Variant report

Variant	nsv980701
Chromosome Location	chr5:97912230-97914249
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs78533518	chr5:97912247-97912248	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs187522276	chr5:97912249-97912250	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs199662537	chr5:97912256-97912257	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529894614	chr5:97912269-97912270	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs541998777	chr5:97912270-97912271	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560051530	chr5:97912278-97912279	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs79932968	chr5:97912282-97912283	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs80139052	chr5:97912293-97912294	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs76250403	chr5:97912312-97912313	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111628541	chr5:97912313-97912314	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200657892	chr5:97912319-97912320	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs76077991	chr5:97912321-97912322	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs79515811	chr5:97912333-97912334	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570481130	chr5:97912334-97912335	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs531314956	chr5:97912340-97912341	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141686342	chr5:97912344-97912345	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs139018921	chr5:97912345-97912346	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199599901	chr5:97912374-97912375	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200521192	chr5:97912382-97912383	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144487222	chr5:97912386-97912387	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549928899	chr5:97912400-97912401	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs190473642	chr5:97912402-97912403	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144711397	chr5:97912415-97912416	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs111671313	chr5:97912433-97912434	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200146704	chr5:97912435-97912436	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78457539	chr5:97912440-97912441	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75615006	chr5:97912462-97912463	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535708710	chr5:97912464-97912465	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112747427	chr5:97912468-97912469	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs145880319	chr5:97912475-97912476	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs202136076	chr5:97912476-97912477	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111385269	chr5:97912487-97912488	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs554353970	chr5:97912490-97912491	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200959954	chr5:97912492-97912493	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs75738214	chr5:97912515-97912516	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79076947	chr5:97912518-97912519	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs27027	chr5:97912527-97912528	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147393004	chr5:97912535-97912536	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113610742	chr5:97912560-97912561	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs74719563	chr5:97912568-97912569	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2401542	chr5:97912588-97912589	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs112116344	chr5:97912598-97912599	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs145779869	chr5:97912605-97912606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183346600	chr5:97912612-97912613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370858130	chr5:97912632-97912633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374493255	chr5:97912643-97912644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377765021	chr5:97912647-97912648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371476466	chr5:97912668-97912669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557994941	chr5:97912673-97912674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373786070	chr5:97912678-97912679	Weak 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97907400-97912400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:97909200-97912600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97912000-97912400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:97912000-97912400	ZNF genes & repeats	Gastric	stomach
5	chr5:97912000-97912400	ZNF genes & repeats	Pancreas	Pancrea
6	chr5:97912000-97912400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr5:97912000-97912600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:97912000-97912600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:97912000-97912600	ZNF genes & repeats	Right Atrium	heart
10	chr5:97912000-97912600	Enhancers	Dnd41	blood
11	chr5:97912200-97912400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr5:97912200-97912400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:97912200-97912400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
14	chr5:97912400-97912600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:97912400-97912600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:97912400-97912600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:97912400-97912600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:97912400-97912600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr5:97912400-97912600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr5:97912400-97912600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr5:97912400-97912600	Flanking Active TSS	K562	blood
22	chr5:97912600-97913400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97912600-97916000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:97913400-97915400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:97914200-97917600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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