Variant report

Variant	nsv872883
Chromosome Location	chr1:194724361-194938243
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:98)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
2	chr1:194738666..194741262-chr1:194743918..194745585,2	K562	blood:
3	chr1:194720032..194722356-chr1:194806450..194808875,2	K562	blood:
4	chr1:194732100..194734092-chr1:194744925..194747815,2	K562	blood:
5	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
6	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
7	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
8	chr1:194804501..194806498-chr1:194816896..194818919,2	K562	blood:
9	chr1:194729999..194731616-chr1:194739799..194741340,2	K562	blood:
10	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
11	chr1:194833686..194836577-chr1:194840293..194843252,2	K562	blood:
12	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
13	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
14	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
15	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
16	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
17	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
18	chr1:194782064..194783617-chr1:194823209..194825644,2	K562	blood:
19	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
20	chr1:194828161..194830598-chr1:194840247..194842578,2	K562	blood:
21	chr1:193074740..193076567-chr1:194827728..194830182,2	K562	blood:
22	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
23	chr1:194808956..194810740-chr1:194810823..194813359,2	K562	blood:
24	chr1:194927782..194929413-chr1:194932247..194935027,2	MCF-7	breast:
25	chr1:194786889..194788566-chr1:194794370..194797168,2	MCF-7	breast:
26	chr1:194810751..194812791-chr1:194825406..194827084,2	K562	blood:
27	chr1:194732100..194734092-chr1:194744925..194747815,2	K562	blood:
28	chr1:194821182..194823850-chr1:194829080..194831721,3	K562	blood:
29	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
30	chr1:194808418..194813553-chr1:194816550..194820694,5	K562	blood:
31	chr1:194758845..194760365-chr13:92006262..92008831,2	K562	blood:
32	chr1:194812845..194814562-chr1:194816106..194820089,3	K562	blood:
33	chr1:194816153..194817799-chr1:194825440..194827833,2	K562	blood:
34	chr1:194819540..194821176-chr1:194824149..194827039,2	K562	blood:
35	chr1:194820017..194822446-chr1:194943208..194945267,2	K562	blood:
36	chr1:194760364..194761866-chr13:92000592..92002297,2	K562	blood:
37	chr1:194743586..194745906-chr1:194766219..194768031,2	K562	blood:
38	chr1:194812847..194815308-chr1:194828726..194830936,3	K562	blood:
39	chr1:194839665..194841497-chr1:194856335..194858376,2	K562	blood:
40	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:
41	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
42	chr1:194810607..194812791-chr1:194825406..194826910,2	K562	blood:
43	chr1:194765896..194768506-chr1:194770244..194772765,3	K562	blood:
44	chr1:194796974..194798913-chr1:194802192..194803906,2	K562	blood:
45	chr1:194813574..194815333-chr1:194827926..194830696,3	K562	blood:
46	chr1:194755852..194758022-chr1:194772512..194774166,2	K562	blood:
47	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
48	chr1:194830894..194836206-chr1:194840671..194844167,5	K562	blood:
49	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
50	chr1:194864008..194866177-chr1:194870859..194873394,2	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
ENSG00000163636	chromatin interactions
ENSG00000023572	chromatin interactions

Extended variants
information (count: 4312 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4312 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148199937	chr1:194724808-194724809	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572654371	chr1:194724854-194724855	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145314444	chr1:194724889-194724890	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533567642	chr1:194724890-194724891	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554909398	chr1:194724968-194724969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182925427	chr1:194725035-194725036	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186806800	chr1:194725091-194725092	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191353025	chr1:194725103-194725104	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372730346	chr1:194725127-194725128	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563205025	chr1:194725132-194725133	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368306197	chr1:194725137-194725138	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs71677527	chr1:194725139-194725140	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs138354914	chr1:194725171-194725172	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373671018	chr1:194725186-194725187	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560208922	chr1:194725245-194725246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527547628	chr1:194725252-194725253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549433042	chr1:194725267-194725268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147638719	chr1:194725288-194725289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183124126	chr1:194725343-194725344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533339487	chr1:194725353-194725354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541337300	chr1:194737805-194737806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58953451	chr1:194737827-194737828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71565557	chr1:194737828-194737829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112500794	chr1:194737829-194737830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200354622	chr1:194737839-194737840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559749536	chr1:194737841-194737842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181513776	chr1:194737846-194737847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539618731	chr1:194737898-194737899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548670129	chr1:194737918-194737919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369931657	chr1:194737934-194737935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567391569	chr1:194737941-194737942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531415008	chr1:194737977-194737978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550038779	chr1:194737983-194737984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571473316	chr1:194737999-194738000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187040227	chr1:194738023-194738024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554127933	chr1:194738027-194738028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114537776	chr1:194738032-194738033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536683242	chr1:194738054-194738055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554644826	chr1:194738061-194738062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191127069	chr1:194738079-194738080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146817123	chr1:194738082-194738083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12029182	chr1:194738119-194738120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558586356	chr1:194738123-194738124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187591097	chr1:194738124-194738125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372597807	chr1:194738143-194738144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9628678	chr1:194738177-194738178	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370614497	chr1:194738190-194738191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138832500	chr1:194741608-194741609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116490480	chr1:194741623-194741624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561787317	chr1:194741637-194741638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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	21293372	CNVD
Medulloblastoma	21163964	CNVD
Maculopathy	22022419	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194724800-194725000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:194725000-194725200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:194725200-194725400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:194737800-194738200	Enhancers	Ovary	ovary
5	chr1:194741600-194762200	Weak transcription	K562	blood
6	chr1:194748400-194748800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:194758400-194759400	Enhancers	Ovary	ovary
8	chr1:194762200-194763000	ZNF genes & repeats	K562	blood
9	chr1:194763000-194807600	Weak transcription	K562	blood
10	chr1:194776400-194777600	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:194777000-194777600	Enhancers	GM12878-XiMat	blood
12	chr1:194779000-194779400	Enhancers	Fetal Lung	lung
13	chr1:194787000-194787200	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:194787800-194788000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:194798200-194799400	Enhancers	Primary B cells from cord blood	blood
16	chr1:194798200-194801600	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:194798800-194799200	Enhancers	GM12878-XiMat	blood
18	chr1:194799200-194799800	Active TSS	GM12878-XiMat	blood
19	chr1:194799400-194800000	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:194799800-194800000	Flanking Active TSS	GM12878-XiMat	blood
21	chr1:194800000-194800400	Enhancers	GM12878-XiMat	blood
22	chr1:194800000-194800800	Enhancers	Primary B cells from cord blood	blood
23	chr1:194802200-194802800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:194802200-194803400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:194807600-194807800	Strong transcription	K562	blood
26	chr1:194807800-194808000	ZNF genes & repeats	K562	blood
27	chr1:194808000-194825600	Weak transcription	K562	blood
28	chr1:194824400-194825800	Weak transcription	Right Atrium	heart
29	chr1:194825600-194831000	Active TSS	K562	blood
30	chr1:194825800-194826000	ZNF genes & repeats	Right Atrium	heart
31	chr1:194826000-194829200	Weak transcription	Right Atrium	heart
32	chr1:194839800-194840800	Enhancers	Primary B cells from peripheral blood	blood
33	chr1:194842200-194842800	Enhancers	K562	blood
34	chr1:194852400-194852600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:194852800-194858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:194858400-194858800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:194858400-194858800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:194858400-194858800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:194858400-194858800	ZNF genes & repeats	Gastric	stomach
41	chr1:194858400-194858800	ZNF genes & repeats	Right Atrium	heart
42	chr1:194858800-194859400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:194858800-194860800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:194860800-194861000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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