Variant report

Variant	nsv460535
Chromosome Location	chr3:51395571-51416108
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000179837	chromatin interactions
ENSG00000145050	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1542574	chr3:51395571-51395572	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531927778	chr3:51395655-51395656	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs545144677	chr3:51395708-51395709	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs139976675	chr3:51395744-51395745	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs142035897	chr3:51395791-51395792	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs532613659	chr3:51395812-51395813	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs547474608	chr3:51395826-51395827	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs150724378	chr3:51395857-51395858	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530054453	chr3:51395904-51395905	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548311375	chr3:51395933-51395934	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139073599	chr3:51395959-51395960	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186264860	chr3:51395961-51395962	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530042734	chr3:51396055-51396056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191506161	chr3:51396104-51396105	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372982255	chr3:51396145-51396146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570652091	chr3:51396151-51396152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534822599	chr3:51396158-51396159	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553056972	chr3:51396414-51396415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574469920	chr3:51396429-51396430	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541773971	chr3:51396525-51396526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs183292167	chr3:51396554-51396555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149901092	chr3:51396563-51396564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543702491	chr3:51396593-51396594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376487872	chr3:51396631-51396632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73837435	chr3:51396640-51396641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542971437	chr3:51396658-51396659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73837436	chr3:51396665-51396666	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200021682	chr3:51396673-51396674	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529229512	chr3:51396707-51396708	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558500038	chr3:51396733-51396734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111796317	chr3:51396744-51396745	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530123739	chr3:51396767-51396768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73837437	chr3:51396782-51396783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537585072	chr3:51396816-51396817	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530969459	chr3:51396830-51396831	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552461321	chr3:51396853-51396854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147596375	chr3:51396921-51396922	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141747968	chr3:51396929-51396930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533156337	chr3:51396948-51396949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs552908950	chr3:51396971-51396972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568279059	chr3:51396982-51396983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs35966023	chr3:51397007-51397008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs535178699	chr3:51397011-51397012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557065849	chr3:51397020-51397021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs575121663	chr3:51397035-51397036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545401625	chr3:51397072-51397073	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78873418	chr3:51397123-51397124	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577139121	chr3:51397168-51397169	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535494306	chr3:51397169-51397170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs145598500	chr3:51397195-51397196	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	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:194 , 50 per page) page: 1 2 3 4

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	chr3:51379000-51414600	Weak transcription	Left Ventricle	heart
5	chr3:51379200-51399800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:51379400-51403400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:51380000-51398400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:51380000-51398400	Weak transcription	Aorta	Aorta
9	chr3:51384200-51420600	Weak transcription	Fetal Brain Male	brain
10	chr3:51385400-51405600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:51386400-51405400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:51388400-51400800	Strong transcription	Brain Angular Gyrus	brain
13	chr3:51390200-51400400	Strong transcription	Fetal Brain Female	brain
14	chr3:51391000-51396600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:51391600-51406800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:51391800-51396600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr3:51391800-51400400	Strong transcription	Brain Germinal Matrix	brain
18	chr3:51392000-51400600	Strong transcription	Brain Anterior Caudate	brain
19	chr3:51392600-51395800	Strong transcription	Brain Substantia Nigra	brain
20	chr3:51392800-51395800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:51392800-51400800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:51392800-51418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:51393000-51396400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:51393000-51400800	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr3:51393200-51405600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:51393600-51401000	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr3:51393800-51398600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:51393800-51400800	Strong transcription	Brain Hippocampus Middle	brain
29	chr3:51394000-51405400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:51394400-51400800	Strong transcription	Brain Cingulate Gyrus	brain
31	chr3:51394400-51400800	Strong transcription	HSMMtube	muscle
32	chr3:51394600-51405400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:51395000-51399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:51395200-51398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:51395400-51395800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:51395400-51396000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:51395400-51396000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:51395400-51397000	Weak transcription	Gastric	stomach
39	chr3:51395400-51400400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr3:51395800-51396000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:51395800-51396600	Weak transcription	Brain Substantia Nigra	brain
42	chr3:51395800-51397200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:51395800-51397600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:51396000-51400200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:51396400-51397200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:51396600-51398000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:51396600-51400800	Strong transcription	Brain Substantia Nigra	brain
48	chr3:51397000-51397200	Enhancers	Gastric	stomach
49	chr3:51397200-51397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:51397200-51399200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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