Variant report

Variant	nsv980018
Chromosome Location	chr3:98036829-98044703
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	chr3:98043669..98046299-chr3:98046855..98049975,3	K562	blood:

Extended variants
information (count: 298 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202049859	chr3:98036859-98036860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4857371	chr3:98036863-98036864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556154601	chr3:98036875-98036876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61510658	chr3:98036906-98036907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535559008	chr3:98036912-98036913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11289039	chr3:98036913-98036914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571943997	chr3:98036958-98036959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535197583	chr3:98037029-98037030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13080412	chr3:98037111-98037112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs79181903	chr3:98037140-98037141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201431674	chr3:98037167-98037168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546022142	chr3:98037236-98037237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16839655	chr3:98037282-98037283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs370550913	chr3:98037319-98037320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140174118	chr3:98037326-98037327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543697797	chr3:98037345-98037346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563274715	chr3:98037388-98037389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374528378	chr3:98037396-98037397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183269561	chr3:98037421-98037422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143942453	chr3:98037449-98037450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146878738	chr3:98037452-98037453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77963223	chr3:98037453-98037454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540564712	chr3:98037507-98037508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528175476	chr3:98037510-98037511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370708914	chr3:98037527-98037528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141090988	chr3:98037537-98037538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561680937	chr3:98037538-98037539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139656832	chr3:98037599-98037600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116071336	chr3:98037608-98037609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533448982	chr3:98037613-98037614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550019135	chr3:98037641-98037642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555472536	chr3:98037660-98037661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369922996	chr3:98037700-98037701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187634563	chr3:98037726-98037727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117438624	chr3:98037829-98037830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150039741	chr3:98037885-98037886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75556996	chr3:98037938-98037939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546562187	chr3:98037964-98037965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192539549	chr3:98037965-98037966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73142981	chr3:98038001-98038002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577874040	chr3:98038011-98038012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61274720	chr3:98038026-98038027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398062606	chr3:98038028-98038029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533484837	chr3:98038032-98038033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6805802	chr3:98038042-98038043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145231377	chr3:98038044-98038045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60249448	chr3:98038071-98038072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542292720	chr3:98038082-98038083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559268276	chr3:98038087-98038088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528386915	chr3:98038089-98038090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98028400-98039400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:98030800-98041800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:98036200-98041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:98037000-98039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:98037000-98040000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:98038600-98041600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:98038800-98045200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:98039400-98039600	Genic enhancers	H9 Cell Line	embryonic stem cell
9	chr3:98039400-98040600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:98039600-98040800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr3:98040000-98041000	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr3:98040600-98041400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:98040800-98041200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:98041000-98041400	Enhancers	GM12878-XiMat	blood
15	chr3:98041000-98041600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:98041200-98041400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:98041200-98041400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr3:98041200-98042200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:98041200-98043800	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:98041200-98045800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr3:98041400-98041800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:98041400-98042000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:98041400-98042600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:98041400-98044200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:98041400-98044400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr3:98041400-98045600	Weak transcription	GM12878-XiMat	blood
27	chr3:98041600-98042000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:98041600-98042000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:98041600-98045000	Active TSS	H1 Cell Line	embryonic stem cell
30	chr3:98041800-98042000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:98041800-98042600	Enhancers	HepG2	liver
32	chr3:98041800-98044400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr3:98042000-98042400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:98042000-98043600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:98042000-98044400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:98042000-98044600	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr3:98042200-98044000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:98042400-98042600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:98042600-98043600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr3:98042600-98043800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:98042600-98044200	Weak transcription	HepG2	liver
42	chr3:98043600-98044000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr3:98043600-98044000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:98043600-98044400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:98043800-98044000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr3:98043800-98044000	Active TSS	Pancreas	Pancrea
47	chr3:98043800-98044200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:98043800-98044200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:98043800-98044200	Enhancers	Gastric	stomach
50	chr3:98044000-98044200	Enhancers	HUES64 Cell Line	embryonic stem cell

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