Variant report

Variant	esv18292
Chromosome Location	chr3:60055280-60057155
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	chr3:60052745..60054653-chr3:60055819..60059567,3	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550847611	chr3:60055317-60055318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2630181	chr3:60055347-60055348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs372058361	chr3:60055353-60055354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375485817	chr3:60055371-60055372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2736811	chr3:60055378-60055379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529879918	chr3:60055388-60055389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9874674	chr3:60055392-60055393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182762394	chr3:60055403-60055404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534283002	chr3:60055408-60055409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74819812	chr3:60055419-60055420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371011647	chr3:60055439-60055440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2736812	chr3:60055454-60055455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538160829	chr3:60055473-60055474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556408400	chr3:60055474-60055475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536493623	chr3:60055510-60055511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535700560	chr3:60055528-60055529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544511047	chr3:60055530-60055531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565781522	chr3:60055572-60055573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554329594	chr3:60055595-60055596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9819602	chr3:60055631-60055632	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540320124	chr3:60055662-60055663	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187001962	chr3:60055666-60055667	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576866783	chr3:60055667-60055668	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544532510	chr3:60055668-60055669	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562742715	chr3:60055683-60055684	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2736813	chr3:60055713-60055714	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530370920	chr3:60055748-60055749	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370150494	chr3:60055756-60055757	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs207463156	chr3:60055762-60055763	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541690961	chr3:60055768-60055769	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560282060	chr3:60055771-60055772	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2630182	chr3:60055788-60055789	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs552602523	chr3:60055804-60055805	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2630183	chr3:60055846-60055847	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377335971	chr3:60055848-60055849	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370356982	chr3:60055873-60055874	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35153948	chr3:60055900-60055901	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2630184	chr3:60055914-60055915	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73830677	chr3:60055917-60055918	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143510282	chr3:60055944-60055945	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534804680	chr3:60056006-60056007	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552233106	chr3:60056021-60056022	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145617980	chr3:60056028-60056029	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17062066	chr3:60056054-60056055	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558650863	chr3:60056076-60056077	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2630193	chr3:60056084-60056085	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148465403	chr3:60056126-60056127	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2736815	chr3:60056146-60056147	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191471557	chr3:60056188-60056189	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183949757	chr3:60056189-60056190	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Cancer	18162546	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Glioblastoma multiforme	21569311	CNVD
Hepatocellular carcinoma	22267523	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60048800-60059400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:60051600-60062000	Weak transcription	Aorta	Aorta
3	chr3:60051800-60056200	Weak transcription	Thymus	Thymus
4	chr3:60051800-60058200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr3:60051800-60063000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:60052000-60058400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr3:60052000-60059600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr3:60052200-60056600	Weak transcription	Fetal Thymus	thymus
9	chr3:60052200-60058000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:60052400-60055600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr3:60052400-60055800	Weak transcription	Primary T cells from cord blood	blood
12	chr3:60054200-60055400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr3:60055000-60055600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:60055200-60055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:60055200-60055400	Weak transcription	Dnd41	blood
16	chr3:60055200-60055800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:60055400-60055600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:60055400-60055600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr3:60055400-60055600	Enhancers	Dnd41	blood
20	chr3:60055400-60055800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:60055600-60055800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:60055600-60056400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:60055600-60056600	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr3:60055600-60056600	Genic enhancers	Dnd41	blood
25	chr3:60055600-60057600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:60055800-60056000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr3:60055800-60056600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:60055800-60056600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr3:60055800-60058800	Genic enhancers	Primary T cells from cord blood	blood
30	chr3:60056000-60057800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:60056200-60056400	Enhancers	Thymus	Thymus
32	chr3:60056400-60056600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr3:60056400-60057200	Weak transcription	Thymus	Thymus
34	chr3:60056600-60056800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr3:60056600-60057000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:60056600-60057400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr3:60056600-60057400	Enhancers	Fetal Thymus	thymus
38	chr3:60056600-60057600	Enhancers	Primary B cells from peripheral blood	blood
39	chr3:60056600-60057800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr3:60056600-60058000	Enhancers	Dnd41	blood
41	chr3:60056800-60058400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:60057000-60059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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