Variant report

Variant	esv3459963
Chromosome Location	chr2:211360858-211368614
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	chr2:211354892..211357468-chr2:211361761..211363923,2	MCF-7	breast:
2	chr2:211367674..211368316-chr2:211441975..211442884,2	MCF-7	breast:

Extended variants
information (count: 293 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573894396	chr2:211360870-211360871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530187694	chr2:211360871-211360872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546679759	chr2:211360873-211360874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73071736	chr2:211360906-211360907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538644596	chr2:211360911-211360912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10932337	chr2:211360975-211360976	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569184154	chr2:211361012-211361013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538082273	chr2:211361072-211361073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554717465	chr2:211361104-211361105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577789890	chr2:211361140-211361141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75224770	chr2:211361195-211361196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539904438	chr2:211361207-211361208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553579902	chr2:211361282-211361283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576819842	chr2:211361292-211361293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189247548	chr2:211361328-211361329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77785420	chr2:211361342-211361343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531603444	chr2:211361370-211361371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140627306	chr2:211361376-211361377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542066727	chr2:211361379-211361380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4673535	chr2:211361396-211361397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561817029	chr2:211361400-211361401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530226950	chr2:211361424-211361425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114778799	chr2:211361464-211361465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566845728	chr2:211361492-211361493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4672580	chr2:211361498-211361499	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs552271256	chr2:211361515-211361516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181437699	chr2:211361516-211361517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530515549	chr2:211361529-211361530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4672581	chr2:211361541-211361542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs554754435	chr2:211361552-211361553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4672582	chr2:211361554-211361555	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs538739988	chr2:211361559-211361560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369837829	chr2:211361568-211361569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534127973	chr2:211361572-211361573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553860097	chr2:211361585-211361586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185729730	chr2:211361594-211361595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539434778	chr2:211361631-211361632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374650066	chr2:211361687-211361688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555857483	chr2:211361692-211361693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200215891	chr2:211361718-211361719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190106102	chr2:211361719-211361720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542105403	chr2:211361727-211361728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529513799	chr2:211361799-211361800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6751103	chr2:211361821-211361822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149534888	chr2:211361859-211361860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572314700	chr2:211361900-211361901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77447834	chr2:211361918-211361919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180953042	chr2:211361959-211361960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566104212	chr2:211361969-211361970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144156170	chr2:211362009-211362010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211343400-211363600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:211352200-211361000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:211360600-211361600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:211360800-211361400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:211360800-211361400	Enhancers	Dnd41	blood
6	chr2:211360800-211361600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:211361000-211361200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:211361000-211361400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:211361000-211361400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:211361200-211361400	Enhancers	Brain Angular Gyrus	brain
11	chr2:211361400-211363400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:211361400-211367400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:211363400-211364200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:211363400-211364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:211363400-211364400	ZNF genes & repeats	NHEK	skin
16	chr2:211363400-211364600	ZNF genes & repeats	HMEC	breast
17	chr2:211363400-211365800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:211363600-211363800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:211363600-211364000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:211363600-211364000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:211363600-211364400	ZNF genes & repeats	Lung	lung
22	chr2:211363600-211364600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:211363600-211364600	ZNF genes & repeats	Ovary	ovary
24	chr2:211363800-211364600	Enhancers	Brain Anterior Caudate	brain
25	chr2:211363800-211364600	Enhancers	Brain Substantia Nigra	brain
26	chr2:211364000-211364200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr2:211364000-211364600	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:211364000-211366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:211364200-211364600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:211364200-211364600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:211364200-211370200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:211364600-211365400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:211364600-211365400	Weak transcription	Ovary	ovary
34	chr2:211364600-211366800	Weak transcription	Brain Substantia Nigra	brain
35	chr2:211364600-211367400	Weak transcription	Brain Anterior Caudate	brain
36	chr2:211364600-211367400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:211364600-211368000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:211364600-211368800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:211365000-211365600	Enhancers	Fetal Intestine Large	intestine
40	chr2:211365000-211365800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr2:211365000-211368200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:211365200-211365800	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:211365400-211365600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:211365400-211366000	ZNF genes & repeats	Ovary	ovary
45	chr2:211365600-211367600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:211365600-211367800	Weak transcription	Fetal Intestine Large	intestine
47	chr2:211365800-211366000	Enhancers	Hela-S3	cervix
48	chr2:211365800-211367800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:211365800-211368000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:211366000-211368000	Weak transcription	Stomach Mucosa	stomach

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