Variant report

Variant	esv3401912
Chromosome Location	chr1:227700929-227705427
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227699513..227702199-chr1:227720616..227723558,2	K562	blood:
2	chr1:227704941..227707226-chr1:227710980..227713652,2	K562	blood:
3	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:
4	chr1:227705164..227707099-chr1:227922346..227924920,2	MCF-7	breast:
5	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:
6	chr1:227700137..227701945-chr1:227703714..227706435,2	MCF-7	breast:
7	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
8	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143740	chromatin interactions
ENSG00000081692	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556119372	chr1:227700930-227700931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61833956	chr1:227700935-227700936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570721051	chr1:227700945-227700946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377084377	chr1:227700950-227700951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61833957	chr1:227700968-227700969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61833958	chr1:227700977-227700978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61833959	chr1:227701002-227701003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151225021	chr1:227701008-227701009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574549516	chr1:227701074-227701075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71180756	chr1:227701090-227701091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374797631	chr1:227701091-227701092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552799728	chr1:227701104-227701105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568021370	chr1:227701119-227701120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543675908	chr1:227701156-227701157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140371120	chr1:227701159-227701160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544753323	chr1:227701188-227701189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369777463	chr1:227701189-227701190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191553108	chr1:227701204-227701205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16847912	chr1:227701235-227701236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545547302	chr1:227701305-227701306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369242180	chr1:227701306-227701307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182180575	chr1:227701317-227701318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202131189	chr1:227701451-227701452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199778949	chr1:227701452-227701453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114021138	chr1:227701481-227701482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16859962	chr1:227701531-227701532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs116635999	chr1:227701532-227701533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549768677	chr1:227705205-227705206	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139495614	chr1:227705291-227705292	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529397381	chr1:227705327-227705328	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs566802985	chr1:227705373-227705374	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149667854	chr1:227705417-227705418	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227700400-227701400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:227701400-227701600	Enhancers	Pancreatic Islets	Pancreatic Islet

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