Variant report

Variant	esv3516679
Chromosome Location	chr5:119036703-119042801
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	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs331902	chr5:119041217-119041218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112484099	chr5:119041240-119041241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371201357	chr5:119041264-119041265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567264143	chr5:119041269-119041270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148326681	chr5:119041314-119041315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181351221	chr5:119041319-119041320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200456608	chr5:119041348-119041349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569796529	chr5:119041398-119041399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114239293	chr5:119041445-119041446	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558431227	chr5:119041474-119041475	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185428654	chr5:119041504-119041505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191158322	chr5:119041505-119041506	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs180775275	chr5:119041514-119041515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573991061	chr5:119041521-119041522	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187501432	chr5:119041540-119041541	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531724621	chr5:119041542-119041543	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367889544	chr5:119041551-119041552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538058726	chr5:119041568-119041569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564784402	chr5:119041603-119041604	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs527447198	chr5:119041604-119041605	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs141238831	chr5:119041605-119041606	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4895202	chr5:119041644-119041645	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201451052	chr5:119041691-119041692	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113544368	chr5:119041694-119041695	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139161678	chr5:119041710-119041711	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569662072	chr5:119041722-119041723	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs538788230	chr5:119041754-119041755	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577295524	chr5:119041770-119041771	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538380045	chr5:119041772-119041773	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs142648279	chr5:119041774-119041775	ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534096411	chr5:119041801-119041802	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554468582	chr5:119041810-119041811	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs191838332	chr5:119041898-119041899	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs536935561	chr5:119041929-119041930	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1968231	chr5:119041941-119041942	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1972628	chr5:119041965-119041966	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571755764	chr5:119041967-119041968	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368045738	chr5:119041968-119041969	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565004199	chr5:119041983-119041984	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75197699	chr5:119041989-119041990	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372768984	chr5:119041999-119042000	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146042134	chr5:119042008-119042009	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs371848834	chr5:119042029-119042030	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550097757	chr5:119042035-119042036	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563278507	chr5:119042036-119042037	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115742722	chr5:119042063-119042064	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183060311	chr5:119042064-119042065	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540451335	chr5:119042076-119042077	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562415800	chr5:119042077-119042078	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565607593	chr5:119042079-119042080	ZNF genes & repeats Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119041200-119041400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:119041200-119041600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:119041400-119041800	Enhancers	Colonic Mucosa	Colon
4	chr5:119041400-119041800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr5:119041600-119042200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:119041800-119042200	Weak transcription	Colonic Mucosa	Colon
7	chr5:119041800-119042200	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr5:119042000-119042200	Enhancers	Lung	lung
9	chr5:119042200-119042400	Active TSS	Colonic Mucosa	Colon
10	chr5:119042200-119042400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
11	chr5:119042200-119042400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr5:119042200-119044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:119042400-119042600	Flanking Active TSS	Colonic Mucosa	Colon
14	chr5:119042400-119042600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:119042400-119043600	Weak transcription	Lung	lung

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