Variant report

Variant	nsv877215
Chromosome Location	chr3:98804408-98884699
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:98822685..98824986-chr3:98826352..98828099,2	K562	blood:
2	chr3:98833207..98833983-chr3:99472028..99472879,3	MCF-7	breast:
3	chr3:98833374..98834517-chr3:99507971..99508723,4	MCF-7	breast:
4	chr3:98833031..98833794-chr3:98891585..98892473,5	MCF-7	breast:
5	chr3:98819273..98821037-chr3:98825327..98828696,3	K562	blood:
6	chr3:98822685..98824986-chr3:98826352..98828099,2	K562	blood:
7	chr3:98833143..98834039-chr3:99250824..99251730,3	MCF-7	breast:
8	chr3:98742229..98743324-chr3:98833134..98833747,3	MCF-7	breast:
9	chr3:98839672..98842383-chr3:98845089..98846835,2	K562	blood:
10	chr3:98819273..98821037-chr3:98825327..98828696,3	K562	blood:
11	chr3:98839672..98842383-chr3:98845089..98846835,2	K562	blood:

No data

Extended variants
information (count: 3422 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:3422 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12493380	chr3:98804408-98804409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529803773	chr3:98804443-98804444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73857897	chr3:98804457-98804458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544123366	chr3:98804502-98804503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560815527	chr3:98804558-98804559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116483500	chr3:98804605-98804606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546727233	chr3:98804633-98804634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148289111	chr3:98804637-98804638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183314730	chr3:98804639-98804640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199573153	chr3:98804659-98804660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551962848	chr3:98804668-98804669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568891116	chr3:98804692-98804693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537805426	chr3:98804717-98804718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557693793	chr3:98804725-98804726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9869926	chr3:98804762-98804763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548485540	chr3:98804891-98804892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189112043	chr3:98804909-98804910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76050974	chr3:98804911-98804912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12497028	chr3:98804922-98804923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191910897	chr3:98804958-98804959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368603335	chr3:98805039-98805040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182958820	chr3:98805048-98805049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575253993	chr3:98805080-98805081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544160413	chr3:98805081-98805082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372370602	chr3:98805109-98805110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529983714	chr3:98805110-98805111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540141157	chr3:98805123-98805124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2140281	chr3:98805198-98805199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs532178584	chr3:98805229-98805230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186632195	chr3:98805230-98805231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528447073	chr3:98805235-98805236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531333369	chr3:98805236-98805237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548251703	chr3:98805245-98805246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568056246	chr3:98805274-98805275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191839354	chr3:98805289-98805290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72930776	chr3:98805297-98805298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2140280	chr3:98805315-98805316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17768667	chr3:98805361-98805362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184016194	chr3:98805407-98805408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2140279	chr3:98805431-98805432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2140278	chr3:98805482-98805483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs72930779	chr3:98805508-98805509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142898917	chr3:98805520-98805521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147424277	chr3:98805538-98805539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560152914	chr3:98805542-98805543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111999009	chr3:98805606-98805607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142894565	chr3:98805607-98805608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200095378	chr3:98805612-98805613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545630958	chr3:98805616-98805617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368424233	chr3:98805620-98805621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98804400-98806200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:98804400-98812800	Weak transcription	Osteobl	bone
3	chr3:98806200-98806400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:98812800-98813000	Enhancers	Osteobl	bone
5	chr3:98813000-98813400	Flanking Active TSS	Osteobl	bone
6	chr3:98813000-98814000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:98813200-98813400	Active TSS	Aorta	Aorta
8	chr3:98813200-98813600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:98813400-98813600	Active TSS	Osteobl	bone
10	chr3:98813400-98813800	Flanking Active TSS	Aorta	Aorta
11	chr3:98813800-98814000	Enhancers	Aorta	Aorta
12	chr3:98815000-98817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:98817400-98818000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:98818000-98828600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:98822400-98827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:98823400-98826600	Weak transcription	NHDF-Ad	bronchial
17	chr3:98826400-98827800	Enhancers	NHLF	lung
18	chr3:98826400-98828200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:98826600-98827600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:98826600-98828000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:98826600-98828000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:98826600-98828000	Enhancers	HMEC	breast
23	chr3:98826600-98828200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:98826600-98828400	Enhancers	NHDF-Ad	bronchial
25	chr3:98826800-98827000	Enhancers	HSMMtube	muscle
26	chr3:98826800-98827200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:98826800-98828000	Enhancers	NHEK	skin
28	chr3:98826800-98828800	Enhancers	HUVEC	blood vessel
29	chr3:98827000-98827800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:98827000-98828000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:98827000-98828000	Enhancers	HSMM	muscle
32	chr3:98827000-98828000	Enhancers	NH-A	brain
33	chr3:98827000-98828000	Enhancers	Osteobl	bone
34	chr3:98827200-98827800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:98827200-98828000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:98827400-98828000	Enhancers	Adipose Nuclei	Adipose
37	chr3:98827600-98827800	Enhancers	HSMMtube	muscle
38	chr3:98827600-98836600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:98827800-98830000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:98828000-98829600	Weak transcription	HMEC	breast
41	chr3:98828000-98830000	Weak transcription	Osteobl	bone
42	chr3:98828000-98830200	Weak transcription	NHEK	skin
43	chr3:98828000-98830400	Weak transcription	HSMM	muscle
44	chr3:98828000-98837800	Weak transcription	NH-A	brain
45	chr3:98828000-98838000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:98828200-98829600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:98828200-98837200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:98828600-98829200	Enhancers	Fetal Brain Male	brain
49	chr3:98829200-98832200	Weak transcription	Fetal Brain Male	brain
50	chr3:98829600-98830600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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