Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:113962329..113964847-chr1:113967290..113969646,2	MCF-7	breast:
2	chr1:113953158..113955943-chr1:113961137..113963670,3	MCF-7	breast:
3	chr1:113960654..113963568-chr1:113963893..113965453,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11102629	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11102646	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11578447	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12117465	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12117919	0.93[EUR][1000 genomes]
rs12119281	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12127683	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12130729	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131115	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12134802	0.89[EUR][1000 genomes]
rs12135714	0.89[EUR][1000 genomes]
rs12144505	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12145834	1.00[EUR][1000 genomes]
rs17448063	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461007	1.00[EUR][1000 genomes]
rs17461231	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17507884	1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs1936931	1.00[EUR][1000 genomes]
rs2359415	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55710846	0.98[EUR][1000 genomes]
rs6537788	0.82[YRI][hapmap];0.96[EUR][1000 genomes]
rs7533429	1.00[YRI][hapmap];1.00[EUR][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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1010110	chr1:113856612-113969417	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv1014757	chr1:113861524-113969417	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113948000-113969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113949800-113972200	Weak transcription	Aorta	Aorta
5	chr1:113958400-113963400	Weak transcription	A549	lung
6	chr1:113958400-113972200	Weak transcription	Ovary	ovary
7	chr1:113959400-113965000	Weak transcription	Liver	Liver
8	chr1:113959600-113964400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:113960600-113965000	Weak transcription	Fetal Stomach	stomach
10	chr1:113961200-113967800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:113961200-113971800	Weak transcription	Stomach Mucosa	stomach
12	chr1:113962400-113962800	Enhancers	Pancreas	Pancrea
13	chr1:113962600-113962800	Enhancers	Colonic Mucosa	Colon
14	chr1:113962600-113964800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:113962600-113965000	Weak transcription	Fetal Intestine Large	intestine

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