Variant report

Variant	rs57190330
Chromosome Location	chr4:55883541-55883542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10027862	1.00[AMR][1000 genomes]
rs10034873	1.00[EUR][1000 genomes]
rs10212910	1.00[EUR][1000 genomes]
rs11930183	1.00[AMR][1000 genomes]
rs12716019	1.00[AMR][1000 genomes]
rs1380065	1.00[AMR][1000 genomes]
rs1380070	1.00[AMR][1000 genomes]
rs1458821	1.00[AMR][1000 genomes]
rs1497481	1.00[AMR][1000 genomes]
rs1543930	1.00[AMR][1000 genomes]
rs1543931	1.00[AMR][1000 genomes]
rs1551639	1.00[AMR][1000 genomes]
rs17085066	1.00[AMR][1000 genomes]
rs17085320	1.00[EUR][1000 genomes]
rs17085340	1.00[EUR][1000 genomes]
rs17085382	1.00[EUR][1000 genomes]
rs17085431	1.00[EUR][1000 genomes]
rs1870380	1.00[AMR][1000 genomes]
rs2412636	1.00[AMR][1000 genomes]
rs28431274	1.00[EUR][1000 genomes]
rs28534637	1.00[EUR][1000 genomes]
rs28579065	1.00[EUR][1000 genomes]
rs28585443	1.00[EUR][1000 genomes]
rs28664865	1.00[EUR][1000 genomes]
rs28730308	1.00[EUR][1000 genomes]
rs41520946	1.00[EUR][1000 genomes]
rs4352535	1.00[AMR][1000 genomes]
rs59384774	1.00[AMR][1000 genomes]
rs60067051	1.00[AMR][1000 genomes]
rs6824124	1.00[AMR][1000 genomes]
rs6826761	1.00[AMR][1000 genomes]
rs6830995	1.00[EUR][1000 genomes]
rs6835587	1.00[EUR][1000 genomes]
rs6835605	1.00[AMR][1000 genomes]
rs6836091	1.00[EUR][1000 genomes]
rs6843015	1.00[EUR][1000 genomes]
rs73816854	1.00[AMR][1000 genomes]
rs73816855	1.00[AMR][1000 genomes]
rs73816856	1.00[AMR][1000 genomes]
rs73818439	1.00[AMR][1000 genomes]
rs7666097	1.00[AMR][1000 genomes]
rs7693155	1.00[EUR][1000 genomes]
rs9312659	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829939	chr4:55856771-56005011	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv432603	chr4:55877236-55970782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55880000-55885000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:55880200-55884000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:55880200-55885000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:55881000-55885000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:55881200-55884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:55881200-55885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:55882000-55885200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:55883000-55883800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:55883000-55884000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:55883000-55884000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:55883000-55884200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:55883000-55884200	Enhancers	HMEC	breast
13	chr4:55883200-55883800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:55883200-55884000	Enhancers	NHEK	skin
15	chr4:55883200-55884200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:55883400-55884000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:55883400-55886200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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