Variant report

Variant	esv275206
Chromosome Location	chr5:145016621-145036932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 580 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6892552	chr5:145016621-145016622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536171143	chr5:145016703-145016704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374410967	chr5:145016712-145016713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555817260	chr5:145016780-145016781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148128635	chr5:145016796-145016797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575775486	chr5:145016799-145016800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141939717	chr5:145016800-145016801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573847891	chr5:145016896-145016897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114652832	chr5:145016903-145016904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150678621	chr5:145016928-145016929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562949388	chr5:145016990-145016991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575821749	chr5:145017062-145017063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554452303	chr5:145017072-145017073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544689548	chr5:145017073-145017074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564402784	chr5:145017080-145017081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139763181	chr5:145017111-145017112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149381867	chr5:145017114-145017115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540254809	chr5:145017144-145017145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115222262	chr5:145017185-145017186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544516901	chr5:145017249-145017250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529505303	chr5:145017277-145017278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542829402	chr5:145017279-145017280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77942747	chr5:145017282-145017283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531769879	chr5:145017354-145017355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374956933	chr5:145017373-145017374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547110066	chr5:145017374-145017375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61340437	chr5:145017408-145017409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs571247591	chr5:145017414-145017415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556017805	chr5:145017420-145017421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577717004	chr5:145017423-145017424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372184967	chr5:145017437-145017438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139523028	chr5:145017449-145017450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567558722	chr5:145017477-145017478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143441471	chr5:145017479-145017480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556413824	chr5:145017519-145017520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569893139	chr5:145017520-145017521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146753904	chr5:145017573-145017574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558271944	chr5:145017616-145017617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148494546	chr5:145017646-145017647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540631719	chr5:145017663-145017664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190030193	chr5:145017664-145017665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561712852	chr5:145017689-145017690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542944227	chr5:145017690-145017691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562829004	chr5:145017716-145017717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77133741	chr5:145017721-145017722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140758365	chr5:145017739-145017740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145893279	chr5:145017740-145017741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62392265	chr5:145017793-145017794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs138236300	chr5:145026405-145026406	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544815371	chr5:145026407-145026408	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:145016000-145017400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:145016600-145017800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:145026400-145026600	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr5:145026400-145026600	Weak transcription	Ovary	ovary
5	chr5:145026400-145027000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:145026400-145027200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:145026400-145027400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:145026400-145027600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:145026400-145027600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:145026400-145027600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:145026600-145026800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:145026600-145026800	ZNF genes & repeats	Ovary	ovary
13	chr5:145026600-145027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:145026600-145027600	Strong transcription	Fetal Intestine Small	intestine
15	chr5:145026600-145027800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:145026800-145027400	Enhancers	Osteobl	bone
17	chr5:145026800-145041000	Weak transcription	Ovary	ovary
18	chr5:145027000-145027400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:145027000-145027600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:145027000-145027600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:145027400-145027600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:145027600-145030600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:145028400-145060400	Weak transcription	Pancreas	Pancrea
24	chr5:145033200-145051400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:145034200-145046400	Weak transcription	Duodenum Mucosa	Duodenum

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