Variant report

Variant	rs60488575
Chromosome Location	chr7:21283400-21283401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12665947	1.00[AMR][1000 genomes]
rs12667180	1.00[AMR][1000 genomes]
rs12667518	1.00[AMR][1000 genomes]
rs12671297	1.00[AMR][1000 genomes]
rs12672762	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12674300	1.00[AMR][1000 genomes]
rs16872681	1.00[AMR][1000 genomes]
rs16872692	1.00[AMR][1000 genomes]
rs16872749	1.00[AMR][1000 genomes]
rs16872771	1.00[AMR][1000 genomes]
rs17143826	1.00[AMR][1000 genomes]
rs17143829	1.00[AMR][1000 genomes]
rs17143840	1.00[AMR][1000 genomes]
rs17143848	1.00[AMR][1000 genomes]
rs17143860	1.00[AMR][1000 genomes]
rs17143868	1.00[AMR][1000 genomes]
rs17143883	1.00[AMR][1000 genomes]
rs17143886	1.00[AMR][1000 genomes]
rs17143902	1.00[AMR][1000 genomes]
rs17143906	1.00[AMR][1000 genomes]
rs17144165	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17144175	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17144266	1.00[AMR][1000 genomes]
rs17144289	1.00[AMR][1000 genomes]
rs17144309	1.00[AMR][1000 genomes]
rs17144314	1.00[AMR][1000 genomes]
rs17144318	1.00[AMR][1000 genomes]
rs1987514	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2108311	1.00[AMR][1000 genomes]
rs2390476	1.00[AMR][1000 genomes]
rs34111257	1.00[AMR][1000 genomes]
rs4140957	1.00[AMR][1000 genomes]
rs4140958	1.00[AMR][1000 genomes]
rs4719643	1.00[AMR][1000 genomes]
rs4719659	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4721983	1.00[AMR][1000 genomes]
rs4721987	1.00[AMR][1000 genomes]
rs4721989	1.00[AMR][1000 genomes]
rs4721990	1.00[AMR][1000 genomes]
rs4721999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56735308	1.00[AMR][1000 genomes]
rs58578432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61642822	1.00[AMR][1000 genomes]
rs6970515	0.87[ASN][1000 genomes]
rs6980287	0.97[ASN][1000 genomes]
rs73682328	1.00[AMR][1000 genomes]
rs73685049	1.00[AMR][1000 genomes]
rs964303	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478244	chr7:21044211-21417347	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv3478245	chr7:21044211-21417347	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1020852	chr7:21060791-21375050	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv538799	chr7:21060791-21375050	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1016705	chr7:21257416-21450943	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1792113	chr7:21271536-21298108	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21282600-21283400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:21282800-21283400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:21282800-21283600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:21282800-21283600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:21283200-21284400	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr7:21283400-21289400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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