Variant report

Variant	nsv821890
Chromosome Location	chr2:210034780-210044146
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	chr2:210037462-210037833	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:210040328-210040574	HepG2	liver:	n/a	n/a
3	CTCF	chr2:210043941-210044018	ProgFib	skin:	n/a	n/a
4	CTCF	chr2:210036329-210036409	GM10248	blood:	n/a	n/a
5	POLR2A	chr2:210043130-210043225	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr2:210043621-210043635	HepG2	liver:	n/a	n/a
7	STAT3	chr2:210040556-210040570	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:210042371-210042421	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF143	chr2:210035237-210035257	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDH1-4	chr2:210044077-210044193	NONHSAT076653
2	lnc-MAP2-3	chr2:210043690-210045847	NONHSAT076655

Variant related genes	Relation type
MEAF6P1	TF binding region
PKP4P1	TF binding region

Extended variants
information (count: 220 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543733825	chr2:210038806-210038807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566783882	chr2:210038860-210038861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530166078	chr2:210038861-210038862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536664128	chr2:210038874-210038875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560673529	chr2:210038875-210038876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373318377	chr2:210038877-210038878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184542733	chr2:210038898-210038899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561438016	chr2:210038999-210039000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552757268	chr2:210039007-210039008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569401486	chr2:210039022-210039023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146090797	chr2:210039039-210039040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116367278	chr2:210039086-210039087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6716962	chr2:210039093-210039094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567714560	chr2:210039166-210039167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533569864	chr2:210039175-210039176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138758489	chr2:210039178-210039179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576894271	chr2:210039183-210039184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76936786	chr2:210039190-210039191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201221030	chr2:210039191-210039192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551332222	chr2:210039192-210039193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75736271	chr2:210039193-210039194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76776635	chr2:210039213-210039214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370488162	chr2:210039222-210039223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573903239	chr2:210039264-210039265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188511214	chr2:210039374-210039375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373291902	chr2:210039391-210039392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149407103	chr2:210039411-210039412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181331064	chr2:210039437-210039438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559493094	chr2:210039449-210039450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533106473	chr2:210039457-210039458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551079776	chr2:210039466-210039467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576199831	chr2:210039473-210039474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542140315	chr2:210039474-210039475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116980368	chr2:210039499-210039500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535369358	chr2:210039500-210039501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148591900	chr2:210039512-210039513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185968934	chr2:210039531-210039532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141992664	chr2:210039644-210039645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531886902	chr2:210039677-210039678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147148644	chr2:210039679-210039680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531834200	chr2:210039683-210039684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550470502	chr2:210039700-210039701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72998540	chr2:210039705-210039706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555384933	chr2:210039826-210039827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190881021	chr2:210039905-210039906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182309514	chr2:210039944-210039945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535664268	chr2:210039949-210039950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187377767	chr2:210039960-210039961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190478966	chr2:210039970-210039971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182749173	chr2:210040001-210040002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210038800-210056200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:210041400-210043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:210043400-210044200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links