Variant report

Variant	nsv999285
Chromosome Location	chr3:164133483-164326560
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:28)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
2	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:
3	chr3:164097711..164098324-chr3:164241488..164242187,2	MCF-7	breast:
4	chr3:164241669..164242499-chr3:164352238..164352926,2	MCF-7	breast:
5	chr3:164241773..164244042-chr3:164244735..164247521,2	MCF-7	breast:
6	chr3:164172109..164174038-chr3:164174239..164176085,2	MCF-7	breast:
7	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:
8	chr3:164097731..164098551-chr3:164154660..164155422,4	MCF-7	breast:
9	chr3:164321063..164322898-chr3:164324839..164326487,2	K562	blood:
10	chr3:164190398..164192515-chr3:164196627..164199488,2	K562	blood:
11	chr19:15442848..15443641-chr3:164192625..164193437,2	Hela-S3	cervix:
12	chr3:164154966..164155479-chr3:164352397..164353197,2	MCF-7	breast:
13	chr3:164241644..164242499-chr3:164352238..164353178,5	MCF-7	breast:
14	chr3:164256176..164258649-chr3:164263680..164265313,2	MCF-7	breast:
15	chr3:164280228..164281066-chr3:164352373..164353274,2	MCF-7	breast:
16	chr3:164097709..164098424-chr3:164241494..164242452,3	MCF-7	breast:
17	chr3:164321063..164322898-chr3:164324839..164326487,2	K562	blood:
18	chr3:164190398..164192515-chr3:164196627..164199488,2	K562	blood:
19	chr3:164097647..164098715-chr3:164154502..164155534,19	MCF-7	breast:
20	chr3:164256176..164258649-chr3:164263680..164265313,2	MCF-7	breast:
21	chr3:164145149..164147604-chr3:164148897..164151396,2	MCF-7	breast:
22	chr3:164212016..164212593-chr6:120624651..120625343,2	MCF-7	breast:
23	chr3:164155004..164155575-chr3:164352325..164352831,2	MCF-7	breast:
24	chr3:164097647..164098678-chr3:164154502..164155534,10	MCF-7	breast:
25	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
26	chr3:164240704..164243300-chr3:164249655..164252008,2	MCF-7	breast:
27	chr3:164154258..164155585-chr3:164352234..164353310,15	MCF-7	breast:
28	chr3:164097711..164098324-chr3:164241488..164242482,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINI1-9	chr3:164169033-164169323	XLOC_002900
2	lnc-SERPINI1-9	chr3:164169033-164169323	XLOC_002900
3	lnc-OTOL1-4	chr3:164136236-164136391	XLOC_002899
4	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900
5	lnc-OTOL1-4	chr3:164137191-164137295	XLOC_002899
6	lnc-SERPINI1-9	chr3:164280960-164281013	XLOC_002900

No data

Variant related genes	Relation type
ENSG00000141867	chromatin interactions
QKI	miRNA target sites
AKAP12	miRNA target sites

Extended variants
information (count: 1991 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1991 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189191499	chr3:164134216-164134217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147905950	chr3:164134237-164134238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs57692577	chr3:164134238-164134239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200748765	chr3:164134247-164134248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560823014	chr3:164134256-164134257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529288510	chr3:164134369-164134370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549395108	chr3:164134395-164134396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569138406	chr3:164134409-164134410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114545951	chr3:164134454-164134455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6782244	chr3:164134455-164134456	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs571880211	chr3:164134469-164134470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181799153	chr3:164134509-164134510	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs143355918	chr3:164134514-164134515	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115201393	chr3:164134531-164134532	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536529827	chr3:164134584-164134585	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532568703	chr3:164134588-164134589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556150686	chr3:164134619-164134620	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7650970	chr3:164134678-164134679	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545127628	chr3:164134692-164134693	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7651057	chr3:164134719-164134720	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185132123	chr3:164134736-164134737	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7618193	chr3:164134783-164134784	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147109407	chr3:164134784-164134785	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs137932977	chr3:164134873-164134874	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11441520	chr3:164134892-164134893	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35274532	chr3:164134893-164134894	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201696916	chr3:164134946-164134947	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149449143	chr3:164134950-164134951	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562942425	chr3:164134969-164134970	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80319360	chr3:164134990-164134991	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143958935	chr3:164135040-164135041	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190417415	chr3:164135058-164135059	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75969151	chr3:164135073-164135074	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13324218	chr3:164135167-164135168	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548044330	chr3:164135168-164135169	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148626190	chr3:164135176-164135177	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13313898	chr3:164135182-164135183	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572780018	chr3:164135245-164135246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550194325	chr3:164135266-164135267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13059109	chr3:164135299-164135300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73877033	chr3:164135303-164135304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182199370	chr3:164135334-164135335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1435052	chr3:164135397-164135398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141203343	chr3:164135416-164135417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146255349	chr3:164135439-164135440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1435051	chr3:164135451-164135452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574537352	chr3:164135471-164135472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543711377	chr3:164135489-164135490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1435050	chr3:164135492-164135493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576406084	chr3:164135594-164135595	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164134200-164134400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:164134200-164135200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:164134200-164135200	Enhancers	Adipose Nuclei	Adipose
4	chr3:164134400-164134800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:164134400-164135200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:164135200-164136400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:164135800-164136400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:164136200-164136600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:164167800-164168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:164168200-164168400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:164168200-164169200	Enhancers	Liver	Liver
12	chr3:164168200-164170000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:164168400-164168600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:164168400-164169000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:164168600-164169000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:164168600-164169200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:164168800-164169200	Enhancers	Brain Anterior Caudate	brain
18	chr3:164168800-164169200	Enhancers	Colon Smooth Muscle	Colon
19	chr3:164168800-164169200	Enhancers	NHDF-Ad	bronchial
20	chr3:164168800-164169400	Enhancers	Ovary	ovary
21	chr3:164168800-164169800	Active TSS	Right Atrium	heart
22	chr3:164168800-164170200	Active TSS	Stomach Smooth Muscle	stomach
23	chr3:164169000-164169200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:164169000-164169400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:164169000-164169400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:164169000-164169600	Active TSS	Adipose Nuclei	Adipose
27	chr3:164169000-164169800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:164169000-164169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:164169000-164169800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:164169200-164169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:164169200-164176400	Weak transcription	NHDF-Ad	bronchial
32	chr3:164169400-164170000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:164169400-164170000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:164169400-164170000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:164169400-164170400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:164169800-164170200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:164169800-164170200	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr3:164170000-164170200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:164170200-164170400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:164170200-164171200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:164170400-164170800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:164170800-164171200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:164171200-164172600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:164172600-164172800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:164172600-164176400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:164176200-164176600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:164176200-164176800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:164176400-164176600	Enhancers	A549	lung
49	chr3:164176400-164176800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:164176400-164178000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links