Variant report

Variant	nsv526748
Chromosome Location	chr4:7521802-7523509
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	chr4:7520525..7523407-chr4:7542100..7544094,2	K562	blood:
2	chr4:7516846..7519696-chr4:7521879..7524111,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13117257	chr4:7521802-7521803	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75891318	chr4:7521856-7521857	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187862806	chr4:7521866-7521867	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11735062	chr4:7521878-7521879	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568856829	chr4:7521904-7521905	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190035746	chr4:7521907-7521908	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574974159	chr4:7521914-7521915	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558744944	chr4:7521946-7521947	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182748812	chr4:7521947-7521948	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533733209	chr4:7521990-7521991	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555185983	chr4:7521999-7522000	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567408589	chr4:7522024-7522025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs577068055	chr4:7522033-7522034	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs187482936	chr4:7522041-7522042	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs192953599	chr4:7522078-7522079	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs184560336	chr4:7522125-7522126	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs554452201	chr4:7522129-7522130	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs572823904	chr4:7522132-7522133	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs376486740	chr4:7522152-7522153	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs4689772	chr4:7522187-7522188	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573750362	chr4:7522234-7522235	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4689773	chr4:7522239-7522240	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs552577608	chr4:7522252-7522253	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562302170	chr4:7522283-7522284	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6819749	chr4:7522335-7522336	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551135034	chr4:7522342-7522343	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560383737	chr4:7522344-7522345	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111421398	chr4:7522375-7522376	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561041963	chr4:7522378-7522379	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78033216	chr4:7522384-7522385	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537915674	chr4:7522449-7522450	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550258435	chr4:7522462-7522463	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571505461	chr4:7522542-7522543	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73082847	chr4:7522545-7522546	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565867383	chr4:7522578-7522579	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4689774	chr4:7522628-7522629	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572754151	chr4:7522633-7522634	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs536967015	chr4:7522672-7522673	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs188694412	chr4:7522678-7522679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs576717071	chr4:7522702-7522703	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs140574754	chr4:7522742-7522743	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs73082848	chr4:7522755-7522756	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs149892199	chr4:7522772-7522773	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs569617958	chr4:7522800-7522801	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577702037	chr4:7522813-7522814	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544975434	chr4:7522874-7522875	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74668548	chr4:7522918-7522919	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527556857	chr4:7522919-7522920	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571764524	chr4:7522920-7522921	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548882648	chr4:7522944-7522945	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7515800-7522000	Enhancers	Fetal Heart	heart
2	chr4:7518800-7523600	Weak transcription	Right Atrium	heart
3	chr4:7519400-7522200	Enhancers	Fetal Brain Female	brain
4	chr4:7520000-7522000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr4:7520000-7522800	Enhancers	Brain Germinal Matrix	brain
6	chr4:7520000-7524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:7520200-7522200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:7520200-7525400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr4:7520400-7524600	Enhancers	Fetal Brain Male	brain
10	chr4:7520600-7522000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
11	chr4:7520600-7522200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:7521000-7527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:7521200-7522400	Bivalent Enhancer	Fetal Stomach	stomach
14	chr4:7521600-7522000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7521800-7522000	Bivalent Enhancer	Right Ventricle	heart
16	chr4:7522000-7522200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:7522000-7523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:7522200-7522600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
19	chr4:7522200-7522600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr4:7522800-7523000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7522800-7523800	Weak transcription	Brain Germinal Matrix	brain

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