Variant report

Variant	rs17030531
Chromosome Location	chr4:101793965-101793966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10007981	0.92[ASN][1000 genomes]
rs10020201	0.84[ASN][1000 genomes]
rs13102608	1.00[ASN][1000 genomes]
rs13120027	1.00[ASN][1000 genomes]
rs13132028	1.00[ASN][1000 genomes]
rs13138965	1.00[ASN][1000 genomes]
rs17030522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030525	1.00[ASN][1000 genomes]
rs17030528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030534	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17030619	0.92[ASN][1000 genomes]
rs17030636	0.92[ASN][1000 genomes]
rs28444682	1.00[ASN][1000 genomes]
rs4428287	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59485348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62307686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6830350	0.92[ASN][1000 genomes]
rs6831146	0.92[ASN][1000 genomes]
rs6835230	0.92[ASN][1000 genomes]
rs6835957	0.92[ASN][1000 genomes]
rs6840437	1.00[ASN][1000 genomes]
rs6853319	0.92[ASN][1000 genomes]
rs6853796	0.92[ASN][1000 genomes]
rs7655125	1.00[JPT][hapmap]
rs7658024	1.00[ASN][1000 genomes]
rs7659308	1.00[ASN][1000 genomes]
rs7667871	1.00[ASN][1000 genomes]
rs7676752	1.00[ASN][1000 genomes]
rs7677279	0.92[ASN][1000 genomes]
rs7677774	0.92[ASN][1000 genomes]
rs7678087	0.92[ASN][1000 genomes]
rs7678230	0.92[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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101786600-101796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:101789800-101794200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:101792600-101797400	Weak transcription	NHEK	skin
4	chr4:101793400-101794800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:101793800-101794000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:101793800-101794400	Enhancers	HMEC	breast
7	chr4:101793800-101794400	Enhancers	HSMM	muscle
8	chr4:101793800-101794600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:101793800-101794600	Enhancers	NH-A	brain

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