Variant report

Variant	nsv833969
Chromosome Location	chr2:48220927-48328328
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:33)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48271425..48273401-chr2:48307114..48309251,2	K562	blood:
2	chr2:48265433..48267519-chr2:48268652..48271035,2	MCF-7	breast:
3	chr2:48230997..48232724-chr2:48234994..48237663,2	K562	blood:
4	chr2:48265433..48267519-chr2:48268652..48271035,2	MCF-7	breast:
5	chr2:48316739..48318710-chr2:48318863..48321374,2	MCF-7	breast:
6	chr2:48131169..48134758-chr2:48242072..48246540,4	MCF-7	breast:
7	chr2:48321334..48324491-chr2:48327940..48330125,3	K562	blood:
8	chr2:48265412..48266929-chr2:48269070..48270571,2	K562	blood:
9	chr2:48256933..48259629-chr2:48260142..48262123,2	MCF-7	breast:
10	chr2:48317441..48320203-chr2:48322015..48324796,3	K562	blood:
11	chr2:48265412..48266929-chr2:48269070..48270571,2	K562	blood:
12	chr2:48271425..48273401-chr2:48307114..48309251,2	K562	blood:
13	chr2:48245288..48248000-chr2:48252875..48255116,2	K562	blood:
14	chr2:48307387..48309931-chr2:48311952..48314216,3	K562	blood:
15	chr2:48287310..48291198-chr2:48291510..48295161,4	K562	blood:
16	chr2:48245288..48248000-chr2:48252875..48255116,2	K562	blood:
17	chr2:48316739..48318710-chr2:48318863..48321374,2	MCF-7	breast:
18	chr2:48304303..48309230-chr2:48331532..48334851,4	K562	blood:
19	chr2:48287310..48291198-chr2:48291510..48295161,4	K562	blood:
20	chr2:48132451..48134760-chr2:48238687..48240434,2	K562	blood:
21	chr2:48296844..48298630-chr2:48300277..48302097,2	K562	blood:
22	chr2:48296844..48298630-chr2:48300277..48302097,2	K562	blood:
23	chr2:48321334..48324491-chr2:48327940..48330125,3	K562	blood:
24	chr2:48230997..48232724-chr2:48234994..48237663,2	K562	blood:
25	chr2:48131798..48134128-chr2:48231199..48233673,2	K562	blood:
26	chr2:48307387..48309931-chr2:48311952..48314216,3	K562	blood:
27	chr2:48134773..48137566-chr2:48254609..48256804,2	K562	blood:
28	chr2:48317441..48320203-chr2:48322015..48324796,3	K562	blood:
29	chr2:47401039..47403482-chr2:48289903..48292593,2	K562	blood:
30	chr2:48303916..48305585-chr2:48306574..48309495,3	K562	blood:
31	chr2:48256933..48259629-chr2:48260142..48262123,2	MCF-7	breast:
32	chr2:48303916..48305585-chr2:48306574..48309495,3	K562	blood:
33	chr2:48132050..48134807-chr2:48295539..48297966,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MSH6-6	chr2:48231685-48231778	l_1832_chr2:48211368-48231778_testes
2	lnc-FBXO11-1	chr2:48249476-48249542	ENSG00000230773.2
3	lnc-FOXN2-6	chr2:48317246-48317508	NONHSAT070612
4	lnc-FBXO11-5	chr2:48293196-48293527	NONHSAT070613
5	lnc-FBXO11-1	chr2:48223855-48223929	NONHSAT070610
6	lnc-FBXO11-1	chr2:48231961-48232089	ENSG00000230773.2
7	lnc-FBXO11-6	chr2:48245531-48245577	NONHSAT070598
8	lnc-FBXO11-1	chr2:48222286-48222570	ENSG00000230773.2
9	lnc-FOXN2-6	chr2:48274643-48274903	NONHSAT070612
10	lnc-FBXO11-1	chr2:48230439-48230564	ENSG00000230773.2
11	lnc-FBXO11-1	chr2:48230439-48230564	ENSG00000230773
12	lnc-FBXO11-6	chr2:48321571-48321626	NONHSAT070598
13	lnc-FBXO11-1	chr2:48223855-48223929	ENSG00000230773.2
14	lnc-FBXO11-1	chr2:48246499-48246569	ENSG00000230773.2
15	lnc-FBXO11-6	chr2:48260965-48261101	NONHSAT070598
16	lnc-FBXO11-1	chr2:48230439-48230564	NONHSAT070610
17	lnc-FBXO11-1	chr2:48223855-48223929	ENSG00000230773

No data

Variant related genes	Relation type
ENSG00000233230	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000143933	chromatin interactions

Extended variants
information (count: 2601 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2601 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577578863	chr2:48222302-48222303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547177895	chr2:48222355-48222356	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs545042496	chr2:48222365-48222366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs147949242	chr2:48222389-48222390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs34873139	chr2:48222392-48222393	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs116760852	chr2:48222456-48222457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs11125157	chr2:48222472-48222473	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201716650	chr2:48222476-48222477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs199930489	chr2:48222477-48222478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs373190325	chr2:48222497-48222498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs561174080	chr2:48222522-48222523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs181825801	chr2:48222556-48222557	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142533831	chr2:48223858-48223859	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs565520407	chr2:48223902-48223903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs545621569	chr2:48223903-48223904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs72811559	chr2:48223909-48223910	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs193081444	chr2:48223917-48223918	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs541669013	chr2:48228409-48228410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539251373	chr2:48228411-48228412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35153174	chr2:48228422-48228423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563539127	chr2:48228436-48228437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558033327	chr2:48228449-48228450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573154967	chr2:48228450-48228451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540566207	chr2:48228456-48228457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555365608	chr2:48228470-48228471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573575742	chr2:48228498-48228499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544246953	chr2:48228521-48228522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75205508	chr2:48228537-48228538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577708331	chr2:48228550-48228551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140917465	chr2:48228581-48228582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560341161	chr2:48228584-48228585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527946518	chr2:48228612-48228613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531123072	chr2:48228641-48228642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552278557	chr2:48228647-48228648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560901960	chr2:48228655-48228656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531618343	chr2:48228667-48228668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192314365	chr2:48228782-48228783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183354735	chr2:48228786-48228787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6720004	chr2:48228789-48228790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530264147	chr2:48230470-48230471	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs564194379	chr2:48230476-48230477	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs150043421	chr2:48230543-48230544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs553047627	chr2:48231205-48231206	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369300859	chr2:48231229-48231230	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531543530	chr2:48231246-48231247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574521461	chr2:48231268-48231269	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549752069	chr2:48231293-48231294	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571516958	chr2:48231296-48231297	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532303444	chr2:48231300-48231301	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535467144	chr2:48231305-48231306	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48228400-48228800	Enhancers	Liver	Liver
2	chr2:48242800-48243000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:48242800-48243000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:48243600-48243800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:48243600-48243800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:48243800-48245400	Enhancers	Placenta	Placenta
7	chr2:48244600-48245000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:48244600-48245000	Enhancers	Hela-S3	cervix
9	chr2:48246400-48247000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:48252400-48252600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:48253600-48253800	Enhancers	Fetal Muscle Leg	muscle
12	chr2:48254000-48254600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:48257200-48257800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:48258000-48259000	Enhancers	Adipose Nuclei	Adipose
15	chr2:48266400-48269000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:48266600-48267800	Enhancers	Placenta	Placenta
17	chr2:48266800-48267600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:48267600-48270400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:48267800-48270200	Weak transcription	Placenta	Placenta
20	chr2:48269600-48270800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:48270000-48270200	Enhancers	Primary B cells from cord blood	blood
22	chr2:48270200-48271400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:48270200-48272200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:48270200-48272800	Enhancers	Placenta	Placenta
25	chr2:48270400-48271200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:48270400-48271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:48270800-48275600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:48271000-48271800	Active TSS	K562	blood
29	chr2:48271200-48274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:48271400-48272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:48271800-48274400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:48272200-48272400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:48272200-48273800	Enhancers	Primary B cells from cord blood	blood
34	chr2:48272200-48274200	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:48272600-48273200	Enhancers	GM12878-XiMat	blood
36	chr2:48272600-48273800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:48272600-48274600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:48272800-48274200	Weak transcription	Placenta	Placenta
39	chr2:48273800-48275600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:48274000-48274200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:48274000-48274200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:48274000-48274800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:48274200-48274400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:48274200-48274400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:48274200-48274400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr2:48274200-48274400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:48274200-48274400	Active TSS	Adipose Nuclei	Adipose
48	chr2:48274200-48274800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:48274200-48274800	Enhancers	Placenta	Placenta
50	chr2:48274200-48275800	Weak transcription	Primary B cells from peripheral blood	blood

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