Variant report

Variant	esv1813649
Chromosome Location	chr1:224085956-224090857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375474110	chr1:224085963-224085964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369954567	chr1:224086022-224086023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564366991	chr1:224086088-224086089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372707930	chr1:224086186-224086187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528569986	chr1:224086191-224086192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73116456	chr1:224086215-224086216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562068951	chr1:224086227-224086228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369738080	chr1:224086258-224086259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186446810	chr1:224086291-224086292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372886196	chr1:224086305-224086306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571712474	chr1:224086316-224086317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377480180	chr1:224086328-224086329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190915658	chr1:224086389-224086390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74966021	chr1:224086434-224086435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569988614	chr1:224086439-224086440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150399863	chr1:224086456-224086457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138971946	chr1:224086460-224086461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141173153	chr1:224086528-224086529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370798253	chr1:224086529-224086530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182906551	chr1:224086532-224086533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1856205	chr1:224086567-224086568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529064028	chr1:224086597-224086598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs36031171	chr1:224086641-224086642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3908867	chr1:224086646-224086647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530857141	chr1:224086671-224086672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552388667	chr1:224086677-224086678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4098320	chr1:224086691-224086692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377371506	chr1:224086724-224086725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371239678	chr1:224086735-224086736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375498638	chr1:224086771-224086772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570598279	chr1:224086775-224086776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376762395	chr1:224086784-224086785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187541664	chr1:224086838-224086839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192964967	chr1:224086853-224086854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144481248	chr1:224086855-224086856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3872187	chr1:224086868-224086869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535094488	chr1:224086892-224086893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3992795	chr1:224086933-224086934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557201379	chr1:224086990-224086991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575511006	chr1:224087001-224087002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569050011	chr1:224087250-224087251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3992796	chr1:224087256-224087257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs3992797	chr1:224087280-224087281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546122813	chr1:224087307-224087308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182971513	chr1:224087309-224087310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573404072	chr1:224087369-224087370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2126388	chr1:224087383-224087384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3992798	chr1:224087396-224087397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540683034	chr1:224087419-224087420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562058033	chr1:224087447-224087448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	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
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224084800-224086400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:224085000-224086000	Weak transcription	Psoas Muscle	Psoas
3	chr1:224085400-224087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:224085600-224086200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:224086000-224086400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:224086000-224086400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:224086000-224086400	Enhancers	Psoas Muscle	Psoas
8	chr1:224086000-224086400	Enhancers	NHDF-Ad	bronchial
9	chr1:224086200-224087600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:224087600-224087800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:224087600-224087800	Enhancers	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links