Variant report

Variant	nsv591349
Chromosome Location	chr3:118195601-118229370
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:1)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118191695..118194533-chr3:118197374..118199443,2	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf30-2	chr3:118210387-118210606	XLOC_002775
2	lnc-C3orf30-2	chr3:118207654-118207881	XLOC_002775
3	lnc-C3orf30-2	chr3:118207645-118207872	XLOC_002775
4	lnc-IGSF11-1	chr3:118215470-118215524	ENSG00000243276
5	lnc-C3orf30-2	chr3:118207654-118207872	XLOC_002775
6	lnc-IGSF11-1	chr3:118227258-118227539	ENSG00000243276
7	lnc-C3orf30-2	chr3:118210387-118210569	XLOC_002775
8	lnc-C3orf30-2	chr3:118207645-118207872	XLOC_002775
9	lnc-C3orf30-2	chr3:118207720-118207872	NONHSAT091366
10	lnc-C3orf30-2	chr3:118212387-118212653	XLOC_002775
11	lnc-IGSF11-1	chr3:118227304-118227539	NONHSAT091368
12	lnc-C3orf30-2	chr3:118210387-118210571	NONHSAT091366
13	lnc-IGSF11-1	chr3:118226983-118227539	NONHSAT091367
14	lnc-C3orf30-2	chr3:118212387-118212412	NONHSAT091366
15	lnc-C3orf30-2	chr3:118212387-118212448	XLOC_002775
16	lnc-C3orf30-2	chr3:118210387-118210606	XLOC_002775
17	lnc-C3orf30-2	chr3:118210387-118210569	XLOC_002775
18	lnc-C3orf30-2	chr3:118215386-118215620	XLOC_002775

No data

Variant related genes	Relation type
MRS2	miRNA target sites
MRPL19	miRNA target sites
NFE2L2	miRNA target sites
NOTCH1	miRNA target sites

Extended variants
information (count: 1199 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4688116	chr3:118195601-118195602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543568502	chr3:118195608-118195609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563055302	chr3:118195650-118195651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530280413	chr3:118195669-118195670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560394654	chr3:118195674-118195675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192763274	chr3:118195678-118195679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567115095	chr3:118195752-118195753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75442733	chr3:118195754-118195755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573075392	chr3:118195872-118195873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140822930	chr3:118195905-118195906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184172825	chr3:118195917-118195918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537934232	chr3:118195918-118195919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556205530	chr3:118195927-118195928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568237490	chr3:118195941-118195942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79214257	chr3:118195945-118195946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2946810	chr3:118195951-118195952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572293996	chr3:118195974-118195975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545824862	chr3:118195976-118195977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34289148	chr3:118196006-118196007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550112786	chr3:118196020-118196021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188725168	chr3:118196028-118196029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs145565099	chr3:118196040-118196041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181105551	chr3:118196072-118196073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541684825	chr3:118196171-118196172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1401957	chr3:118196219-118196220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75713399	chr3:118196244-118196245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574757052	chr3:118196253-118196254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370685160	chr3:118196275-118196276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555571352	chr3:118196320-118196321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140273285	chr3:118196335-118196336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531490980	chr3:118196391-118196392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552629291	chr3:118196517-118196518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551793108	chr3:118196533-118196534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571139690	chr3:118196544-118196545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565131078	chr3:118196555-118196556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531569761	chr3:118196597-118196598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370682042	chr3:118196603-118196604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527788263	chr3:118196606-118196607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184158290	chr3:118196613-118196614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199883965	chr3:118196629-118196630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2970125	chr3:118196632-118196633	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568789366	chr3:118196662-118196663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566399973	chr3:118196669-118196670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553928841	chr3:118196681-118196682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565763352	chr3:118196686-118196687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137874893	chr3:118196746-118196747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189237386	chr3:118196747-118196748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368034431	chr3:118196819-118196820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576424294	chr3:118196842-118196843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536417514	chr3:118196846-118196847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:181 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118191800-118196800	Weak transcription	Hela-S3	cervix
2	chr3:118195800-118197400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:118196200-118197200	Enhancers	GM12878-XiMat	blood
4	chr3:118196400-118196600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr3:118196400-118198200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:118196600-118197200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:118196600-118198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:118196800-118198000	Enhancers	Hela-S3	cervix
9	chr3:118196800-118198200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:118197000-118198600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:118197200-118197600	Flanking Active TSS	GM12878-XiMat	blood
12	chr3:118197200-118199400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:118197200-118199600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:118197200-118199600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:118197200-118200800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:118197200-118201200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:118197200-118201200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:118197400-118197600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr3:118197400-118198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:118197400-118198600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:118197600-118198000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:118197600-118199800	Enhancers	GM12878-XiMat	blood
23	chr3:118197800-118198200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:118198000-118198400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:118198200-118198400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr3:118198200-118198400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:118198200-118199000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:118198400-118198600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:118198400-118198800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:118198400-118199000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr3:118198600-118198800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:118198600-118199000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr3:118198800-118199400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:118198800-118200800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr3:118199000-118199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:118199000-118200000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:118199000-118202200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:118199200-118199400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:118199200-118199600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:118199200-118201200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr3:118199400-118199600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:118199400-118199800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:118199600-118202000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr3:118199600-118202000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr3:118199800-118201000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:118200000-118200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:118200200-118200800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr3:118200400-118200600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:118200600-118205200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:118200800-118202000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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