Variant report

Variant	nsv508372
Chromosome Location	chr5:97931331-97948860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:97947803..97949307-chr5:97953669..97956460,2	K562	blood:
2	chr5:97927404..97929282-chr5:97932064..97934664,2	K562	blood:
3	chr5:97927782..97929943-chr5:97931809..97933564,2	K562	blood:

Extended variants
information (count: 700 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560065735	chr5:97931356-97931357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs572058977	chr5:97931357-97931358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545865519	chr5:97931411-97931412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs564366660	chr5:97931415-97931416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs531786593	chr5:97931416-97931417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550102919	chr5:97931428-97931429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs535826492	chr5:97931480-97931481	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183826400	chr5:97931494-97931495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs147649894	chr5:97931500-97931501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140585937	chr5:97931526-97931527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566031484	chr5:97931572-97931573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs188992460	chr5:97931573-97931574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs115530467	chr5:97931593-97931594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551831994	chr5:97931601-97931602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191964877	chr5:97931637-97931638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538047082	chr5:97931705-97931706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556347048	chr5:97931724-97931725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs144459984	chr5:97931737-97931738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147821470	chr5:97931741-97931742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535703359	chr5:97931743-97931744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs141291459	chr5:97931763-97931764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs141134187	chr5:97931789-97931790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112460415	chr5:97931798-97931799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571982842	chr5:97931799-97931800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs152979	chr5:97931832-97931833	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs567842416	chr5:97931838-97931839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs17132960	chr5:97931850-97931851	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536582408	chr5:97931865-97931866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547256011	chr5:97931910-97931911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs17132958	chr5:97931921-97931922	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs548055473	chr5:97931925-97931926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs111740528	chr5:97931932-97931933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs184257614	chr5:97931960-97931961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190769884	chr5:97931979-97931980	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555195478	chr5:97932049-97932050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs182059792	chr5:97932065-97932066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146653781	chr5:97932070-97932071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537511722	chr5:97932097-97932098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10515278	chr5:97932202-97932203	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs151055812	chr5:97932235-97932236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535411822	chr5:97932261-97932262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78318616	chr5:97932270-97932271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565581504	chr5:97932339-97932340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs186098643	chr5:97932343-97932344	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs189013159	chr5:97932344-97932345	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575755201	chr5:97932350-97932351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs563584214	chr5:97932359-97932360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573986840	chr5:97932360-97932361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs181330783	chr5:97932362-97932363	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs185599369	chr5:97932420-97932421	Strong transcription	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97931200-97932400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97932400-97933800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97933800-97939600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:97937800-97938600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:97938000-97938400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:97938400-97940000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:97938600-97940000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:97939600-97940000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:97939800-97940800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:97939800-97941000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:97939800-97941200	Enhancers	NHDF-Ad	bronchial
12	chr5:97939800-97942000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:97940000-97940400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:97940000-97940400	Enhancers	HSMMtube	muscle
15	chr5:97940000-97940600	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:97940000-97940800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:97940000-97941000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:97940000-97941000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:97940000-97941000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:97940000-97941200	Enhancers	Osteobl	bone
21	chr5:97940000-97942000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97940000-97942200	Enhancers	Fetal Intestine Small	intestine
23	chr5:97940000-97943000	Enhancers	Fetal Intestine Large	intestine
24	chr5:97940200-97940600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:97940200-97940800	Enhancers	HSMM	muscle
26	chr5:97940200-97941000	Enhancers	NHLF	lung
27	chr5:97940200-97941200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:97940200-97941200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:97940200-97941400	Enhancers	NH-A	brain
30	chr5:97940400-97940600	Flanking Active TSS	HSMMtube	muscle
31	chr5:97940400-97941000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:97940400-97941000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:97940400-97941000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:97940400-97941000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:97940600-97941000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:97940600-97941000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:97940600-97941600	Enhancers	HSMMtube	muscle
38	chr5:97940600-97949200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr5:97940800-97941000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr5:97940800-97941000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:97941000-97942000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:97941000-97949600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:97941000-97949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:97941200-97948200	Weak transcription	NHDF-Ad	bronchial
45	chr5:97941600-97945800	Weak transcription	HSMMtube	muscle
46	chr5:97942000-97943000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:97942000-97943800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:97943000-97943600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:97943600-97943800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:97943800-97944200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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