Variant report

Variant	esv2763884
Chromosome Location	chr5:97930840-97935770
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	chr5:97927782..97929943-chr5:97931809..97933564,2	K562	blood:
2	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531914148	chr5:97930860-97930861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371542533	chr5:97930954-97930955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550037478	chr5:97930983-97930984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568165006	chr5:97931060-97931061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs154200	chr5:97931088-97931089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554098602	chr5:97931137-97931138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193076015	chr5:97931141-97931142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566046991	chr5:97931146-97931147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539894017	chr5:97931147-97931148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558489631	chr5:97931154-97931155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550369635	chr5:97931179-97931180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115196393	chr5:97931251-97931252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs35039370	chr5:97931264-97931265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs75987969	chr5:97931283-97931284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs187576860	chr5:97931284-97931285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs541462895	chr5:97931299-97931300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs191682465	chr5:97931329-97931330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560065735	chr5:97931356-97931357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs572058977	chr5:97931357-97931358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs545865519	chr5:97931411-97931412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564366660	chr5:97931415-97931416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531786593	chr5:97931416-97931417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs550102919	chr5:97931428-97931429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs535826492	chr5:97931480-97931481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs183826400	chr5:97931494-97931495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs147649894	chr5:97931500-97931501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs140585937	chr5:97931526-97931527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566031484	chr5:97931572-97931573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188992460	chr5:97931573-97931574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs115530467	chr5:97931593-97931594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs551831994	chr5:97931601-97931602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191964877	chr5:97931637-97931638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538047082	chr5:97931705-97931706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556347048	chr5:97931724-97931725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs144459984	chr5:97931737-97931738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147821470	chr5:97931741-97931742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs535703359	chr5:97931743-97931744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs141291459	chr5:97931763-97931764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141134187	chr5:97931789-97931790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112460415	chr5:97931798-97931799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs571982842	chr5:97931799-97931800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs152979	chr5:97931832-97931833	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs567842416	chr5:97931838-97931839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs17132960	chr5:97931850-97931851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536582408	chr5:97931865-97931866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547256011	chr5:97931910-97931911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs17132958	chr5:97931921-97931922	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs548055473	chr5:97931925-97931926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs111740528	chr5:97931932-97931933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs184257614	chr5:97931960-97931961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97930200-97931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97931200-97932400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97932400-97933800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97933800-97939600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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