Variant report

Variant	nsv818163
Chromosome Location	chr3:99005053-99015616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs185406685	chr3:99005247-99005248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562796634	chr3:99005298-99005299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115082708	chr3:99005301-99005302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139389944	chr3:99005302-99005303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140637433	chr3:99005307-99005308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190661395	chr3:99005346-99005347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149978918	chr3:99005347-99005348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572204726	chr3:99005392-99005393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527802044	chr3:99005397-99005398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182879689	chr3:99005432-99005433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16840859	chr3:99005453-99005454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13069076	chr3:99005457-99005458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187217478	chr3:99005464-99005465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550144613	chr3:99005489-99005490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563479340	chr3:99005552-99005553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569840109	chr3:99005580-99005581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192542178	chr3:99005608-99005609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561197266	chr3:99005628-99005629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183712505	chr3:99005632-99005633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532464004	chr3:99005652-99005653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114562604	chr3:99005672-99005673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557391601	chr3:99005695-99005696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150040212	chr3:99005708-99005709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114761131	chr3:99005714-99005715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556858634	chr3:99005718-99005719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145319798	chr3:99005739-99005740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376243256	chr3:99005795-99005796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28417310	chr3:99012823-99012824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4635743	chr3:99012836-99012837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544336726	chr3:99012844-99012845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560962895	chr3:99012849-99012850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4613497	chr3:99012880-99012881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376994707	chr3:99012920-99012921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371257079	chr3:99012969-99012970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568486793	chr3:99012984-99012985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7646279	chr3:99012992-99012993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148219384	chr3:99012993-99012994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112486145	chr3:99012995-99012996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568974037	chr3:99013023-99013024	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs372488562	chr3:99013030-99013031	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551740538	chr3:99013033-99013034	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571819866	chr3:99013051-99013052	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs537235922	chr3:99013055-99013056	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs536867693	chr3:99013098-99013099	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs558357012	chr3:99013101-99013102	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs2880156	chr3:99013105-99013106	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534958166	chr3:99013116-99013117	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs552973919	chr3:99013120-99013121	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114223669	chr3:99013123-99013124	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140095876	chr3:99013131-99013132	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99005200-99005600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:99005200-99005600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:99005200-99005800	Enhancers	HUVEC	blood vessel
4	chr3:99012800-99013000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:99013000-99013200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:99013000-99013200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr3:99013000-99013200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:99013000-99013200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:99013000-99013200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr3:99013000-99013200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:99013000-99013200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr3:99013000-99013200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:99013000-99013200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr3:99013000-99013200	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr3:99013000-99013200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:99013000-99013200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:99013000-99013200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr3:99013000-99013200	Active TSS	Dnd41	blood
19	chr3:99013000-99013200	Active TSS	NHEK	skin
20	chr3:99013000-99013400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:99013000-99013400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:99013000-99013400	Enhancers	HUVEC	blood vessel
23	chr3:99013000-99013400	Enhancers	Osteobl	bone
24	chr3:99013000-99013600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:99013000-99013600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:99013000-99013600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:99013000-99013600	Enhancers	HMEC	breast
28	chr3:99013000-99013600	Enhancers	NHLF	lung
29	chr3:99013000-99013800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:99013000-99014000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:99013200-99013400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr3:99013200-99013400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:99013200-99013400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:99013200-99013400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:99013200-99013400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:99013200-99013400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr3:99013200-99013400	Flanking Active TSS	Dnd41	blood
38	chr3:99013200-99013400	Enhancers	NHDF-Ad	bronchial
39	chr3:99013200-99013400	Flanking Active TSS	NHEK	skin
40	chr3:99013200-99013600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:99013200-99013600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:99013200-99013600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:99013200-99013600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:99013200-99013600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:99013200-99013600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:99013200-99013600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr3:99013200-99013600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr3:99013200-99013600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:99013200-99013600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:99013200-99013600	Enhancers	Fetal Stomach	stomach

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