Variant report

Variant	esv3374163
Chromosome Location	chr1:224254396-224254921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224253963..224257240-chr1:224261848..224265687,3	K562	blood:
2	chr1:224252218..224254539-chr1:224278231..224280105,2	K562	blood:
3	chr1:224254185..224256416-chr1:224258081..224260158,2	K562	blood:
4	chr1:224253604..224255684-chr1:224268887..224271520,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554518587	chr1:224254410-224254411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191225463	chr1:224254426-224254427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543635510	chr1:224254497-224254498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575037685	chr1:224254538-224254539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10715269	chr1:224254569-224254570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537349694	chr1:224254591-224254592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148055865	chr1:224254592-224254593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559416077	chr1:224254611-224254612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372677728	chr1:224254629-224254630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548177684	chr1:224254717-224254718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7536577	chr1:224254719-224254720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369876638	chr1:224254726-224254727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116542961	chr1:224254728-224254729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552329224	chr1:224254729-224254730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6690580	chr1:224254733-224254734	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs6690667	chr1:224254752-224254753	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs573389160	chr1:224254790-224254791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138868904	chr1:224254817-224254818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71574311	chr1:224254865-224254866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35842255	chr1:224254867-224254868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535445002	chr1:224254871-224254872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6604884	chr1:224254890-224254891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:93)

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
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
Cancer	17060936	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224249600-224255200	Weak transcription	K562	blood
2	chr1:224249600-224256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:224250600-224257800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:224252000-224254400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr1:224252000-224256200	Enhancers	NHDF-Ad	bronchial
6	chr1:224252000-224256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:224252400-224256200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:224252600-224255000	Weak transcription	HSMM	muscle
9	chr1:224252600-224255400	Weak transcription	Small Intestine	intestine
10	chr1:224252600-224256200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:224252600-224258000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:224253200-224256000	Enhancers	HUVEC	blood vessel
13	chr1:224253400-224254400	Enhancers	NHLF	lung
14	chr1:224253400-224255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:224253600-224255000	Weak transcription	NHEK	skin
16	chr1:224253600-224255000	Weak transcription	Osteobl	bone
17	chr1:224253600-224255400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:224253600-224255400	Weak transcription	NH-A	brain
19	chr1:224253800-224254800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:224253800-224255000	Weak transcription	HMEC	breast
21	chr1:224253800-224255400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:224253800-224255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:224253800-224256000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:224253800-224256000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:224253800-224260400	Weak transcription	Pancreas	Pancrea
26	chr1:224254000-224254400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr1:224254000-224254800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:224254200-224254400	Enhancers	Stomach Mucosa	stomach
29	chr1:224254200-224256400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:224254400-224255000	Weak transcription	NHLF	lung
31	chr1:224254400-224255200	Weak transcription	Stomach Mucosa	stomach
32	chr1:224254400-224255600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:224254400-224256000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:224254800-224255200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:224254800-224256200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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