Variant report

Variant	nsv4929
Chromosome Location	chr5:97988331-98005486
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	chr5:97980901..97982903-chr5:97985969..97988620,2	K562	blood:

Extended variants
information (count: 647 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10038307	chr5:97988334-97988335	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567339155	chr5:97988371-97988372	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146099386	chr5:97988399-97988400	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528725784	chr5:97988400-97988401	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536231144	chr5:97988412-97988413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546790215	chr5:97988430-97988431	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540830961	chr5:97988469-97988470	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140067881	chr5:97988493-97988494	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553021621	chr5:97988498-97988499	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538958167	chr5:97988500-97988501	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557199546	chr5:97988609-97988610	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566753772	chr5:97988652-97988653	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538496876	chr5:97988661-97988662	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536233836	chr5:97988681-97988682	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555082984	chr5:97988704-97988705	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193113051	chr5:97988737-97988738	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143629585	chr5:97988759-97988760	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs152984	chr5:97988778-97988779	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs152985	chr5:97988807-97988808	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368572823	chr5:97988888-97988889	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114159654	chr5:97988986-97988987	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146785429	chr5:97988999-97989000	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57485818	chr5:97989000-97989001	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542249641	chr5:97989027-97989028	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561087162	chr5:97989030-97989031	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs469946	chr5:97989049-97989050	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs152986	chr5:97989178-97989179	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190295529	chr5:97989242-97989243	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10059259	chr5:97989261-97989262	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139233509	chr5:97989263-97989264	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370491473	chr5:97989284-97989285	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181021430	chr5:97989335-97989336	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183736708	chr5:97989362-97989363	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79313902	chr5:97989513-97989514	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188853001	chr5:97989555-97989556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145393388	chr5:97989576-97989577	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560666070	chr5:97989620-97989621	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559065272	chr5:97989642-97989643	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112072951	chr5:97989680-97989681	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs152987	chr5:97989684-97989685	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs152988	chr5:97989721-97989722	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146733368	chr5:97989729-97989730	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575446327	chr5:97989764-97989765	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs152989	chr5:97989835-97989836	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs565158854	chr5:97989851-97989852	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147599735	chr5:97989867-97989868	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539964753	chr5:97989949-97989950	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530976244	chr5:97989958-97989959	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544257287	chr5:97990046-97990047	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10039819	chr5:97990099-97990100	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97988000-97990200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:97990200-97991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:97991000-97995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:97991200-97995600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:97991400-97993600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:97991400-97993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:97991600-97992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:97991600-97993600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:97991800-97992200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:97991800-97992800	Enhancers	Osteobl	bone
11	chr5:97991800-97993000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:97991800-97993200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:97991800-97993600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:97992000-97992200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:97992000-97992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:97992000-97992800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:97992000-97992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:97992000-97992800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:97992000-97993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:97992000-97993400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:97992000-97993600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:97992000-97993600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:97992200-97993400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:97992400-97999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:97992600-97992800	Enhancers	Gastric	stomach
26	chr5:97992800-97994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:97993000-98000000	Weak transcription	Gastric	stomach
28	chr5:97993200-97993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:97993200-97995200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:97993400-97993600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:97993400-97994800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:97993600-97993800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr5:97993600-97994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:97993600-97995000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:97993600-97999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:97993800-97995200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:97994600-97995000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:97994800-97995200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:97994800-97995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:97994800-97995200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:97995000-97995200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:97995200-97995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97995200-97995600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr5:97995400-97995600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:97995600-97999000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:97998800-97999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:97998800-97999400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:97999000-97999800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:97999000-98000600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:97999400-97999600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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