Variant report

Variant	nsv979382
Chromosome Location	chr2:210817778-210822038
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	chr2:210820658-210820887	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:210820698-210820936	IMR90	lung:	n/a	n/a
3	CTCF	chr2:210820548-210820608	GM20000	blood:	n/a	n/a
4	FOXP2	chr2:210819097-210819383	SK-N-MC	brain:	n/a	n/a
5	MAFF	chr2:210819930-210820071	HepG2	liver:	n/a	n/a
6	MAFK	chr2:210819897-210820108	HepG2	liver:	n/a	n/a
7	MYC	chr2:210819653-210819748	NB4	blood:	n/a	n/a
8	POLR2A	chr2:210818924-210818944	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:210821504-210821601	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
UNC80	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141896705	chr2:210817794-210817795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569362752	chr2:210817868-210817869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552985259	chr2:210817869-210817870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538485359	chr2:210817879-210817880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555206137	chr2:210817913-210817914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191870323	chr2:210817924-210817925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183695455	chr2:210817925-210817926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372487080	chr2:210818003-210818004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116614140	chr2:210818019-210818020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576799632	chr2:210818052-210818053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186937864	chr2:210818070-210818071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577687004	chr2:210818091-210818092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149262967	chr2:210818107-210818108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543990253	chr2:210818164-210818165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200402122	chr2:210818167-210818168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77017694	chr2:210818271-210818272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369225860	chr2:210818307-210818308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371042797	chr2:210818376-210818377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs56947775	chr2:210818387-210818388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541482220	chr2:210818394-210818395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75147003	chr2:210818414-210818415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190622629	chr2:210818492-210818493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182772201	chr2:210818530-210818531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376198014	chr2:210818538-210818539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147385101	chr2:210818543-210818544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535338076	chr2:210818549-210818550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376131710	chr2:210818582-210818583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569226637	chr2:210818586-210818587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377694955	chr2:210818589-210818590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531853869	chr2:210818609-210818610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs137859316	chr2:210818673-210818674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568695439	chr2:210818750-210818751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187101571	chr2:210818784-210818785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113495418	chr2:210818786-210818787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199648888	chr2:210818798-210818799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571047778	chr2:210818800-210818801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191481355	chr2:210818801-210818802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555894393	chr2:210818840-210818841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575597019	chr2:210818852-210818853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369283517	chr2:210818869-210818870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371393316	chr2:210818950-210818951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16843977	chr2:210818971-210818972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562181883	chr2:210819022-210819023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10713676	chr2:210819057-210819058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74465551	chr2:210819095-210819096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143430186	chr2:210819144-210819145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564450402	chr2:210819209-210819210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577860428	chr2:210819268-210819269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541155095	chr2:210819312-210819313	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs543663031	chr2:210819364-210819365	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210797200-210822800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:210806600-210825400	Weak transcription	Fetal Brain Female	brain
3	chr2:210806800-210825400	Weak transcription	Brain Anterior Caudate	brain
4	chr2:210807000-210818400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210807000-210825000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:210807000-210866000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:210808800-210825400	Weak transcription	Pancreas	Pancrea
8	chr2:210812400-210820800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:210816800-210823600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:210817400-210818800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:210818800-210819000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:210819800-210820200	Enhancers	Fetal Lung	lung
13	chr2:210819800-210820200	Enhancers	Fetal Stomach	stomach
14	chr2:210820200-210823800	Weak transcription	Fetal Lung	lung
15	chr2:210820200-210824000	Weak transcription	Fetal Stomach	stomach
16	chr2:210820800-210821200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:210821000-210821600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:210821200-210824200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:210822000-210822800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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