Variant report

Variant	rs57537230
Chromosome Location	chr4:54901262-54901263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10008718	1.00[AMR][1000 genomes]
rs1391764	1.00[AMR][1000 genomes]
rs1498831	1.00[AMR][1000 genomes]
rs17083589	1.00[AMR][1000 genomes]
rs17083604	1.00[AMR][1000 genomes]
rs57221039	1.00[AMR][1000 genomes]
rs57306680	1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143825	1.00[AMR][1000 genomes]
rs73143858	1.00[AMR][1000 genomes]
rs73143861	1.00[AMR][1000 genomes]
rs73143867	1.00[AMR][1000 genomes]
rs73143869	1.00[AMR][1000 genomes]
rs73143872	1.00[AMR][1000 genomes]
rs73817119	1.00[AMR][1000 genomes]
rs73817163	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73818160	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1794783	chr4:54850662-54943432	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1795083	chr4:54870229-54943432	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	esv1801874	chr4:54870229-54943432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54838400-54925400	Weak transcription	Aorta	Aorta
2	chr4:54859800-54916400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:54860800-54914200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54862800-54907200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:54866000-54924200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:54868000-54906400	Weak transcription	Fetal Stomach	stomach
7	chr4:54868400-54919400	Weak transcription	Left Ventricle	heart
8	chr4:54868400-54919400	Weak transcription	Right Ventricle	heart
9	chr4:54868800-54920800	Weak transcription	HSMMtube	muscle
10	chr4:54871000-54914600	Weak transcription	Placenta	Placenta
11	chr4:54880200-54904600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:54881200-54914200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:54882000-54907000	Weak transcription	Primary T cells from cord blood	blood
14	chr4:54882200-54902400	Weak transcription	Thymus	Thymus
15	chr4:54882200-54927200	Weak transcription	Pancreas	Pancrea
16	chr4:54882600-54902200	Weak transcription	Colonic Mucosa	Colon
17	chr4:54883800-54903000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr4:54884000-54927800	Weak transcription	Ovary	ovary
19	chr4:54886400-54914800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:54887200-54919400	Weak transcription	Gastric	stomach
21	chr4:54888400-54903000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54888400-54904600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:54889400-54906800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:54889600-54928600	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:54890000-54906600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:54890400-54905400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:54891800-54908600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr4:54891800-54920000	Weak transcription	Psoas Muscle	Psoas
29	chr4:54892000-54902400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:54892000-54905200	Weak transcription	Dnd41	blood
31	chr4:54892200-54904400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:54894000-54916400	Weak transcription	Fetal Kidney	kidney
33	chr4:54894200-54901800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:54894400-54914400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:54894800-54903400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:54895200-54902400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:54895200-54904800	Weak transcription	GM12878-XiMat	blood
38	chr4:54895200-54914200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:54895400-54902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:54895600-54907000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:54896000-54904200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:54896400-54916000	Weak transcription	NH-A	brain
43	chr4:54897400-54903000	Weak transcription	Fetal Intestine Large	intestine
44	chr4:54897400-54907200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:54897600-54902000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:54897600-54916800	Weak transcription	HepG2	liver
47	chr4:54897800-54903800	Weak transcription	NHLF	lung
48	chr4:54897800-54904200	Weak transcription	Adipose Nuclei	Adipose
49	chr4:54897800-54914200	Weak transcription	Brain Anterior Caudate	brain
50	chr4:54897800-54928600	Weak transcription	Brain Substantia Nigra	brain

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