Variant report

Variant	rs73244502
Chromosome Location	chr4:48207802-48207803
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48206028..48209307-chr4:48238256..48241207,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11727072	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108221	0.80[AMR][1000 genomes]
rs1973578	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2017242	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56196488	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56789983	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58948620	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59192457	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60145199	0.93[ASN][1000 genomes]
rs60658182	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67807921	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6837345	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246006	0.87[AMR][1000 genomes]
rs73814695	0.93[ASN][1000 genomes]
rs73814697	0.93[ASN][1000 genomes]
rs7697423	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
3	chr4:48200200-48212400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:48202200-48210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:48203800-48212600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:48204600-48212600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:48205600-48208800	Enhancers	Fetal Brain Male	brain
9	chr4:48205800-48212600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:48206400-48212200	Weak transcription	Primary B cells from cord blood	blood
11	chr4:48206600-48208000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr4:48206600-48209000	Enhancers	K562	blood
13	chr4:48207000-48208200	Enhancers	Fetal Brain Female	brain
14	chr4:48207200-48208000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:48207200-48212600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:48207400-48209000	Weak transcription	Lung	lung
17	chr4:48207400-48209400	Enhancers	GM12878-XiMat	blood
18	chr4:48207400-48210000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:48207400-48212200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:48207400-48227800	Weak transcription	Esophagus	oesophagus
21	chr4:48207800-48213600	Weak transcription	Primary monocytes fromperipheralblood	blood

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