Variant report

Variant	rs558002
Chromosome Location	chr7:99433789-99433790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99433750..99434429-chr7:113008535..113009149,2	MCF-7	breast:
2	chr7:99429881..99432803-chr7:99433485..99436669,5	K562	blood:
3	chr7:99432826..99435527-chr7:99436007..99438743,2	K562	blood:
4	chr7:99423210..99426949-chr7:99431563..99434644,4	K562	blood:
5	chr7:99148029..99149878-chr7:99432203..99434942,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000021461	Chromatin interaction
ENSG00000221909	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10215184	1.00[ASN][1000 genomes]
rs10225908	1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	1.00[ASN][1000 genomes]
rs10273424	1.00[ASN][1000 genomes]
rs11505840	1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	1.00[ASN][1000 genomes]
rs11980179	1.00[ASN][1000 genomes]
rs11981167	1.00[ASN][1000 genomes]
rs17161997	1.00[ASN][1000 genomes]
rs2082743	1.00[ASN][1000 genomes]
rs28371764	1.00[ASN][1000 genomes]
rs28449324	1.00[ASN][1000 genomes]
rs28988579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34288759	1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	1.00[ASN][1000 genomes]
rs35649099	1.00[ASN][1000 genomes]
rs472667	1.00[ASN][1000 genomes]
rs480596	1.00[ASN][1000 genomes]
rs487813	1.00[ASN][1000 genomes]
rs496000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs501275	1.00[ASN][1000 genomes]
rs516481	1.00[ASN][1000 genomes]
rs517284	1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[ASN][1000 genomes]
rs545400	1.00[ASN][1000 genomes]
rs549061	1.00[ASN][1000 genomes]
rs558112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559239	1.00[ASN][1000 genomes]
rs565079	1.00[ASN][1000 genomes]
rs568859	1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	1.00[ASN][1000 genomes]
rs580123	1.00[ASN][1000 genomes]
rs583353	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585071	1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	1.00[ASN][1000 genomes]
rs620020	1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66629054	1.00[ASN][1000 genomes]
rs667660	1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	1.00[ASN][1000 genomes]
rs675644	1.00[ASN][1000 genomes]
rs678040	1.00[ASN][1000 genomes]
rs679320	1.00[ASN][1000 genomes]
rs680055	1.00[ASN][1000 genomes]
rs687134	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs688926	1.00[ASN][1000 genomes]
rs694924	1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7787525	1.00[ASN][1000 genomes]
rs7798789	1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[ASN][1000 genomes]
rs800673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99422800-99437400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:99427600-99435400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:99428800-99435000	Weak transcription	Stomach Mucosa	stomach
4	chr7:99429600-99435000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:99429800-99435200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:99431800-99433800	Weak transcription	Liver	Liver
7	chr7:99431800-99435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:99431800-99435400	Weak transcription	Pancreas	Pancrea
9	chr7:99432000-99435000	Weak transcription	Fetal Intestine Large	intestine
10	chr7:99432600-99435000	Weak transcription	Dnd41	blood
11	chr7:99432600-99435200	Weak transcription	HepG2	liver
12	chr7:99433400-99433800	Enhancers	K562	blood

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