Variant report

Variant	rs680055
Chromosome Location	chr7:99457605-99457606
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99451551..99454179-chr7:99455617..99458260,2	MCF-7	breast:
2	chr7:99438226..99440315-chr7:99455557..99458209,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000021461	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215184	1.00[ASN][1000 genomes]
rs10225908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	1.00[ASN][1000 genomes]
rs11505840	1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11980179	1.00[ASN][1000 genomes]
rs11981167	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28371764	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28449324	1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34288759	1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649099	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs480596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487813	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs496000	1.00[CHB][hapmap]
rs501275	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs516481	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517284	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs545400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	0.85[CEU][hapmap];0.90[EUR][1000 genomes];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[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667660	1.00[CHB][hapmap];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[CHB][hapmap];1.00[ASN][1000 genomes]
rs679320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7787525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7798789	1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs800673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99433800-99465000	Strong transcription	Liver	Liver
2	chr7:99456600-99460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:99457000-99458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:99457200-99458400	Enhancers	HSMMtube	muscle
5	chr7:99457200-99458600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:99457200-99458800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:99457200-99458800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr7:99457200-99459000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:99457200-99459000	Enhancers	NH-A	brain
10	chr7:99457400-99458000	Enhancers	NHEK	skin
11	chr7:99457400-99458200	Flanking Active TSS	HepG2	liver
12	chr7:99457400-99458200	Flanking Active TSS	HMEC	breast
13	chr7:99457400-99458400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr7:99457400-99458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:99457400-99458800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:99457400-99459000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:99457400-99459000	Enhancers	HSMM	muscle
18	chr7:99457400-99459200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:99457400-99459400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:99457600-99457800	Flanking Active TSS	Osteobl	bone
21	chr7:99457600-99458200	Enhancers	Fetal Intestine Small	intestine
22	chr7:99457600-99458200	Enhancers	Pancreas	Pancrea
23	chr7:99457600-99458600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99457600-99458800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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