Variant report

Variant	rs7654417
Chromosome Location	chr4:119835208-119835209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119832570..119834117-chr4:119834530..119836748,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10021334	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098461	0.81[ASN][1000 genomes]
rs11098462	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374349	0.81[ASN][1000 genomes]
rs17050270	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17050285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28542234	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57021447	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62326792	0.87[ASN][1000 genomes]
rs62326836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62326841	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72671606	0.81[ASN][1000 genomes]
rs7349616	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs736692	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736693	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs736694	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661292	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7676506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119826800-119839600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:119831000-119837400	Weak transcription	Left Ventricle	heart
3	chr4:119831400-119840400	Weak transcription	Right Ventricle	heart
4	chr4:119831600-119838200	Weak transcription	Fetal Stomach	stomach
5	chr4:119831600-119847200	Weak transcription	Right Atrium	heart
6	chr4:119832600-119839000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:119832800-119836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:119832800-119838000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:119832800-119838800	Weak transcription	NH-A	brain
10	chr4:119832800-119840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:119833000-119837400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:119833000-119838400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:119833000-119839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:119833000-119845600	Weak transcription	Aorta	Aorta
15	chr4:119833200-119838000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:119833200-119838200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:119833200-119838200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:119833200-119838600	Weak transcription	NHDF-Ad	bronchial
19	chr4:119833600-119838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:119834800-119837400	Weak transcription	Colon Smooth Muscle	Colon
21	chr4:119835000-119836800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:119835200-119838000	Weak transcription	Ovary	ovary

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