Variant report

Variant	esv3359218
Chromosome Location	chr2:209643207-209648805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:209331040..209332088-chr2:209646823..209648108,3	MCF-7	breast:
2	chr2:209522358..209523062-chr2:209647609..209648423,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227430	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536189261	chr2:209645808-209645809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73071875	chr2:209645850-209645851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566265799	chr2:209645864-209645865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534863380	chr2:209645878-209645879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17722201	chr2:209645912-209645913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577760195	chr2:209645933-209645934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537122851	chr2:209645952-209645953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2364688	chr2:209645956-209645957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182340450	chr2:209645957-209645958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374841678	chr2:209645965-209645966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16841776	chr2:209645986-209645987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566989471	chr2:209645991-209645992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149142781	chr2:209646093-209646094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147420342	chr2:209646105-209646106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367546075	chr2:209646108-209646109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11900872	chr2:209646135-209646136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs564303998	chr2:209646191-209646192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143230332	chr2:209646203-209646204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549887874	chr2:209646204-209646205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563294502	chr2:209646225-209646226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11900911	chr2:209646247-209646248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs187772513	chr2:209646264-209646265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371776373	chr2:209646326-209646327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566283998	chr2:209646341-209646342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373968949	chr2:209646360-209646361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375033575	chr2:209646372-209646373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192528365	chr2:209646390-209646391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551713884	chr2:209646438-209646439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148332660	chr2:209646448-209646449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142036988	chr2:209646507-209646508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375551144	chr2:209646524-209646525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537161570	chr2:209646565-209646566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575669395	chr2:209646614-209646615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35874645	chr2:209646636-209646637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573704198	chr2:209646638-209646639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536213403	chr2:209646639-209646640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368479721	chr2:209646673-209646674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6746884	chr2:209646686-209646687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567211490	chr2:209646698-209646699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377003346	chr2:209646699-209646700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184375536	chr2:209646748-209646749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541298150	chr2:209646752-209646753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558229529	chr2:209646753-209646754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539610484	chr2:209646788-209646789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543545904	chr2:209646818-209646819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563331661	chr2:209646903-209646904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369653128	chr2:209646919-209646920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566490379	chr2:209646922-209646923	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371571639	chr2:209646929-209646930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201207488	chr2:209646934-209646935	Weak transcription	Chromatin interactive region	1 gene(s)	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
Bipolar disorder	19114987	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209645800-209646400	Enhancers	Fetal Heart	heart
2	chr2:209645800-209646800	Enhancers	Colon Smooth Muscle	Colon
3	chr2:209646400-209647400	Weak transcription	Fetal Heart	heart
4	chr2:209647800-209648000	Enhancers	Fetal Heart	heart

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