Variant report

Variant	nsv947144
Chromosome Location	chr1:193921642-193969239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193928408..193930045-chr1:193932568..193934210,2	K562	blood:
2	chr1:193937203..193939818-chr1:193949717..193951267,2	K562	blood:
3	chr1:193937203..193939818-chr1:193949717..193951267,2	K562	blood:
4	chr1:193928408..193930045-chr1:193932568..193934210,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GALT2-4	chr1:193931035-193931268	NONHSAT008578

Extended variants
information (count: 1045 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542931093	chr1:193921687-193921688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112346383	chr1:193921690-193921691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372474492	chr1:193921735-193921736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139907698	chr1:193921763-193921764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572950321	chr1:193921780-193921781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193224624	chr1:193921853-193921854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184622831	chr1:193921855-193921856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560095983	chr1:193921862-193921863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564839798	chr1:193921870-193921871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189457806	chr1:193921909-193921910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78032705	chr1:193921970-193921971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560513202	chr1:193921971-193921972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192060609	chr1:193921979-193921980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184503896	chr1:193922073-193922074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189673425	chr1:193922076-193922077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376596362	chr1:193922150-193922151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12563841	chr1:193922183-193922184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551908211	chr1:193922184-193922185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116792217	chr1:193922216-193922217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537520630	chr1:193922252-193922253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs602998	chr1:193922253-193922254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567645763	chr1:193922255-193922256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12116977	chr1:193922330-193922331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553294142	chr1:193922348-193922349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573052803	chr1:193922378-193922379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372575095	chr1:193922401-193922402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185957117	chr1:193922418-193922419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558691876	chr1:193922431-193922432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575257312	chr1:193922443-193922444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34706587	chr1:193922468-193922469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543886617	chr1:193922495-193922496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560576792	chr1:193922602-193922603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574091948	chr1:193922605-193922606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189267382	chr1:193922607-193922608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375613810	chr1:193922650-193922651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371048027	chr1:193922655-193922656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202117460	chr1:193922716-193922717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77512895	chr1:193922718-193922719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541656553	chr1:193922719-193922720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397982447	chr1:193922735-193922736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12117096	chr1:193922738-193922739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528734267	chr1:193922785-193922786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547714647	chr1:193922813-193922814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12124779	chr1:193922834-193922835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549981415	chr1:193922893-193922894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114459477	chr1:193922897-193922898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143293400	chr1:193922898-193922899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571342323	chr1:193922911-193922912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551094970	chr1:193922951-193922952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538968825	chr1:193922963-193922964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193921200-193921800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:193921200-193921800	Enhancers	Adipose Nuclei	Adipose
3	chr1:193921200-193921800	Enhancers	Liver	Liver
4	chr1:193921200-193921800	Enhancers	Fetal Brain Male	brain
5	chr1:193921200-193921800	Enhancers	Fetal Intestine Large	intestine
6	chr1:193921200-193921800	Enhancers	Fetal Intestine Small	intestine
7	chr1:193921200-193921800	Enhancers	Left Ventricle	heart
8	chr1:193921200-193921800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:193921200-193921800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:193921200-193922400	Enhancers	Fetal Heart	heart
11	chr1:193921200-193922400	Enhancers	Fetal Lung	lung
12	chr1:193921800-193926800	Weak transcription	Left Ventricle	heart
13	chr1:193922400-193923400	Weak transcription	Fetal Heart	heart
14	chr1:193923400-193923600	Enhancers	Fetal Heart	heart
15	chr1:193923600-193923800	Weak transcription	Fetal Heart	heart
16	chr1:193925000-193925200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:193925200-193933200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:193926600-193927200	Enhancers	NHEK	skin
19	chr1:193926800-193927000	Enhancers	Left Ventricle	heart
20	chr1:193926800-193927200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:193927000-193927400	Weak transcription	Left Ventricle	heart
22	chr1:193929000-193930800	Enhancers	Fetal Heart	heart
23	chr1:193929400-193930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:193929600-193930200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:193930800-193940600	Weak transcription	Fetal Heart	heart
26	chr1:193933200-193934000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:193933400-193933800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:193933600-193934000	Enhancers	Primary T cells from cord blood	blood
29	chr1:193938800-193941600	Enhancers	Hela-S3	cervix
30	chr1:193939800-193941600	Enhancers	NH-A	brain
31	chr1:193940600-193941000	Enhancers	Fetal Heart	heart
32	chr1:193940600-193941400	Enhancers	NHEK	skin
33	chr1:193940600-193942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:193948200-193948600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:193950400-193952400	Active TSS	Fetal Muscle Leg	muscle
36	chr1:193956800-193957600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
37	chr1:193959400-193959600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr1:193968400-193969400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:193968400-193969600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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