Variant report

Variant	rs2300005
Chromosome Location	chr7:107911565-107911566
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107904463..107906961-chr7:107910225..107912402,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10464622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10464623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10464625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10464626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10464627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10464628	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12665964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667098	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12667206	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12669568	1.00[EUR][1000 genomes]
rs12671199	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12672376	0.90[EUR][1000 genomes]
rs12674151	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12674313	0.81[EUR][1000 genomes]
rs1269672	0.89[ASN][1000 genomes]
rs1269674	0.89[ASN][1000 genomes]
rs1269676	0.89[ASN][1000 genomes]
rs1269677	0.89[ASN][1000 genomes]
rs1269678	0.89[ASN][1000 genomes]
rs1269679	0.89[ASN][1000 genomes]
rs1269680	0.89[ASN][1000 genomes]
rs1269681	0.89[ASN][1000 genomes]
rs1269682	0.89[ASN][1000 genomes]
rs1269683	0.89[ASN][1000 genomes]
rs16872448	1.00[EUR][1000 genomes]
rs16872449	1.00[EUR][1000 genomes]
rs16872465	1.00[EUR][1000 genomes]
rs16872472	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17155207	1.00[EUR][1000 genomes]
rs17155253	1.00[EUR][1000 genomes]
rs17155277	1.00[EUR][1000 genomes]
rs17155280	1.00[EUR][1000 genomes]
rs17155301	1.00[EUR][1000 genomes]
rs17155316	1.00[EUR][1000 genomes]
rs17155345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17155362	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17155369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2072320	1.00[EUR][1000 genomes]
rs2272618	1.00[EUR][1000 genomes]
rs2299998	1.00[EUR][1000 genomes]
rs2300001	1.00[EUR][1000 genomes]
rs2300004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300008	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2300009	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2300011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3750140	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3753152	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817670	1.00[EUR][1000 genomes]
rs55772998	1.00[EUR][1000 genomes]
rs58432175	1.00[EUR][1000 genomes]
rs58523350	1.00[EUR][1000 genomes]
rs58799340	1.00[EUR][1000 genomes]
rs59173255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60503554	1.00[EUR][1000 genomes]
rs61040788	1.00[EUR][1000 genomes]
rs61057696	1.00[EUR][1000 genomes]
rs67456250	1.00[EUR][1000 genomes]
rs67592649	1.00[EUR][1000 genomes]
rs67940074	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6956041	1.00[EUR][1000 genomes]
rs6956711	1.00[EUR][1000 genomes]
rs6964394	1.00[EUR][1000 genomes]
rs6966259	1.00[EUR][1000 genomes]
rs6970634	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6978117	1.00[EUR][1000 genomes]
rs73199578	1.00[EUR][1000 genomes]
rs73199594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73199595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73199599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73199600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73201503	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73201504	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73201511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73201512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73201513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73201515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73414373	1.00[EUR][1000 genomes]
rs73727511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73727512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7777092	1.00[EUR][1000 genomes]
rs7777322	1.00[EUR][1000 genomes]
rs7783944	1.00[EUR][1000 genomes]
rs7784319	1.00[EUR][1000 genomes]
rs7784353	1.00[EUR][1000 genomes]
rs7785181	1.00[EUR][1000 genomes]
rs7796457	1.00[EUR][1000 genomes]
rs9641405	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv888942	chr7:107893695-108055858	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv888943	chr7:107893695-108058574	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030425	chr7:107910716-108041036	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107887400-107925000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:107907200-107923400	Weak transcription	Fetal Brain Male	brain
3	chr7:107907400-107919400	Weak transcription	HUVEC	blood vessel
4	chr7:107907400-107923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:107907800-107925000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:107909600-107918000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107910400-107912000	Enhancers	NH-A	brain
8	chr7:107911000-107912200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:107911400-107918400	Weak transcription	A549	lung
10	chr7:107911400-107922000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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