Variant report

Variant	nsv532630
Chromosome Location	chr3:102481788-102677637
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:102476779..102479193-chr3:102480269..102482631,2	K562	blood:
2	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
3	chr3:102482837..102485158-chr3:102486260..102488498,2	MCF-7	breast:
4	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
5	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
6	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
7	chr14:50456042..50458929-chr3:102668264..102669764,2	MCF-7	breast:
8	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZPLD1-4	chr3:102651432-102651473	FPKM1_group_21624_transcript_1
2	lnc-ZPLD1-2	chr3:102636251-102636282	XLOC_002743
3	lnc-ZPLD1-4	chr3:102644557-102644725	FPKM1_group_21624_transcript_1
4	lnc-ZPLD1-4	chr3:102644557-102644725	NONHSAT090938
5	lnc-ZPLD1-4	chr3:102651432-102651851	NONHSAT090938

No data

Variant related genes	Relation type
ARHGAP12	miRNA target sites

Extended variants
information (count: 1245 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186912706	chr3:102483028-102483029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191695593	chr3:102483029-102483030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58165786	chr3:102483033-102483034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537785298	chr3:102483212-102483213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76227961	chr3:102483235-102483236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538137751	chr3:102483259-102483260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369633089	chr3:102483283-102483284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75545631	chr3:102483312-102483313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183089779	chr3:102483361-102483362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188074003	chr3:102483362-102483363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553932661	chr3:102483460-102483461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1498073	chr3:102483542-102483543	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373209262	chr3:102483543-102483544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542269397	chr3:102483565-102483566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1498074	chr3:102483567-102483568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1511612	chr3:102483587-102483588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554052817	chr3:102492445-102492446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577076015	chr3:102492455-102492456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540919734	chr3:102492477-102492478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553250779	chr3:102492482-102492483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75532434	chr3:102492510-102492511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185587860	chr3:102492523-102492524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563351660	chr3:102492539-102492540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200404949	chr3:102492544-102492545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201716440	chr3:102492545-102492546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530495890	chr3:102492610-102492611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545802088	chr3:102492703-102492704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115898553	chr3:102492752-102492753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528787328	chr3:102492753-102492754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145773571	chr3:102492786-102492787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372720057	chr3:102492791-102492792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529422861	chr3:102492799-102492800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550730934	chr3:102492802-102492803	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572270149	chr3:102492808-102492809	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7614921	chr3:102492833-102492834	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147790718	chr3:102492841-102492842	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558134993	chr3:102492869-102492870	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140212978	chr3:102492885-102492886	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190787913	chr3:102492928-102492929	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370149303	chr3:102492957-102492958	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs553289793	chr3:102493024-102493025	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574712629	chr3:102493059-102493060	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182079674	chr3:102493102-102493103	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150346014	chr3:102493103-102493104	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs34476172	chr3:102493146-102493147	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575310653	chr3:102493173-102493174	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138049208	chr3:102493181-102493182	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541329630	chr3:102493189-102493190	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs207463410	chr3:102493229-102493230	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564878974	chr3:102493270-102493271	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102483000-102483400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr3:102483000-102483600	Enhancers	Stomach Mucosa	stomach
3	chr3:102492400-102492800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:102492800-102493400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:102493400-102493600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr3:102507400-102509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:102507600-102508400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:102508000-102509800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:102508200-102508400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:102508200-102508600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr3:102508200-102508600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:102508200-102508600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:102508400-102512200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:102508400-102518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:102508600-102509600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:102509000-102511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:102509400-102510000	Enhancers	NH-A	brain
18	chr3:102509600-102510000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:102509800-102511400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:102510000-102511000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:102510000-102511000	Weak transcription	NH-A	brain
22	chr3:102510000-102511200	Enhancers	NHDF-Ad	bronchial
23	chr3:102510400-102511400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:102510400-102511600	Enhancers	Fetal Lung	lung
25	chr3:102510800-102511400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:102511000-102511200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr3:102511000-102511400	Enhancers	NH-A	brain
28	chr3:102511000-102512000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr3:102511200-102511600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:102511400-102512000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:102511400-102512600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:102511600-102512000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:102511600-102515400	Weak transcription	Fetal Lung	lung
34	chr3:102512600-102512800	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr3:102512800-102513000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
36	chr3:102515400-102516400	Enhancers	Fetal Lung	lung
37	chr3:102522000-102522400	Enhancers	Fetal Stomach	stomach
38	chr3:102531200-102532000	Enhancers	Fetal Lung	lung
39	chr3:102532000-102534000	Weak transcription	Fetal Lung	lung
40	chr3:102534000-102534400	Enhancers	Fetal Lung	lung
41	chr3:102547800-102548800	Weak transcription	Gastric	stomach
42	chr3:102548800-102549200	Strong transcription	Gastric	stomach
43	chr3:102549200-102550000	ZNF genes & repeats	Gastric	stomach
44	chr3:102549400-102549800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:102549600-102550200	Enhancers	Pancreas	Pancrea
46	chr3:102549800-102550000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr3:102566200-102566800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:102566400-102566800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:102566400-102567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:102566400-102567200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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