Variant report

Variant	nsv548691
Chromosome Location	chr1:194525887-194637756
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:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194583454..194584474-chr7:89057256..89058256,3	MCF-7	breast:
2	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
3	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
4	chr1:194583954..194584474-chr4:116457976..116458496,2	MCF-7	breast:
5	chr1:194627100..194628913-chr1:194635785..194637890,2	K562	blood:
6	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
7	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
8	chr1:194565462..194567193-chr1:194826327..194828767,2	K562	blood:
9	chr1:194583474..194584454-chr2:31059867..31060367,2	MCF-7	breast:
10	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
11	chr1:194627447..194629512-chr1:194630177..194631698,2	K562	blood:
12	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
13	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
14	chr1:194617591..194619361-chr1:194621923..194624446,2	K562	blood:
15	chr1:194624819..194626729-chr1:194711630..194714055,2	K562	blood:
16	chr1:194625855..194628671-chr1:194827046..194829972,3	K562	blood:
17	chr1:194625999..194627526-chr1:194632822..194634735,2	K562	blood:
18	chr1:194614011..194616413-chr1:194837683..194840680,2	K562	blood:
19	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
20	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
21	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
22	chr1:194624614..194627443-chr1:194667316..194668924,2	K562	blood:
23	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
24	chr1:194583954..194584474-chr11:21332888..21333408,2	MCF-7	breast:
25	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
26	chr1:194617867..194623924-chr1:194625130..194627689,6	K562	blood:
27	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:
28	chr1:194626043..194628671-chr1:194827977..194829972,2	K562	blood:
29	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
30	chr1:194519474..194521221-chr1:194527873..194530649,2	K562	blood:
31	chr1:194617591..194619813-chr1:194622946..194624693,2	K562	blood:
32	chr1:194612527..194614953-chr1:194616786..194619309,3	K562	blood:
33	chr1:194606466..194608189-chr1:194645387..194647364,2	K562	blood:
34	chr1:194532647..194534539-chr1:194535882..194538033,2	K562	blood:
35	chr1:194599074..194600731-chr1:194604037..194606753,2	K562	blood:
36	chr1:194630620..194633320-chr1:194634573..194637306,2	K562	blood:
37	chr1:194583954..194584474-chr4:146024840..146025360,2	MCF-7	breast:
38	chr1:194624991..194627301-chr1:194776393..194778784,2	K562	blood:
39	chr1:194614073..194616914-chr1:194621058..194622953,2	K562	blood:
40	chr1:194603761..194606610-chr1:194613732..194616583,2	K562	blood:
41	chr1:194557101..194559742-chr1:194559800..194562767,2	K562	blood:
42	chr1:194553579..194555823-chr1:194557889..194560513,2	K562	blood:

No data

Extended variants
information (count: 427 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574415001	chr1:194533201-194533202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76591088	chr1:194533222-194533223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79687604	chr1:194533247-194533248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575089809	chr1:194533265-194533266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545731467	chr1:194533287-194533288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185776802	chr1:194533312-194533313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528491173	chr1:194533412-194533413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188936843	chr1:194533420-194533421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181706071	chr1:194533437-194533438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529442145	chr1:194533447-194533448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551074466	chr1:194533467-194533468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569520193	chr1:194533482-194533483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539997524	chr1:194533499-194533500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552053226	chr1:194533573-194533574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567024918	chr1:194533578-194533579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549231865	chr1:194544803-194544804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567445224	chr1:194544806-194544807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59194082	chr1:194544819-194544820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs115221560	chr1:194544824-194544825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571624117	chr1:194544864-194544865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538609468	chr1:194544901-194544902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182707579	chr1:194544939-194544940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565803282	chr1:194544954-194544955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537897608	chr1:194545037-194545038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4370750	chr1:194545049-194545050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375496773	chr1:194545147-194545148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534463794	chr1:194545152-194545153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554772797	chr1:194545178-194545179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185118424	chr1:194545226-194545227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546504967	chr1:194545228-194545229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537792601	chr1:194545272-194545273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558947252	chr1:194545315-194545316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567986727	chr1:194545322-194545323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189927074	chr1:194545325-194545326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183257464	chr1:194545326-194545327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560173171	chr1:194545446-194545447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572198085	chr1:194545471-194545472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368520154	chr1:194545490-194545491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189182766	chr1:194545501-194545502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73063221	chr1:194545502-194545503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs373095823	chr1:194545531-194545532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550052352	chr1:194545538-194545539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527876343	chr1:194545555-194545556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532555599	chr1:194545561-194545562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534229270	chr1:194545570-194545571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192901984	chr1:194545578-194545579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565717321	chr1:194545665-194545666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76320745	chr1:194545670-194545671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183831273	chr1:194545684-194545685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570242478	chr1:194545716-194545717	Enhancers	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194533200-194533600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr1:194544800-194546200	Enhancers	Dnd41	blood
3	chr1:194552800-194553400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:194553400-194553600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
5	chr1:194567400-194567600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:194569400-194570000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:194575200-194576400	Enhancers	Dnd41	blood
8	chr1:194579600-194580000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:194585000-194585200	Enhancers	Dnd41	blood
10	chr1:194585200-194585600	Flanking Active TSS	Dnd41	blood
11	chr1:194585600-194586400	Active TSS	Dnd41	blood
12	chr1:194594200-194594400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:194626200-194626400	Active TSS	K562	blood
14	chr1:194626400-194626800	Flanking Active TSS	K562	blood
15	chr1:194626600-194627200	Active TSS	Placenta	Placenta
16	chr1:194626600-194627400	Enhancers	HepG2	liver
17	chr1:194626800-194627800	Active TSS	K562	blood
18	chr1:194627000-194627600	Enhancers	HMEC	breast
19	chr1:194627800-194628200	Enhancers	K562	blood
20	chr1:194637200-194644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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