Variant report

Variant	esv3329676
Chromosome Location	chr2:186972495-186994906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:43453747..43454591-chr2:186974749..186975692,2	HCT-116	colon:
2	chr2:186994332..186996558-chr2:186996994..186999214,2	MCF-7	breast:
3	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:
4	chr2:186983605..186985165-chr2:186986733..186988771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152518	chromatin interactions

Extended variants
information (count: 816 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375642067	chr2:186972708-186972709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188093649	chr2:186972820-186972821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532740167	chr2:186972862-186972863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs66610853	chr2:186972873-186972874	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566091424	chr2:186972874-186972875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374650183	chr2:186972891-186972892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536700619	chr2:186972897-186972898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151191323	chr2:186972899-186972900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573129022	chr2:186972926-186972927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181350958	chr2:186972927-186972928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556129429	chr2:186972933-186972934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577857176	chr2:186972969-186972970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538562869	chr2:186972981-186972982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186358967	chr2:186972988-186972989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189683932	chr2:186973009-186973010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181784756	chr2:186973038-186973039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10177182	chr2:186973078-186973079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370905296	chr2:186973123-186973124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575761604	chr2:186973153-186973154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140339538	chr2:186973168-186973169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150427974	chr2:186973206-186973207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10177351	chr2:186973212-186973213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532801062	chr2:186973236-186973237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535860424	chr2:186973239-186973240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571219084	chr2:186973255-186973256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186849938	chr2:186973285-186973286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191137307	chr2:186973287-186973288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183309413	chr2:186973325-186973326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115671650	chr2:186973326-186973327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537186678	chr2:186973380-186973381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555539769	chr2:186973390-186973391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571356256	chr2:186973395-186973396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538896526	chr2:186973490-186973491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368291945	chr2:186973519-186973520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575697288	chr2:186973546-186973547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185462573	chr2:186973557-186973558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567788167	chr2:186973566-186973567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79797969	chr2:186973571-186973572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12693432	chr2:186973598-186973599	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138394514	chr2:186973630-186973631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374379784	chr2:186973677-186973678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189844443	chr2:186973682-186973683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12328007	chr2:186973684-186973685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73033450	chr2:186973796-186973797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs541678647	chr2:186973800-186973801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143791766	chr2:186973818-186973819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546444114	chr2:186973883-186973884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530462411	chr2:186973889-186973890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182632593	chr2:186973893-186973894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188025668	chr2:186973952-186973953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186962600-186973400	Weak transcription	Pancreas	Pancrea
2	chr2:186966200-186980800	Weak transcription	Small Intestine	intestine
3	chr2:186970400-186981400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:186972200-186974000	Enhancers	HepG2	liver
5	chr2:186972400-186973800	Enhancers	Liver	Liver
6	chr2:186977800-186979600	Weak transcription	Left Ventricle	heart
7	chr2:186978000-186984400	Weak transcription	Ovary	ovary
8	chr2:186978200-186981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:186978200-186989400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:186978400-186979000	Weak transcription	Pancreas	Pancrea
11	chr2:186978400-186990800	Weak transcription	Psoas Muscle	Psoas
12	chr2:186978800-186981200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:186979000-186979200	ZNF genes & repeats	Esophagus	oesophagus
14	chr2:186979000-186980000	ZNF genes & repeats	Aorta	Aorta
15	chr2:186979200-186979400	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr2:186979200-186979600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr2:186979200-186980000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:186979200-186980000	ZNF genes & repeats	Gastric	stomach
19	chr2:186979200-186980000	ZNF genes & repeats	Pancreas	Pancrea
20	chr2:186979400-186981400	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:186979400-186983200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:186979600-186979800	ZNF genes & repeats	Esophagus	oesophagus
23	chr2:186979600-186979800	Enhancers	Left Ventricle	heart
24	chr2:186979600-186980000	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr2:186979600-186980200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr2:186979600-186983200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:186979600-186983400	Weak transcription	Primary T cells from cord blood	blood
28	chr2:186979800-186980000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr2:186980000-186980200	Strong transcription	Aorta	Aorta
30	chr2:186980000-186981400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:186980000-186983000	Weak transcription	Fetal Intestine Large	intestine
32	chr2:186980000-186983600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:186980000-186984800	Weak transcription	Pancreas	Pancrea
34	chr2:186980000-186991800	Weak transcription	Gastric	stomach
35	chr2:186980200-186982200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:186980200-186982200	Weak transcription	Aorta	Aorta
37	chr2:186981200-186981600	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr2:186981400-186981600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:186982000-186982400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr2:186982200-186982600	ZNF genes & repeats	Aorta	Aorta
41	chr2:186982200-186982600	Enhancers	Dnd41	blood
42	chr2:186983200-186983800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:186983800-186993600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:186984400-186984600	Enhancers	Ovary	ovary
45	chr2:186984600-186985200	Weak transcription	Ovary	ovary
46	chr2:186988800-186989800	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr2:186988800-186992000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr2:186989000-186989200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:186989000-186990600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr2:186989200-186989800	Enhancers	H1 Cell Line	embryonic stem cell

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