Variant report

Variant	esv3380626
Chromosome Location	chr5:147461509-147463557
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	chr5:147449509..147451055-chr5:147462616..147464573,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114950963	chr5:147461606-147461607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150257389	chr5:147461631-147461632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191107954	chr5:147461724-147461725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76687076	chr5:147461731-147461732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398084544	chr5:147461733-147461734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568263578	chr5:147461746-147461747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562487942	chr5:147461770-147461771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11950479	chr5:147461778-147461779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183372746	chr5:147461781-147461782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371640670	chr5:147461860-147461861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10213857	chr5:147461864-147461865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs369206564	chr5:147461942-147461943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527390035	chr5:147462132-147462133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552387209	chr5:147462146-147462147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138952198	chr5:147462150-147462151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552810616	chr5:147462374-147462375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188062314	chr5:147462514-147462515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566186271	chr5:147462546-147462547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142153164	chr5:147462547-147462548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192582746	chr5:147462560-147462561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10059850	chr5:147462582-147462583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs10065129	chr5:147462637-147462638	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs535486013	chr5:147462937-147462938	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574603345	chr5:147462973-147462974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183826854	chr5:147463026-147463027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs74871842	chr5:147463027-147463028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs539509056	chr5:147463094-147463095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs117372858	chr5:147463143-147463144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140625517	chr5:147463169-147463170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs145676038	chr5:147463194-147463195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs187698669	chr5:147463198-147463199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs192687570	chr5:147463202-147463203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184499171	chr5:147463203-147463204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138516087	chr5:147463264-147463265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77384289	chr5:147463273-147463274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190378614	chr5:147463315-147463316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545555317	chr5:147463431-147463432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564324124	chr5:147463432-147463433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79959172	chr5:147463488-147463489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549544534	chr5:147463544-147463545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181203326	chr5:147463555-147463556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147437800-147463800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:147450400-147469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:147450600-147468600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:147450800-147474000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:147451000-147470000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:147454000-147470000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:147455600-147469000	Weak transcription	Esophagus	oesophagus
8	chr5:147457600-147462600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:147462600-147463200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:147462600-147471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:147463200-147466800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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