Variant report

Variant	nsv877231
Chromosome Location	chr3:102552341-102649650
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
2	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:
3	chr3:102614501..102616425-chr3:102617335..102619639,2	K562	blood:
4	chr3:102605564..102608047-chr3:102611373..102613671,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ARHGAP12	miRNA target sites

Extended variants
information (count: 415 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141414937	chr3:102566212-102566213	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543290048	chr3:102566248-102566249	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs825342	chr3:102566279-102566280	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145140350	chr3:102566300-102566301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs200672149	chr3:102566318-102566319	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs13315094	chr3:102566326-102566327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs571012652	chr3:102566334-102566335	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs538318490	chr3:102566404-102566405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs114898237	chr3:102566410-102566411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs192559990	chr3:102566423-102566424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536590935	chr3:102566426-102566427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115721053	chr3:102566427-102566428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576621927	chr3:102566430-102566431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs543999519	chr3:102566432-102566433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs9871285	chr3:102566434-102566435	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1705950	chr3:102566438-102566439	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76995416	chr3:102566470-102566471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565449027	chr3:102566488-102566489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139016821	chr3:102566493-102566494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184791979	chr3:102566494-102566495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35442977	chr3:102566502-102566503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs140771717	chr3:102566525-102566526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs143035287	chr3:102566538-102566539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571782549	chr3:102566564-102566565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187520724	chr3:102566587-102566588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549587379	chr3:102566592-102566593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540742396	chr3:102566605-102566606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs12486450	chr3:102566606-102566607	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532103992	chr3:102566610-102566611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547830930	chr3:102566612-102566613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547087842	chr3:102566614-102566615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs565581433	chr3:102566622-102566623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs560508970	chr3:102566644-102566645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs75793792	chr3:102566653-102566654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs35038744	chr3:102566675-102566676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs148214587	chr3:102566678-102566679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529646703	chr3:102566686-102566687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570352375	chr3:102566687-102566688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191992738	chr3:102566697-102566698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs6795812	chr3:102566719-102566720	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577489734	chr3:102566727-102566728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78407331	chr3:102566748-102566749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114768678	chr3:102566749-102566750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs141229731	chr3:102566759-102566760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62272861	chr3:102566764-102566765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111754001	chr3:102566792-102566793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116722403	chr3:102566814-102566815	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs543291137	chr3:102566815-102566816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs114473289	chr3:102566820-102566821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs537782688	chr3:102566860-102566861	ZNF genes & repeats	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
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102566200-102566800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:102566400-102566800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:102566400-102567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:102566400-102567200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr3:102574000-102574200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:102601400-102601600	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:102601800-102602800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:102602800-102603200	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:102603000-102605000	Enhancers	HepG2	liver
10	chr3:102615400-102615600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:102615400-102616200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:102615600-102616200	Enhancers	HSMM	muscle
13	chr3:102615800-102616400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:102615800-102616400	Enhancers	Ovary	ovary
15	chr3:102623000-102623800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:102628600-102629200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:102628800-102629200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:102629000-102629400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:102629200-102629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr3:102629400-102629800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:102629600-102630000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr3:102629800-102631400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:102644000-102644400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr3:102645000-102645400	Weak transcription	H1 Cell Line	embryonic stem cell

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