Variant report

Variant	nsv8846
Chromosome Location	chr1:224262713-224264965
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224261436..224263371-chr1:224265323..224267984,2	K562	blood:
2	chr1:224261586..224263198-chr1:224543525..224545857,2	MCF-7	breast:
3	chr1:224253963..224257240-chr1:224261848..224265687,3	K562	blood:
4	chr1:224250641..224252254-chr1:224261183..224263972,2	K562	blood:

Variant related genes	Relation type
ENSG00000143771	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146313760	chr1:224262742-224262743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539411929	chr1:224262750-224262751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184177293	chr1:224262779-224262780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567135214	chr1:224262784-224262785	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138467490	chr1:224262798-224262799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs556112387	chr1:224262819-224262820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs6604888	chr1:224262831-224262832	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34012664	chr1:224262849-224262850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142033797	chr1:224262887-224262888	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544824038	chr1:224262936-224262937	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536121742	chr1:224262969-224262970	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150664836	chr1:224262972-224262973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6604889	chr1:224262989-224262990	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545363357	chr1:224263022-224263023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538604155	chr1:224263026-224263027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188560225	chr1:224263081-224263082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369220373	chr1:224263082-224263083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139892106	chr1:224263147-224263148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs10799464	chr1:224263149-224263150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs529012568	chr1:224263218-224263219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550403237	chr1:224263275-224263276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568933388	chr1:224263283-224263284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532916539	chr1:224263310-224263311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553382529	chr1:224263346-224263347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536381648	chr1:224263357-224263358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149892507	chr1:224263361-224263362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533792617	chr1:224263362-224263363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12725040	chr1:224263375-224263376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs4654002	chr1:224263382-224263383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538436667	chr1:224263418-224263419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574213109	chr1:224263492-224263493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370866796	chr1:224263505-224263506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192210627	chr1:224263506-224263507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578036813	chr1:224263516-224263517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545137397	chr1:224263520-224263521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554260218	chr1:224263538-224263539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4654004	chr1:224263554-224263555	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs542620950	chr1:224263562-224263563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561637925	chr1:224263563-224263564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545546596	chr1:224263574-224263575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543982769	chr1:224263587-224263588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562575894	chr1:224263598-224263599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4654005	chr1:224263604-224263605	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs376124931	chr1:224263647-224263648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386369767	chr1:224263648-224263649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71166302	chr1:224263658-224263659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551163761	chr1:224263694-224263695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35493349	chr1:224263713-224263714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184468793	chr1:224263724-224263725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs207461196	chr1:224263732-224263733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224256200-224267800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:224259600-224263000	Weak transcription	K562	blood
3	chr1:224263000-224264000	Enhancers	K562	blood
4	chr1:224263800-224264200	Enhancers	Stomach Mucosa	stomach
5	chr1:224264000-224265000	Weak transcription	K562	blood

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