Variant report

Variant	nsv979383
Chromosome Location	chr2:212534182-212537755
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	CEBPB	chr2:212535291-212535822	HepG2	liver:	n/a	n/a
2	MAFF	chr2:212536721-212537082	HepG2	liver:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
3	MAFF	chr2:212536745-212537040	K562	blood:	n/a	chr2:212536892-212536910 chr2:212536898-212536912
4	MAFK	chr2:212536822-212537072	Hela-S3	cervix:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
5	MAFK	chr2:212536719-212537087	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
6	MAFK	chr2:212536725-212537042	HepG2	liver:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
7	MAFK	chr2:212536795-212537011	K562	blood:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
8	MAFK	chr2:212536614-212537084	IMR90	lung:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
9	MAFK	chr2:212536743-212537023	H1-hESC	embryonic stem cell:	n/a	chr2:212536895-212536906 chr2:212536898-212536912 chr2:212536894-212536909 chr2:212536897-212536913 chr2:212536895-212536915
10	POLR2A	chr2:212537194-212537300	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr2:212535357-212535430	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ERBB4	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78768378	chr2:212534200-212534201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546617918	chr2:212534247-212534248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543081238	chr2:212534301-212534302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560219792	chr2:212534342-212534343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528765884	chr2:212534349-212534350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552067588	chr2:212534355-212534356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188836630	chr2:212534399-212534400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537653232	chr2:212534480-212534481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544019273	chr2:212534486-212534487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181339338	chr2:212534510-212534511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12476100	chr2:212534520-212534521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536395054	chr2:212534530-212534531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552924781	chr2:212534538-212534539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186168828	chr2:212534556-212534557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538653921	chr2:212534586-212534587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79071137	chr2:212534597-212534598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575306470	chr2:212534631-212534632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544388068	chr2:212534636-212534637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35712703	chr2:212534645-212534646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561115863	chr2:212534648-212534649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141653210	chr2:212534752-212534753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146177629	chr2:212534794-212534795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529710326	chr2:212534826-212534827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191072191	chr2:212534827-212534828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182439974	chr2:212534828-212534829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547796483	chr2:212534857-212534858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532156763	chr2:212534858-212534859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186366213	chr2:212534871-212534872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563154077	chr2:212534884-212534885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72945031	chr2:212534921-212534922	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531149222	chr2:212534999-212535000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528762306	chr2:212535055-212535056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567545187	chr2:212535071-212535072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72945032	chr2:212535078-212535079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs571787685	chr2:212535104-212535105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1851168	chr2:212535145-212535146	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115174601	chr2:212535158-212535159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190815422	chr2:212535165-212535166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532131613	chr2:212535192-212535193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183013063	chr2:212535203-212535204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368996727	chr2:212535210-212535211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187324009	chr2:212535281-212535282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139144795	chr2:212535299-212535300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574699905	chr2:212535319-212535320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376411724	chr2:212535345-212535346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1818750	chr2:212535359-212535360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576722547	chr2:212535386-212535387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545773587	chr2:212535452-212535453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536710550	chr2:212535509-212535510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577446852	chr2:212535612-212535613	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212467400-212546800	Weak transcription	Aorta	Aorta
2	chr2:212521200-212540400	Weak transcription	Fetal Heart	heart
3	chr2:212521400-212540800	Weak transcription	Fetal Kidney	kidney
4	chr2:212522800-212537800	Weak transcription	Pancreas	Pancrea
5	chr2:212528800-212545200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:212530200-212546800	Weak transcription	Left Ventricle	heart
7	chr2:212533800-212534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:212534600-212534800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:212534800-212535000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:212535000-212535400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:212535000-212536600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:212536600-212537800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212537600-212538000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links