Variant report

Variant	rs7697423
Chromosome Location	chr4:48215021-48215022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11727072	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108221	0.93[AMR][1000 genomes]
rs1973578	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2017242	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196488	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56789983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58948620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192457	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60145199	0.93[ASN][1000 genomes]
rs60658182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67807921	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837345	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73244502	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246006	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73814695	0.93[ASN][1000 genomes]
rs73814697	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription 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	28 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	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
4	chr4:48214000-48216400	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:48214600-48215200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr4:48214600-48216200	Flanking Active TSS	GM12878-XiMat	blood
7	chr4:48214800-48215200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr4:48214800-48215200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr4:48214800-48215400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:48214800-48217000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:48214800-48218800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48214800-48221800	Weak transcription	Thymus	Thymus
13	chr4:48214800-48231200	Weak transcription	Liver	Liver
14	chr4:48215000-48216400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:48215000-48220000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:48215000-48220400	Weak transcription	K562	blood
17	chr4:48215000-48228200	Weak transcription	Primary B cells from peripheral blood	blood

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

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