Variant report

Variant	nsv963903
Chromosome Location	chr2:210552854-210561374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:210559306-210559317	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:210555600-210555864	A549	lung:	n/a	n/a
3	CEBPB	chr2:210555645-210555863	MCF-7	breast:	n/a	n/a
4	CEBPB	chr2:210560644-210560875	HepG2	liver:	n/a	chr2:210560761-210560772
5	CEBPB	chr2:210555562-210555880	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:210555569-210555888	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr2:210558120-210558270	GM12875	blood:	n/a	n/a
8	CTCF	chr2:210557620-210557770	HepG2	liver:	n/a	n/a
9	E2F4	chr2:210553208-210553570	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr2:210556998-210557297	MCF10A-Er-Src	breast:	n/a	n/a
11	EBF1	chr2:210560779-210561047	GM12878	blood:	n/a	chr2:210560949-210560960 chr2:210560931-210560942
12	FOS	chr2:210553128-210553458	MCF10A-Er-Src	breast:	n/a	chr2:210553277-210553287 chr2:210553321-210553330 chr2:210553277-210553287
13	FOS	chr2:210553134-210553495	MCF10A-Er-Src	breast:	n/a	chr2:210553277-210553287 chr2:210553321-210553330 chr2:210553277-210553287
14	FOS	chr2:210553147-210553502	MCF10A-Er-Src	breast:	n/a	chr2:210553277-210553287 chr2:210553321-210553330 chr2:210553277-210553287
15	FOS	chr2:210556419-210556560	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr2:210556410-210556573	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr2:210556377-210556519	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:210553180-210553436	MCF10A-Er-Src	breast:	n/a	chr2:210553277-210553287 chr2:210553321-210553330 chr2:210553277-210553287
19	GATA3	chr2:210552957-210553477	SK-N-SH	brain:	n/a	chr2:210553320-210553330
20	JUND	chr2:210555287-210555422	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFF	chr2:210557597-210557735	HepG2	liver:	n/a	n/a
22	MAFK	chr2:210557556-210557868	HepG2	liver:	n/a	n/a
23	MAFK	chr2:210557596-210557828	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:210552121-210552952	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr2:210560530-210561026	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr2:210555170-210555883	H1-neurons	neurons:	n/a	n/a
27	POLR2A	chr2:210557721-210559634	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:210559309-210561084	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr2:210559882-210561021	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr2:210557862-210560520	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr2:210558867-210559173	PFSK-1	brain:	n/a	n/a
32	SPI1	chr2:210552751-210553022	HL-60	blood:	n/a	chr2:210552887-210552900 chr2:210552888-210552901 chr2:210552888-210552901
33	STAT3	chr2:210553160-210553340	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr2:210556366-210556566	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr2:210556547-210556570	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr2:210553154-210553354	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr2:210556517-210556609	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr2:210556779-210556869	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr2:210553177-210553373	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF12	chr2:210553156-210553603	SK-N-SH	brain:	n/a	n/a
41	ZNF384	chr2:210558522-210558615	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:210557706-210557756	T-47D	breast:	n/a
2	chr2:210557706-210557756	SK-N-SH	brain:	n/a
3	chr2:210557706-210557756	HNPCEpiC	eye:	n/a
4	chr2:210557706-210557756	AG10803	skin:	n/a
5	chr2:210557706-210557756	HL-60	blood:	n/a
6	chr2:210557706-210557756	HCT-116	colon:	n/a
7	chr2:210557706-210557756	A549	lung:	n/a
8	chr2:210557706-210557756	GM12878	blood:	n/a
9	chr2:210557706-210557756	SK-N-SH_RA	brain:	n/a
10	chr2:210557706-210557756	GM12891	blood:	n/a
11	chr2:210557706-210557756	NHDF-neo	bronchial:	n/a
12	chr2:210557706-210557756	NHBE	bronchial:	n/a
13	chr2:210557706-210557756	HRCEpiC	kidney:	n/a
14	chr2:210557706-210557756	HRPEpiC	eye:	n/a
15	chr2:210557706-210557756	NT2-D1	testis:	n/a
16	chr2:210557706-210557756	ovcar-3	ovarian:	n/a
17	chr2:210557706-210557756	Jurkat	blood:	n/a
18	chr2:210557706-210557756	SKMC	muscle:	n/a
19	chr2:210557706-210557756	AoSMC	blood vessel:	n/a
20	chr2:210557706-210557756	HIPEpiC	eye:	n/a
21	chr2:210557706-210557756	HMEC	breast:	n/a
22	chr2:210557706-210557756	HAEpiC	amniotic membrane:	n/a
23	chr2:210557706-210557756	PrEC	prostate:	n/a
24	chr2:210557706-210557756	IMR90	lung:	fetal
25	chr2:210557706-210557756	HRE	kidney:	n/a
26	chr2:210557706-210557756	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:210557706-210557756	CMK	blood:	n/a
28	chr2:210557706-210557756	PANC-1	pancreas:	n/a
29	chr2:210557706-210557756	Hepatocyte	liver:	n/a
30	chr2:210557706-210557756	HUVEC	blood vessel:	n/a
31	chr2:210557706-210557756	HEK293	kidney:	embryo
32	chr2:210557706-210557756	NH-A	brain:	n/a
33	chr2:210557706-210557756	H1-hESC	embryonic stem cell:	embryo
34	chr2:210557706-210557756	SK-N-MC	brain:	n/a
35	chr2:210557706-210557756	MCF10A-Er-Src	breast:	n/a
36	chr2:210557706-210557756	K562	blood:	n/a
37	chr2:210557706-210557756	AG09319	gingival:	n/a
38	chr2:210557706-210557756	BJ	skin:	n/a
39	chr2:210557706-210557756	BE2_C	brain:	n/a
40	chr2:210557706-210557756	GM12892	blood:	n/a
41	chr2:210557706-210557756	HCF	heart:	n/a
42	chr2:210557706-210557756	NB4	blood:	n/a
43	chr2:210557706-210557756	Hela-S3	cervix:	n/a
44	chr2:210557706-210557756	MCF-7	breast:	n/a
45	chr2:210557706-210557756	LNCaP	prostate:	n/a
46	chr2:210557706-210557756	GM06990	blood:	n/a
47	chr2:210557706-210557756	HCM	heart:	n/a
48	chr2:210557706-210557756	Caco-2	colon:	n/a
49	chr2:210557706-210557756	U87	brain:	n/a
50	chr2:210557706-210557756	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:117887756..117888531-chr2:210557968..210558828,2	MCF-7	breast:

Variant related genes	Relation type
MAP2	TF binding region
MAP2	CpG island

Extended variants
information (count: 360 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185281719	chr2:210552857-210552858	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577483615	chr2:210552873-210552874	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550243131	chr2:210552886-210552887	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374388518	chr2:210552929-210552930	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143555045	chr2:210552930-210552931	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs370845297	chr2:210552937-210552938	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529260825	chr2:210552942-210552943	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550999969	chr2:210552943-210552944	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567914110	chr2:210552945-210552946	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79678900	chr2:210552969-210552970	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546600303	chr2:210553012-210553013	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566456961	chr2:210553069-210553070	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs562299481	chr2:210553089-210553090	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552951674	chr2:210553118-210553119	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs113045657	chr2:210553145-210553146	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558681244	chr2:210553156-210553157	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs541959309	chr2:210553272-210553273	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569084268	chr2:210553362-210553363	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs538006389	chr2:210553407-210553408	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554592222	chr2:210553460-210553461	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574706936	chr2:210553496-210553497	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs143399291	chr2:210553548-210553549	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190133928	chr2:210553558-210553559	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181336464	chr2:210553611-210553612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572899826	chr2:210553654-210553655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151053407	chr2:210553667-210553668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564995516	chr2:210553684-210553685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140996468	chr2:210553706-210553707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74411652	chr2:210553779-210553780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529510698	chr2:210553951-210553952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561300202	chr2:210553960-210553961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371524464	chr2:210553987-210553988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546965882	chr2:210554008-210554009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3768814	chr2:210554019-210554020	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs3835776	chr2:210554025-210554026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532453486	chr2:210554046-210554047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202212508	chr2:210554076-210554077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150181362	chr2:210554109-210554110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568948668	chr2:210554177-210554178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552201510	chr2:210554232-210554233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537524609	chr2:210554236-210554237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200324926	chr2:210554246-210554247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548400010	chr2:210554291-210554292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201402545	chr2:210554362-210554363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138721505	chr2:210554381-210554382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142320012	chr2:210554408-210554409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79774470	chr2:210554440-210554441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147110331	chr2:210554454-210554455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538613683	chr2:210554536-210554537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138572051	chr2:210554584-210554585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Mantle cell lymphoma	21518781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210531400-210587800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:210537000-210596800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:210541800-210596400	Weak transcription	Gastric	stomach
4	chr2:210542000-210555400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:210544000-210596600	Weak transcription	Ovary	ovary
6	chr2:210544200-210555200	Weak transcription	Left Ventricle	heart
7	chr2:210544400-210598600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:210546400-210554800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:210546800-210560000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:210549200-210559600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:210550800-210557400	Weak transcription	Brain Anterior Caudate	brain
12	chr2:210550800-210557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:210551400-210553600	Enhancers	HMEC	breast
14	chr2:210551400-210557600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:210551400-210561400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:210552000-210553000	Genic enhancers	Fetal Brain Female	brain
17	chr2:210552000-210553400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:210552200-210553000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:210552200-210553000	Enhancers	NHEK	skin
20	chr2:210552400-210553000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:210552400-210561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:210552600-210555200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:210552800-210554200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:210552800-210554800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:210552800-210555000	Weak transcription	Fetal Brain Male	brain
26	chr2:210552800-210555200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:210552800-210555400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:210552800-210555400	Weak transcription	Aorta	Aorta
29	chr2:210552800-210555400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:210552800-210557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:210552800-210599400	Weak transcription	Pancreas	Pancrea
32	chr2:210553000-210557200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:210553000-210557600	Weak transcription	Fetal Brain Female	brain
34	chr2:210553000-210583800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:210553200-210557400	Weak transcription	HUVEC	blood vessel
36	chr2:210554200-210565400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:210554800-210557600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:210554800-210562800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:210555000-210555600	Enhancers	Fetal Brain Male	brain
40	chr2:210555200-210555400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:210555200-210555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:210555200-210555600	Strong transcription	Left Ventricle	heart
43	chr2:210555200-210555800	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:210555200-210560000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:210555400-210555800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:210555400-210555800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:210555400-210555800	ZNF genes & repeats	Aorta	Aorta
48	chr2:210555400-210555800	Strong transcription	Brain Germinal Matrix	brain
49	chr2:210555600-210555800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:210555600-210561600	Weak transcription	Fetal Brain Male	brain

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