	chr2:114385400-114392800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114385400-114392800	Weak transcription	Placenta	Placenta
15	chr2:114385400-114392800	Weak transcription	Osteobl	bone
16	chr2:114385400-114393000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:114385400-114393000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:114385400-114393000	Weak transcription	Brain Substantia Nigra	brain
19	chr2:114385400-114393200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:114385400-114393200	Weak transcription	NHDF-Ad	bronchial
21	chr2:114385400-114393400	Weak transcription	Pancreas	Pancrea
22	chr2:114385400-114393800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:114385400-114394000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:114385400-114394600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:114385400-114394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:114385400-114395000	Weak transcription	Thymus	Thymus
27	chr2:114385800-114390400	Weak transcription	Left Ventricle	heart
28	chr2:114385800-114391200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:114385800-114391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:114385800-114391600	Weak transcription	Psoas Muscle	Psoas
31	chr2:114385800-114392000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:114385800-114392000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:114385800-114393800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:114385800-114394000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:114385800-114394200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:114385800-114394200	Weak transcription	A549	lung
37	chr2:114385800-114394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:114385800-114394600	Weak transcription	Colonic Mucosa	Colon
39	chr2:114386000-114390400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:114386000-114390400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:114386000-114390600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr2:114386000-114390600	Weak transcription	GM12878-XiMat	blood
43	chr2:114386000-114391000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:114386000-114391000	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:114386000-114391200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:114386000-114391200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:114386000-114391800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:114386000-114392800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:114386000-114393000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:114386000-114393200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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