Variant report

Variant	rs2601592
Chromosome Location	chr4:18982876-18982877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10014091	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020388	0.97[EUR][1000 genomes]
rs10024481	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349668	0.87[EUR][1000 genomes]
rs1349669	0.87[EUR][1000 genomes]
rs1349670	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1377155	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1452558	0.83[EUR][1000 genomes]
rs1452560	0.87[EUR][1000 genomes]
rs1452561	0.87[EUR][1000 genomes]
rs1452562	0.87[EUR][1000 genomes]
rs1452566	0.87[EUR][1000 genomes]
rs1452567	0.87[EUR][1000 genomes]
rs1452568	0.87[EUR][1000 genomes]
rs1452569	0.83[EUR][1000 genomes]
rs1452570	0.87[EUR][1000 genomes]
rs1452571	0.87[EUR][1000 genomes]
rs185936	0.95[EUR][1000 genomes]
rs1901618	0.87[EUR][1000 genomes]
rs1993179	0.97[EUR][1000 genomes]
rs207278	0.87[EUR][1000 genomes]
rs207279	0.87[EUR][1000 genomes]
rs207369	0.92[EUR][1000 genomes]
rs207370	0.92[EUR][1000 genomes]
rs207372	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207373	0.90[EUR][1000 genomes]
rs207374	0.90[EUR][1000 genomes]
rs207375	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207376	0.90[EUR][1000 genomes]
rs207378	0.90[EUR][1000 genomes]
rs207379	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207380	0.90[EUR][1000 genomes]
rs207381	0.90[EUR][1000 genomes]
rs207382	0.90[EUR][1000 genomes]
rs207383	0.95[EUR][1000 genomes]
rs207384	0.95[EUR][1000 genomes]
rs207385	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207400	0.87[EUR][1000 genomes]
rs2123315	0.87[EUR][1000 genomes]
rs2123316	0.87[EUR][1000 genomes]
rs2123319	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123320	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123321	0.87[EUR][1000 genomes]
rs2256795	0.97[EUR][1000 genomes]
rs2537918	0.97[EUR][1000 genomes]
rs2537919	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537924	0.87[EUR][1000 genomes]
rs2537929	0.87[EUR][1000 genomes]
rs2537930	0.87[EUR][1000 genomes]
rs2537931	0.87[EUR][1000 genomes]
rs2537932	0.87[EUR][1000 genomes]
rs2537933	0.87[EUR][1000 genomes]
rs2537934	0.87[EUR][1000 genomes]
rs2537935	0.87[EUR][1000 genomes]
rs2537936	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537937	0.87[EUR][1000 genomes]
rs2537938	0.87[EUR][1000 genomes]
rs2537939	0.87[EUR][1000 genomes]
rs2537942	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537943	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537945	0.87[EUR][1000 genomes]
rs2537946	0.87[EUR][1000 genomes]
rs2601562	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601563	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2601574	0.87[EUR][1000 genomes]
rs2601575	0.87[EUR][1000 genomes]
rs2601576	0.87[EUR][1000 genomes]
rs2601580	0.87[EUR][1000 genomes]
rs2601581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601582	0.87[EUR][1000 genomes]
rs2601583	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601595	0.87[EUR][1000 genomes]
rs28625252	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1000054	chr4:18839588-19271261	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537051	chr4:18839588-19271261	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1008625	chr4:18880048-19148705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1000563	chr4:18924475-19246818	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1006775	chr4:18932671-18988369	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1003321	chr4:18936051-19117825	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18981000-18983200	Enhancers	Primary B cells from cord blood	blood
2	chr4:18982200-18983000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:18982200-18983000	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:18982200-18983000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:18982400-18983000	Enhancers	HMEC	breast
6	chr4:18982800-18983200	Enhancers	NHEK	skin

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