Variant report

Variant	rs57988109
Chromosome Location	chr7:80114607-80114608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80102854..80105069-chr7:80112565..80115333,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10241126	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250561	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10257864	1.00[EUR][1000 genomes]
rs10258421	1.00[EUR][1000 genomes]
rs10258426	1.00[EUR][1000 genomes]
rs10268151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268450	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975442	1.00[EUR][1000 genomes]
rs11978272	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11979641	1.00[EUR][1000 genomes]
rs11982052	1.00[EUR][1000 genomes]
rs28671281	1.00[EUR][1000 genomes]
rs4563810	0.81[EUR][1000 genomes]
rs73369030	1.00[EUR][1000 genomes]
rs73369032	1.00[EUR][1000 genomes]
rs73369081	1.00[EUR][1000 genomes]
rs73371005	0.90[EUR][1000 genomes]
rs7783668	1.00[EUR][1000 genomes]
rs7796785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7803173	0.90[EUR][1000 genomes]
rs7809064	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80108400-80116200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:80110200-80116800	Weak transcription	Adipose Nuclei	Adipose
3	chr7:80110200-80116800	Weak transcription	Placenta	Placenta
4	chr7:80110400-80116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:80110800-80118400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:80111200-80116600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:80111600-80117600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80111800-80116600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
10	chr7:80113200-80114800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:80113200-80115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:80113200-80116600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:80113200-80117800	Weak transcription	NHEK	skin
14	chr7:80114600-80115400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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