Variant report

Variant	nsv963568
Chromosome Location	chr3:109644954-109655353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 424 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:424 , 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	rs575145241	chr3:109645037-109645038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545189000	chr3:109645056-109645057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545668391	chr3:109645094-109645095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527595434	chr3:109645185-109645186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546985194	chr3:109645222-109645223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138097270	chr3:109645305-109645306	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529391153	chr3:109645308-109645309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs372944265	chr3:109645318-109645319	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549537681	chr3:109645347-109645348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142574084	chr3:109645371-109645372	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73217653	chr3:109645372-109645373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188404232	chr3:109645398-109645399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571820234	chr3:109645403-109645404	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144730636	chr3:109645423-109645424	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79059031	chr3:109645440-109645441	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs193047168	chr3:109645473-109645474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs185653357	chr3:109645498-109645499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs190557434	chr3:109645500-109645501	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191426928	chr3:109645507-109645508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs546720633	chr3:109645526-109645527	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142274434	chr3:109645585-109645586	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs67243448	chr3:109645594-109645595	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs183596084	chr3:109645665-109645666	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565108164	chr3:109645677-109645678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572348469	chr3:109645696-109645697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs34264169	chr3:109645730-109645731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138858139	chr3:109645740-109645741	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs560487679	chr3:109645742-109645743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529352387	chr3:109645792-109645793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549408352	chr3:109645794-109645795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570364425	chr3:109645851-109645852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs531854901	chr3:109645915-109645916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551662098	chr3:109645926-109645927	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs571847659	chr3:109645951-109645952	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534214777	chr3:109645984-109645985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112002632	chr3:109645987-109645988	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs188736772	chr3:109646011-109646012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567625280	chr3:109646087-109646088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77489603	chr3:109646091-109646092	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555953098	chr3:109646092-109646093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62283089	chr3:109646104-109646105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs576024813	chr3:109646144-109646145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs181213617	chr3:109646213-109646214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537908605	chr3:109646223-109646224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3915171	chr3:109646225-109646226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs632144	chr3:109646242-109646243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs541328392	chr3:109646281-109646282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371338796	chr3:109646353-109646354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531165379	chr3:109646368-109646369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4384983	chr3:109646426-109646427	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109637400-109645200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:109640800-109646000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:109641000-109645200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:109641600-109646600	Weak transcription	HSMM	muscle
5	chr3:109643000-109645200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:109643000-109646800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:109643200-109645200	Weak transcription	HMEC	breast
8	chr3:109643400-109645400	Enhancers	Placenta	Placenta
9	chr3:109644000-109646800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:109644200-109645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:109644200-109645200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:109644200-109645400	Weak transcription	NHEK	skin
13	chr3:109644200-109645600	Weak transcription	Hela-S3	cervix
14	chr3:109644400-109645200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:109644400-109646200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:109644800-109645200	Enhancers	A549	lung
17	chr3:109645200-109645400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:109645200-109645600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:109645200-109645600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr3:109645200-109646000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:109645200-109646200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:109645200-109646200	Flanking Active TSS	A549	lung
23	chr3:109645200-109647000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:109645200-109647000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:109645200-109647200	Enhancers	NH-A	brain
26	chr3:109645200-109647400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:109645200-109647400	Enhancers	HMEC	breast
28	chr3:109645400-109646600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:109645400-109647000	Enhancers	Osteobl	bone
30	chr3:109645400-109647200	Enhancers	NHEK	skin
31	chr3:109645600-109646600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:109645600-109647000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:109645600-109647000	Enhancers	Hela-S3	cervix
34	chr3:109645600-109647400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr3:109645800-109646200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:109645800-109646800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:109645800-109646800	Enhancers	NHLF	lung
38	chr3:109645800-109647200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:109645800-109647200	Enhancers	NHDF-Ad	bronchial
40	chr3:109646000-109646200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:109646000-109646400	Enhancers	Dnd41	blood
42	chr3:109646000-109646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:109646000-109647000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:109646200-109646400	Enhancers	A549	lung
45	chr3:109646200-109646600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:109646200-109647000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:109646400-109647000	Flanking Active TSS	A549	lung
48	chr3:109646600-109647000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr3:109646600-109647000	Enhancers	HSMM	muscle
50	chr3:109646600-109647200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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