Variant report

Variant	esv3387825
Chromosome Location	chr1:209433029-209437127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209436086..209438549-chr1:209440890..209443254,2	K562	blood:

Variant related genes	Relation type
ENSG00000225712	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560583735	chr1:209433060-209433061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527667169	chr1:209433145-209433146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115283316	chr1:209433160-209433161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374352030	chr1:209433164-209433165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373400320	chr1:209433166-209433167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116371472	chr1:209433199-209433200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191188036	chr1:209433200-209433201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550399452	chr1:209433231-209433232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183492307	chr1:209433234-209433235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147014485	chr1:209433246-209433247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554365228	chr1:209433260-209433261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376818807	chr1:209433279-209433280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566491401	chr1:209433314-209433315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77329914	chr1:209433367-209433368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77805004	chr1:209433374-209433375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576730258	chr1:209433458-209433459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544061858	chr1:209433507-209433508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34915400	chr1:209433525-209433526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554042519	chr1:209433552-209433553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34998894	chr1:209433612-209433613	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555981452	chr1:209433686-209433687	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574291451	chr1:209433699-209433700	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188344646	chr1:209433700-209433701	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560370739	chr1:209433737-209433738	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527754976	chr1:209433759-209433760	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201556649	chr1:209433760-209433761	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545896794	chr1:209433766-209433767	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564423803	chr1:209433797-209433798	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35594247	chr1:209433810-209433811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532050770	chr1:209433830-209433831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550484334	chr1:209433887-209433888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192290516	chr1:209433970-209433971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529443337	chr1:209434055-209434056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570902033	chr1:209434077-209434078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548300324	chr1:209434089-209434090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139238247	chr1:209434090-209434091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566460151	chr1:209434153-209434154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2800932	chr1:209434184-209434185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs112905661	chr1:209434192-209434193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570105290	chr1:209434201-209434202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537796224	chr1:209434243-209434244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183163222	chr1:209434284-209434285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187894717	chr1:209434290-209434291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535309511	chr1:209434352-209434353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543163317	chr1:209434361-209434362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374528140	chr1:209434375-209434376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191154935	chr1:209434426-209434427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553906538	chr1:209434459-209434460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377276441	chr1:209434509-209434510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546276327	chr1:209434519-209434520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	21611746	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	20406844	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209424800-209439600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:209432400-209434200	Enhancers	Hela-S3	cervix
3	chr1:209433600-209433800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:209433800-209441000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:209434200-209437600	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links