Variant report

Variant	nsv872881
Chromosome Location	chr1:194713249-194869500
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:96)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:96 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
2	chr1:194736657..194739277-chr1:194743434..194745468,2	K562	blood:
3	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
4	chr1:194821076..194822718-chr1:194827605..194831721,4	K562	blood:
5	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
6	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
7	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
8	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
9	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
10	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
11	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
12	chr1:194722558..194724150-chr1:194725621..194727394,2	K562	blood:
13	chr1:194624819..194626729-chr1:194711630..194714055,2	K562	blood:
14	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
15	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
16	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
17	chr1:194738666..194741262-chr1:194743918..194745585,2	K562	blood:
18	chr1:194688412..194690986-chr1:194719198..194722063,2	K562	blood:
19	chr1:194736657..194739277-chr1:194743434..194745468,2	K562	blood:
20	chr1:194827832..194830563-chr1:195590853..195593142,2	K562	blood:
21	chr1:194742165..194743890-chr1:194745588..194747378,2	K562	blood:
22	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
23	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
24	chr1:194811883..194813573-chr1:194831877..194834030,2	K562	blood:
25	chr1:194740229..194742934-chr1:194768540..194770092,2	K562	blood:
26	chr1:194819060..194821727-chr1:194842540..194844189,2	K562	blood:
27	chr1:194775652..194778419-chr1:194781583..194783749,2	K562	blood:
28	chr1:194828434..194829987-chr1:194856393..194858664,2	K562	blood:
29	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
30	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
31	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
32	chr1:194750527..194754803-chr1:194755317..194759083,5	K562	blood:
33	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
34	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
35	chr1:194756457..194758169-chr1:194762213..194765024,2	K562	blood:
36	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
37	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
38	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
39	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
40	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
41	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
42	chr1:194729999..194731616-chr1:194739799..194741340,2	K562	blood:
43	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
44	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
45	chr1:194742165..194743890-chr1:194745588..194747378,2	K562	blood:
46	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
47	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
48	chr1:194803086..194804803-chr1:194807093..194810112,3	K562	blood:
49	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
50	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNT2-5	chr1:194748907-194749629	NONHSAT008587
2	lnc-KCNT2-5	chr1:194750316-194750373	NONHSAT008587

No data

Variant related genes	Relation type
ENSG00000023572	chromatin interactions

Extended variants
information (count: 4070 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:4070 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148202728	chr1:194718213-194718214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527557396	chr1:194718232-194718233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141145543	chr1:194718295-194718296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567531896	chr1:194718314-194718315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10921643	chr1:194718327-194718328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73054548	chr1:194718341-194718342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34108734	chr1:194718362-194718363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67395389	chr1:194718363-194718364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397698870	chr1:194718369-194718370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74131608	chr1:194718416-194718417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs367600325	chr1:194718431-194718432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539241686	chr1:194718484-194718485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375979232	chr1:194718489-194718490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144407417	chr1:194718497-194718498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34638110	chr1:194718579-194718580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202132579	chr1:194718605-194718606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146111363	chr1:194718615-194718616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575465648	chr1:194718674-194718675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533745344	chr1:194718680-194718681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555367209	chr1:194718682-194718683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369937169	chr1:194718744-194718745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573297087	chr1:194718751-194718752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140119124	chr1:194718832-194718833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149808162	chr1:194718835-194718836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376731882	chr1:194718841-194718842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145757860	chr1:194718842-194718843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79949208	chr1:194718857-194718858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183827535	chr1:194718860-194718861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188895818	chr1:194718889-194718890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114586139	chr1:194718912-194718913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148942017	chr1:194718946-194718947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567705997	chr1:194718947-194718948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142747467	chr1:194718948-194718949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550154829	chr1:194718986-194718987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147852952	chr1:194718995-194718996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539097450	chr1:194719025-194719026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs386638150	chr1:194719083-194719084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191978123	chr1:194719117-194719118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182940377	chr1:194719119-194719120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536998892	chr1:194719128-194719129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141403617	chr1:194719142-194719143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546169835	chr1:194719153-194719154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187626386	chr1:194719160-194719161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74131609	chr1:194719260-194719261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564366218	chr1:194719262-194719263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372831418	chr1:194719274-194719275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191701126	chr1:194719368-194719369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182838252	chr1:194719370-194719371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34747413	chr1:194719420-194719421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375732468	chr1:194719421-194719422	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
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194718200-194721000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:194724800-194725000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:194725000-194725200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:194725200-194725400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr1:194737800-194738200	Enhancers	Ovary	ovary
6	chr1:194741600-194762200	Weak transcription	K562	blood
7	chr1:194748400-194748800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:194758400-194759400	Enhancers	Ovary	ovary
9	chr1:194762200-194763000	ZNF genes & repeats	K562	blood
10	chr1:194763000-194807600	Weak transcription	K562	blood
11	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
13	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
14	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
17	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
19	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
20	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
23	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
24	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:194807600-194807800	Strong transcription	K562	blood
27	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
28	chr1:194808000-194825600	Weak transcription	K562	blood
29	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
30	chr1:194825600-194831000	Active TSS	K562	blood
31	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
32	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
33	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
34	chr1:194842200-194842800	Enhancers	K562	blood
35	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
42	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
43	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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