Variant report

Variant	nsv877624
Chromosome Location	chr3:146414837-146536741
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	chr3:146535264..146535780-chr3:146909367..146910281,2	MCF-7	breast:
2	chr3:146535184..146535986-chr3:147334472..147335106,2	MCF-7	breast:
3	chr3:146535974..146536861-chr3:146909343..146910183,2	MCF-7	breast:
4	chr3:146453782..146456764-chr3:146457731..146459904,2	K562	blood:
5	chr3:146534888..146535944-chr3:147793502..147794515,3	MCF-7	breast:
6	chr3:146453782..146456764-chr3:146457731..146459904,2	K562	blood:
7	chr3:146535595..146536102-chr3:147133508..147134222,2	MCF-7	breast:
8	chr3:146477908..146479521-chr3:146482688..146484661,2	K562	blood:
9	chr3:146523515..146525331-chr3:147109923..147112497,2	MCF-7	breast:
10	chr3:146465618..146466350-chr3:146909313..146909963,2	MCF-7	breast:
11	chr3:146477908..146479521-chr3:146482688..146484661,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174963	chromatin interactions
ENSG00000152977	chromatin interactions

Extended variants
information (count: 3231 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3231 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9835908	chr3:146414837-146414838	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117240158	chr3:146414868-146414869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111811945	chr3:146414875-146414876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112658447	chr3:146414879-146414880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539169207	chr3:146414881-146414882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557701283	chr3:146414891-146414892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542735301	chr3:146414922-146414923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184354485	chr3:146414923-146414924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188786552	chr3:146414936-146414937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181812714	chr3:146414951-146414952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76261152	chr3:146415094-146415095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565145947	chr3:146415101-146415102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184964395	chr3:146415119-146415120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376148148	chr3:146415128-146415129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75571062	chr3:146415134-146415135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567542210	chr3:146415151-146415152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530067605	chr3:146415198-146415199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546664230	chr3:146415199-146415200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189760872	chr3:146415227-146415228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372244645	chr3:146415282-146415283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181017066	chr3:146415313-146415314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538816130	chr3:146415395-146415396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370070727	chr3:146415432-146415433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372784462	chr3:146415445-146415446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200894980	chr3:146415447-146415448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3048238	chr3:146415448-146415449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202066331	chr3:146415449-146415450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376491557	chr3:146415453-146415454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543799991	chr3:146415455-146415456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3048239	chr3:146415468-146415469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183941391	chr3:146415469-146415470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538155574	chr3:146415523-146415524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185174857	chr3:146415529-146415530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73160903	chr3:146415589-146415590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs80198289	chr3:146415601-146415602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73865809	chr3:146415605-146415606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572982373	chr3:146415633-146415634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78182484	chr3:146415640-146415641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564928800	chr3:146415654-146415655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530773208	chr3:146415663-146415664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373058592	chr3:146415702-146415703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114227629	chr3:146415736-146415737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9851037	chr3:146415737-146415738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73865810	chr3:146415752-146415753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs566587730	chr3:146415756-146415757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73160904	chr3:146415767-146415768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552689297	chr3:146415808-146415809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6796901	chr3:146415855-146415856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538468039	chr3:146415857-146415858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554943249	chr3:146415871-146415872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146409600-146422000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:146414800-146415200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:146415200-146422800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:146420200-146432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:146422800-146423200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:146422800-146424000	Enhancers	GM12878-XiMat	blood
7	chr3:146422800-146425600	Enhancers	Dnd41	blood
8	chr3:146423200-146424600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:146424600-146425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:146425000-146427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:146425600-146426600	Weak transcription	Dnd41	blood
12	chr3:146425800-146426000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr3:146426000-146427200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:146426600-146427600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:146426600-146427600	Enhancers	Dnd41	blood
16	chr3:146427000-146427600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:146427200-146427800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:146427200-146427800	Enhancers	HSMM	muscle
19	chr3:146427200-146428000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:146427200-146428600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:146427400-146427600	Enhancers	NHDF-Ad	bronchial
22	chr3:146427600-146430000	Weak transcription	NHDF-Ad	bronchial
23	chr3:146427800-146432800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:146428600-146430000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:146430000-146431000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:146430000-146431400	Enhancers	NHDF-Ad	bronchial
27	chr3:146430600-146431000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:146431400-146432600	Weak transcription	NHDF-Ad	bronchial
29	chr3:146432400-146433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:146432600-146433000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:146432600-146433000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:146432600-146433200	Enhancers	NHDF-Ad	bronchial
33	chr3:146432600-146433400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:146432600-146433600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:146432800-146433200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:146449600-146450000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:146449600-146450200	Enhancers	HMEC	breast
38	chr3:146449800-146450400	Enhancers	NHEK	skin
39	chr3:146454200-146458200	Enhancers	Dnd41	blood
40	chr3:146458200-146459200	ZNF genes & repeats	Dnd41	blood
41	chr3:146461600-146462600	ZNF genes & repeats	Dnd41	blood
42	chr3:146462000-146462200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:146462200-146462400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:146462200-146462400	Enhancers	HMEC	breast
45	chr3:146462400-146463400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr3:146462400-146463400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:146462600-146464000	Weak transcription	Dnd41	blood
48	chr3:146462600-146464000	Weak transcription	HMEC	breast
49	chr3:146463400-146463600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:146463400-146463800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links