Variant report

Variant	rs10849782
Chromosome Location	chr12:121188837-121188838
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	chr12:121186636..121188144-chr12:121188175..121190452,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1027556	0.91[AMR][1000 genomes]
rs1039302	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10431387	0.91[AMR][1000 genomes]
rs10437838	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10744754	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10774568	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10774569	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10774571	0.91[AMR][1000 genomes]
rs10849783	0.82[EUR][1000 genomes]
rs10849786	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10849787	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849788	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10849790	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10849800	0.91[AMR][1000 genomes]
rs11065259	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11065266	0.88[EUR][1000 genomes]
rs11833706	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2393718	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2393725	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs3213568	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3213569	0.88[EUR][1000 genomes]
rs3213571	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4638383	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6489780	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6490303	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7135426	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs715319	0.91[AMR][1000 genomes]
rs7300695	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73229114	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7960784	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7965332	0.91[AMR][1000 genomes]
rs7977343	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
2	chr12:121177800-121197800	Weak transcription	Gastric	stomach
3	chr12:121178000-121194400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:121179800-121197400	Weak transcription	Spleen	Spleen
5	chr12:121180200-121197400	Weak transcription	Pancreas	Pancrea
6	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
7	chr12:121186200-121189200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
9	chr12:121186600-121192400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:121187200-121189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121187400-121189400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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