Variant report

Variant	nsv10267
Chromosome Location	chr3:46423130-46440713
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46435342..46437357-chr3:46438783..46441176,2	K562	blood:
2	chr3:46433060..46435170-chr3:46436766..46439385,2	K562	blood:
3	chr3:46428873..46431436-chr3:46435878..46437838,2	K562	blood:
4	chr3:46435342..46437357-chr3:46438783..46441176,2	K562	blood:
5	chr3:46428873..46431704-chr3:46436211..46437838,2	K562	blood:
6	chr3:46427138..46428924-chr3:46441384..46443422,2	K562	blood:
7	chr3:46434903..46437048-chr3:46441452..46445081,4	K562	blood:
8	chr3:46436027..46436544-chr3:46483822..46484338,2	MCF-7	breast:
9	chr3:46436463..46438554-chr3:46441253..46442786,2	K562	blood:
10	chr3:46433060..46435170-chr3:46436766..46439385,2	K562	blood:
11	chr3:46130909..46132770-chr3:46427115..46429449,2	K562	blood:
12	chr3:46428487..46432121-chr3:46469362..46472728,3	MCF-7	breast:
13	chr3:46428873..46431704-chr3:46436211..46437838,2	K562	blood:
14	chr3:46435557..46438302-chr3:46445017..46447658,3	MCF-7	breast:
15	chr3:46428873..46431436-chr3:46435878..46437838,2	K562	blood:
16	chr3:46414355..46417313-chr3:46422093..46423831,2	K562	blood:
17	chr3:46436362..46436961-chr3:46468661..46469389,2	MCF-7	breast:
18	chr3:46436690..46437276-chr3:46483787..46484399,2	MCF-7	breast:
19	chr3:46420928..46423796-chr3:46462092..46464094,2	K562	blood:
20	chr3:46436315..46436954-chr3:46671328..46672082,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTF-1	chr3:46434316-46434543	ENSG00000223552.1

No data

Extended variants
information (count: 724 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:724 , 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	rs541774916	chr3:46423158-46423159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577031640	chr3:46423204-46423205	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs534926752	chr3:46423261-46423262	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs17141076	chr3:46423269-46423270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369277674	chr3:46423292-46423293	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs149684347	chr3:46423366-46423367	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs367656522	chr3:46423441-46423442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146701630	chr3:46423461-46423462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575017301	chr3:46423476-46423477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546043928	chr3:46423488-46423489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572075530	chr3:46423586-46423587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545862516	chr3:46423588-46423589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564710652	chr3:46423589-46423590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564060304	chr3:46423611-46423612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531467842	chr3:46423614-46423615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35516519	chr3:46423666-46423667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143994695	chr3:46423681-46423682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562410880	chr3:46423690-46423691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529292331	chr3:46423691-46423692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146514783	chr3:46423755-46423756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149118922	chr3:46423838-46423839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572113965	chr3:46423839-46423840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143122982	chr3:46423879-46423880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570629292	chr3:46423888-46423889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs151186416	chr3:46423907-46423908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62246129	chr3:46423928-46423929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146466334	chr3:46423960-46423961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs916091	chr3:46424007-46424008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556552529	chr3:46424049-46424050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139148113	chr3:46424061-46424062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545883791	chr3:46424212-46424213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551397766	chr3:46424224-46424225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557612752	chr3:46424269-46424270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569695360	chr3:46424357-46424358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142988551	chr3:46424369-46424370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540508432	chr3:46424404-46424405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190173895	chr3:46424438-46424439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529637745	chr3:46424480-46424481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544583589	chr3:46424491-46424492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562880498	chr3:46424502-46424503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533223046	chr3:46424547-46424548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551850245	chr3:46424556-46424557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377113423	chr3:46424557-46424558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17141079	chr3:46424569-46424570	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34455547	chr3:46424610-46424611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546410485	chr3:46424626-46424627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567978644	chr3:46424639-46424640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535368683	chr3:46424654-46424655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149650121	chr3:46424689-46424690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144400782	chr3:46424766-46424767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
2	chr3:46420400-46425400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:46420400-46427600	Weak transcription	Pancreas	Pancrea
4	chr3:46421400-46423400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:46421400-46426000	Enhancers	Fetal Lung	lung
6	chr3:46421600-46424000	Enhancers	Fetal Brain Male	brain
7	chr3:46421800-46425000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:46422000-46423400	Enhancers	Small Intestine	intestine
9	chr3:46422000-46423600	Enhancers	Adipose Nuclei	Adipose
10	chr3:46422000-46423800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:46422000-46424000	Enhancers	Ovary	ovary
12	chr3:46422000-46425200	Enhancers	Colonic Mucosa	Colon
13	chr3:46422200-46425400	Enhancers	Stomach Mucosa	stomach
14	chr3:46422200-46435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:46422400-46423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:46422400-46423200	Weak transcription	Fetal Brain Female	brain
17	chr3:46422400-46423200	Weak transcription	Gastric	stomach
18	chr3:46422400-46423200	Weak transcription	Lung	lung
19	chr3:46422400-46423600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:46422400-46423800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:46422400-46423800	Enhancers	NHEK	skin
22	chr3:46422400-46424600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:46422400-46424800	Enhancers	Dnd41	blood
24	chr3:46422400-46425400	Weak transcription	Thymus	Thymus
25	chr3:46422400-46426400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr3:46422400-46427800	Weak transcription	Esophagus	oesophagus
27	chr3:46422400-46438600	Weak transcription	Psoas Muscle	Psoas
28	chr3:46422600-46423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr3:46422600-46423400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:46422600-46423400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:46422600-46424400	Weak transcription	Fetal Intestine Small	intestine
32	chr3:46422600-46424600	Weak transcription	Placenta	Placenta
33	chr3:46422600-46424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:46422600-46425000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:46422600-46425000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr3:46422600-46425000	Weak transcription	Brain Substantia Nigra	brain
37	chr3:46422600-46427600	Weak transcription	Hela-S3	cervix
38	chr3:46422600-46435200	Weak transcription	Right Atrium	heart
39	chr3:46422800-46424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:46422800-46424400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr3:46422800-46424400	Weak transcription	Fetal Thymus	thymus
42	chr3:46422800-46424600	Weak transcription	GM12878-XiMat	blood
43	chr3:46422800-46424800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr3:46422800-46424800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr3:46422800-46424800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:46422800-46424800	Weak transcription	HMEC	breast
47	chr3:46422800-46429400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:46423000-46423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:46423000-46424000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr3:46423000-46424200	Weak transcription	Primary B cells from cord blood	blood

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