Variant report

Variant	nsv875782
Chromosome Location	chr2:212364807-212395971
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:212377956-212378135	HepG2	liver:	n/a	chr2:212378026-212378037
2	CEBPB	chr2:212375518-212375530	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:212372106-212372296	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:212368649-212368893	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr2:212368640-212368790	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr2:212368720-212368870	GM12865	blood:	n/a	n/a
7	CTCF	chr2:212368620-212368770	HCT-116	colon:	n/a	n/a
8	CTCF	chr2:212368720-212368870	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr2:212368747-212368867	LNCaP	prostate:	n/a	n/a
10	CTCF	chr2:212368700-212368850	GM12875	blood:	n/a	n/a
11	CTCF	chr2:212368633-212368869	GM12892	blood:	n/a	n/a
12	CTCF	chr2:212368480-212368630	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr2:212368644-212368847	GM13977	blood:	n/a	n/a
14	CTCF	chr2:212368660-212368810	HVMF	connective:	n/a	n/a
15	CTCF	chr2:212368720-212368870	AG09309	skin:	n/a	n/a
16	CTCF	chr2:212368686-212368846	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:212368683-212368858	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:212368620-212368770	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr2:212368720-212368870	NHEK	skin:	n/a	n/a
20	CTCF	chr2:212367940-212368090	GM12873	blood:	n/a	n/a
21	CTCF	chr2:212368700-212368850	GM12872	blood:	n/a	n/a
22	CTCF	chr2:212368700-212368850	NB4	blood:	n/a	n/a
23	CTCF	chr2:212368600-212368750	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr2:212368707-212368833	GM10266	blood:	n/a	n/a
25	CTCF	chr2:212368700-212368850	GM12871	blood:	n/a	n/a
26	CTCF	chr2:212368686-212368842	HepG2	liver:	n/a	n/a
27	CTCF	chr2:212368634-212368890	GM12878	blood:	n/a	n/a
28	CTCF	chr2:212368691-212368839	NHEK	skin:	n/a	n/a
29	CTCF	chr2:212368675-212368892	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:212368681-212368872	GM19239	blood:	n/a	n/a
31	CTCF	chr2:212368720-212368870	A549	lung:	n/a	n/a
32	CTCF	chr2:212368660-212368810	HL-60	blood:	n/a	n/a
33	CTCF	chr2:212368620-212368770	HCPEpiC	choroid plexus:	n/a	n/a
34	CTCF	chr2:212368720-212368870	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:212368691-212368854	HepG2	liver:	n/a	n/a
36	CTCF	chr2:212368740-212368890	GM12870	blood:	n/a	n/a
37	CTCF	chr2:212368320-212368470	GM12873	blood:	n/a	n/a
38	CTCF	chr2:212368620-212368770	NHEK	skin:	n/a	n/a
39	CTCF	chr2:212368620-212368770	HepG2	liver:	n/a	n/a
40	CTCF	chr2:212368700-212368850	GM12874	blood:	n/a	n/a
41	CTCF	chr2:212368640-212368790	K562	blood:	n/a	n/a
42	CTCF	chr2:212368680-212368830	HEK293	kidney:	n/a	n/a
43	CTCF	chr2:212368680-212368830	HMF	breast:	n/a	n/a
44	CTCF	chr2:212368740-212368890	HRE	kidney:	n/a	n/a
45	CTCF	chr2:212368667-212368875	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:212368680-212368830	BE2_C	brain:	n/a	n/a
47	CTCF	chr2:212368669-212368870	GM12891	blood:	n/a	n/a
48	CTCF	chr2:212368720-212368870	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr2:212368660-212368810	GM12868	blood:	n/a	n/a
50	CTCF	chr2:212368720-212368870	GM12873	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:212389424-212389474	GM06990	blood:	n/a
2	chr2:212388373-212388423	HEK293	kidney:	embryo
3	chr2:212388373-212388423	HRPEpiC	eye:	n/a
4	chr2:212388373-212388423	AG04449	skin:	fetal
5	chr2:212389424-212389474	PrEC	prostate:	n/a
6	chr2:212389424-212389474	LNCaP	prostate:	n/a
7	chr2:212388373-212388423	HEEpiC	esophagus:	n/a
8	chr2:212389424-212389474	AoSMC	blood vessel:	n/a
9	chr2:212388373-212388423	HCF	heart:	n/a
10	chr2:212389424-212389474	AG09309	skin:	n/a
11	chr2:212388373-212388423	NHDF-neo	bronchial:	n/a
12	chr2:212388373-212388423	GM12892	blood:	n/a
13	chr2:212388373-212388423	HCT-116	colon:	n/a
14	chr2:212388373-212388423	NH-A	brain:	n/a
15	chr2:212388373-212388423	GM06990	blood:	n/a
16	chr2:212388373-212388423	SK-N-MC	brain:	n/a
17	chr2:212388373-212388423	NHBE	bronchial:	n/a
18	chr2:212388373-212388423	SAEC	small airway:	n/a
19	chr2:212389424-212389474	HCPEpiC	choroid plexus:	n/a
20	chr2:212389424-212389474	A549	lung:	n/a
21	chr2:212389424-212389474	PFSK-1	brain:	n/a
22	chr2:212388373-212388423	BE2_C	brain:	n/a
23	chr2:212389424-212389474	AG09319	gingival:	n/a
24	chr2:212389424-212389474	HCT-116	colon:	n/a
25	chr2:212389424-212389474	SK-N-MC	brain:	n/a
26	chr2:212389424-212389474	NHBE	bronchial:	n/a
27	chr2:212388373-212388423	Hela-S3	cervix:	n/a
28	chr2:212388373-212388423	GM12891	blood:	n/a
29	chr2:212389424-212389474	HIPEpiC	eye:	n/a
30	chr2:212389424-212389474	HCM	heart:	n/a
31	chr2:212389424-212389474	HMEC	breast:	n/a
32	chr2:212388373-212388423	CMK	blood:	n/a
33	chr2:212389424-212389474	HEK293	kidney:	embryo
34	chr2:212389424-212389474	IMR90	lung:	fetal
35	chr2:212388373-212388423	HRCEpiC	kidney:	n/a
36	chr2:212389424-212389474	GM12878	blood:	n/a
37	chr2:212388373-212388423	AG09319	gingival:	n/a
38	chr2:212388373-212388423	HNPCEpiC	eye:	n/a
39	chr2:212389424-212389474	MCF-7	breast:	n/a
40	chr2:212389424-212389474	BE2_C	brain:	n/a
41	chr2:212389424-212389474	U87	brain:	n/a
42	chr2:212388373-212388423	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:212389424-212389474	SK-N-SH_RA	brain:	n/a
44	chr2:212389424-212389474	HRCEpiC	kidney:	n/a
45	chr2:212388373-212388423	HCM	heart:	n/a
46	chr2:212388373-212388423	PrEC	prostate:	n/a
47	chr2:212388373-212388423	PFSK-1	brain:	n/a
48	chr2:212389424-212389474	AG04450	lung:	fetal
49	chr2:212389424-212389474	MCF10A-Er-Src	breast:	n/a
50	chr2:212389424-212389474	GM19239	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:212320246..212322831-chr2:212376794..212379145,2	MCF-7	breast:
2	chr2:212366946..212368723-chr2:212370212..212371913,2	K562	blood:
3	chr2:212288710..212290756-chr2:212380740..212383126,2	MCF-7	breast:
4	chr2:212366946..212368723-chr2:212370212..212371913,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP119	TF binding region
RNA5SP119	CpG island

Extended variants
information (count: 1404 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1404 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4672617	chr2:212364807-212364808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4672618	chr2:212364818-212364819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs58052666	chr2:212364841-212364842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537173452	chr2:212364864-212364865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556767747	chr2:212364939-212364940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567319975	chr2:212364970-212364971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535692508	chr2:212364990-212364991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555882817	chr2:212364992-212364993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147706674	chr2:212365026-212365027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548804646	chr2:212365027-212365028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186438947	chr2:212365068-212365069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190808639	chr2:212365118-212365119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76548234	chr2:212365209-212365210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543377095	chr2:212365248-212365249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183040935	chr2:212365351-212365352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529339687	chr2:212365364-212365365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188253519	chr2:212365369-212365370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559487882	chr2:212365401-212365402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191476100	chr2:212365449-212365450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376674208	chr2:212365492-212365493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76778207	chr2:212365520-212365521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530535708	chr2:212365522-212365523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78194193	chr2:212365526-212365527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374452202	chr2:212365553-212365554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550523604	chr2:212365592-212365593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4131610	chr2:212365610-212365611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115810049	chr2:212365643-212365644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370948707	chr2:212365676-212365677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555729303	chr2:212365710-212365711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78866604	chr2:212365735-212365736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535018138	chr2:212365744-212365745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558045964	chr2:212365762-212365763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139889752	chr2:212365780-212365781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149689702	chr2:212365791-212365792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557280526	chr2:212365809-212365810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574088696	chr2:212365812-212365813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543106139	chr2:212365826-212365827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571283273	chr2:212365837-212365838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5838271	chr2:212365839-212365840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75934570	chr2:212365844-212365845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114962306	chr2:212365904-212365905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182914091	chr2:212365916-212365917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145536900	chr2:212365985-212365986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377060610	chr2:212366002-212366003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565199892	chr2:212366012-212366013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374956906	chr2:212366014-212366015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13032896	chr2:212366015-212366016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560930930	chr2:212366040-212366041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529778978	chr2:212366054-212366055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115467925	chr2:212366096-212366097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212362000-212365400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212362800-212368600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:212364400-212365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:212364600-212365400	Enhancers	Fetal Heart	heart
5	chr2:212367800-212368200	ZNF genes & repeats	Aorta	Aorta
6	chr2:212368600-212368800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:212368600-212369400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:212369400-212377600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:212374400-212375200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:212374400-212375200	Enhancers	Brain Substantia Nigra	brain
11	chr2:212374600-212375000	Enhancers	Brain Hippocampus Middle	brain
12	chr2:212374600-212377600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212375000-212377400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:212376400-212377600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:212376800-212377800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:212377000-212378400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:212377400-212377600	Enhancers	Fetal Kidney	kidney
18	chr2:212377400-212377800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:212377400-212377800	Enhancers	Brain Hippocampus Middle	brain
20	chr2:212377400-212378400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:212377400-212378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:212377400-212378400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:212377600-212378000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:212377600-212378000	Flanking Active TSS	Fetal Kidney	kidney
25	chr2:212377600-212378400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:212377600-212378600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:212377600-212378600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:212378000-212378200	Enhancers	Fetal Kidney	kidney
29	chr2:212378000-212379000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:212378600-212380600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:212378600-212381600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:212381600-212383000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:212383000-212386600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:212385800-212386600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:212386600-212388200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:212388200-212395200	Weak transcription	Aorta	Aorta
37	chr2:212389800-212390800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:212390800-212391200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:212395200-212395400	Enhancers	Aorta	Aorta
40	chr2:212395400-212419200	Weak transcription	Aorta	Aorta

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