Variant report

Variant	nsv460534
Chromosome Location	chr3:51393046-51416108
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:50899718..50900413-chr3:51408583..51409247,2	K562	blood:
2	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:
3	chr3:51412700..51415238-chr3:51421293..51423152,2	MCF-7	breast:
4	chr3:50653038..50654032-chr3:51409127..51409867,2	K562	blood:
5	chr3:51008779..51009534-chr3:51409019..51409634,2	MCF-7	breast:
6	chr3:51137383..51138350-chr3:51409536..51410333,3	MCF-7	breast:
7	chr3:51404406..51407257-chr3:51420793..51424022,3	MCF-7	breast:
8	chr3:51416005..51420526-chr3:51420969..51426466,5	MCF-7	breast:
9	chr3:51392857..51395304-chr3:51397366..51400297,3	MCF-7	breast:
10	chr3:51306865..51307450-chr3:51409155..51410064,2	MCF-7	breast:
11	chr3:51406871..51409726-chr3:51410883..51412893,2	K562	blood:
12	chr3:51396073..51397760-chr3:51426221..51429098,2	MCF-7	breast:
13	chr3:51008103..51009082-chr3:51409134..51409784,2	K562	blood:
14	chr3:51137392..51138131-chr3:51409021..51409632,2	K562	blood:
15	chr3:51392857..51395304-chr3:51397366..51400297,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145050	chromatin interactions
ENSG00000179837	chromatin interactions

Extended variants
information (count: 722 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4974096	chr3:51393046-51393047	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531432285	chr3:51393161-51393162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187054850	chr3:51393190-51393191	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189193640	chr3:51393277-51393278	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532101726	chr3:51393339-51393340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1480366	chr3:51393374-51393375	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs2306431	chr3:51393457-51393458	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs368770122	chr3:51393478-51393479	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372173933	chr3:51393525-51393526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200661080	chr3:51393532-51393533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375221528	chr3:51393542-51393543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369591444	chr3:51393543-51393544	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373055520	chr3:51393557-51393558	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376171553	chr3:51393584-51393585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144750542	chr3:51393595-51393596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567846490	chr3:51393606-51393607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377384726	chr3:51393609-51393610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138089473	chr3:51393705-51393706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111787646	chr3:51393706-51393707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67893786	chr3:51393707-51393708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371382591	chr3:51393733-51393734	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550207625	chr3:51393786-51393787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201122099	chr3:51393814-51393815	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs538619890	chr3:51393819-51393820	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553765413	chr3:51393820-51393821	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537012859	chr3:51393841-51393842	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs200053589	chr3:51393855-51393856	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566734913	chr3:51393867-51393868	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs374385144	chr3:51393896-51393897	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377699597	chr3:51393931-51393932	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371230907	chr3:51393937-51393938	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374141491	chr3:51393948-51393949	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs368160566	chr3:51393976-51393977	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs34534197	chr3:51394068-51394069	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543258086	chr3:51394118-51394119	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181906482	chr3:51394134-51394135	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs184896151	chr3:51394157-51394158	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541165572	chr3:51394166-51394167	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs559370893	chr3:51394173-51394174	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs529703647	chr3:51394218-51394219	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2306430	chr3:51394259-51394260	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561433913	chr3:51394321-51394322	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201403266	chr3:51394326-51394327	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370473604	chr3:51394351-51394352	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs189674717	chr3:51394357-51394358	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140257152	chr3:51394373-51394374	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367627913	chr3:51394401-51394402	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371350142	chr3:51394431-51394432	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550128680	chr3:51394449-51394450	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs371222465	chr3:51394464-51394465	Weak transcription Strong transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Septo-optic dysplasia	21572526	CNVD
Squamous cell cancer	20885788	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51378000-51399800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:51378600-51421000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:51378800-51421400	Weak transcription	Right Ventricle	heart
4	chr3:51379000-51393800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:51379000-51414600	Weak transcription	Left Ventricle	heart
6	chr3:51379200-51393600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:51379200-51393800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:51379200-51399800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr3:51379400-51403400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:51380000-51398400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:51380000-51398400	Weak transcription	Aorta	Aorta
12	chr3:51384200-51393800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:51384200-51420600	Weak transcription	Fetal Brain Male	brain
14	chr3:51385400-51405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:51386400-51405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:51388000-51393600	Weak transcription	Fetal Stomach	stomach
17	chr3:51388400-51400800	Strong transcription	Brain Angular Gyrus	brain
18	chr3:51390200-51400400	Strong transcription	Fetal Brain Female	brain
19	chr3:51390400-51394400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:51391000-51396600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr3:51391400-51393800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:51391600-51406800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:51391800-51393400	Weak transcription	Spleen	Spleen
24	chr3:51391800-51396600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr3:51391800-51400400	Strong transcription	Brain Germinal Matrix	brain
26	chr3:51392000-51400600	Strong transcription	Brain Anterior Caudate	brain
27	chr3:51392200-51395000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:51392200-51395000	Enhancers	Esophagus	oesophagus
29	chr3:51392400-51393600	Enhancers	Gastric	stomach
30	chr3:51392400-51394000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:51392600-51393400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:51392600-51394400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:51392600-51395200	Enhancers	Stomach Mucosa	stomach
34	chr3:51392600-51395800	Strong transcription	Brain Substantia Nigra	brain
35	chr3:51392800-51395800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:51392800-51400800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:51392800-51418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:51393000-51394400	Weak transcription	HSMMtube	muscle
39	chr3:51393000-51394600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:51393000-51396400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:51393000-51400800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr3:51393200-51393800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:51393200-51394000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr3:51393200-51394000	Enhancers	HMEC	breast
45	chr3:51393200-51405600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr3:51393400-51393800	Enhancers	Spleen	Spleen
47	chr3:51393400-51394000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:51393400-51394000	Enhancers	NHEK	skin
49	chr3:51393600-51394400	Weak transcription	Gastric	stomach
50	chr3:51393600-51401000	Strong transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links