Variant report

Variant	rs72788231
Chromosome Location	chr5:119849281-119849282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119848932..119850925-chr5:119866521..119868339,2	K562	blood:
2	chr5:119848883..119851465-chr5:119858913..119862355,3	K562	blood:
3	chr5:119848832..119850459-chr5:119850972..119852496,2	K562	blood:
4	chr5:119799024..119803543-chr5:119846360..119850142,7	K562	blood:
5	chr5:119797915..119802369-chr5:119845575..119850142,8	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10052263	0.91[ASN][1000 genomes]
rs10060164	0.91[ASN][1000 genomes]
rs10064951	0.91[ASN][1000 genomes]
rs10213989	0.95[ASN][1000 genomes]
rs10478473	0.95[ASN][1000 genomes]
rs10519636	0.91[ASN][1000 genomes]
rs1378262	0.91[ASN][1000 genomes]
rs16766	0.95[ASN][1000 genomes]
rs17146657	0.85[ASN][1000 genomes]
rs17146705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146710	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1823926	0.91[ASN][1000 genomes]
rs1823927	0.91[ASN][1000 genomes]
rs1902147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2655066	0.80[ASN][1000 genomes]
rs2691097	0.87[ASN][1000 genomes]
rs2691100	0.80[ASN][1000 genomes]
rs300956	0.91[ASN][1000 genomes]
rs3991306	0.95[ASN][1000 genomes]
rs41357149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6865123	0.80[ASN][1000 genomes]
rs6895369	0.91[ASN][1000 genomes]
rs72786234	0.81[AMR][1000 genomes]
rs72786244	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72786259	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788220	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788222	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788223	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788224	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788225	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7702580	0.95[ASN][1000 genomes]
rs7710004	0.95[ASN][1000 genomes]
rs921782	0.95[ASN][1000 genomes]
rs9327145	0.95[ASN][1000 genomes]
rs9687538	0.95[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr5:119836400-119852400	Weak transcription	HSMM	muscle
2	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
3	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
4	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:119847000-119850400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:119847000-119851400	Weak transcription	NHDF-Ad	bronchial
9	chr5:119847000-119852200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:119847000-119852200	Weak transcription	Osteobl	bone
11	chr5:119847400-119849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:119848000-119851400	Active TSS	K562	blood
13	chr5:119848000-119852200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:119848000-119852200	Weak transcription	NH-A	brain
15	chr5:119848200-119849400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:119848200-119850200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:119848200-119852200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:119848200-119852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:119848400-119849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:119849000-119850000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:119849200-119850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:119849200-119852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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