Variant report

Variant	rs58005679
Chromosome Location	chr12:105349923-105349924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:105290364..105293204-chr12:105349716..105351702,2	MCF-7	breast:
3	chr12:105344565..105347442-chr12:105349621..105353002,3	K562	blood:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000265054	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10161522	0.94[EUR][1000 genomes]
rs10507186	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10507187	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10507188	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112276	0.94[EUR][1000 genomes]
rs11112277	0.94[EUR][1000 genomes]
rs11112279	0.94[EUR][1000 genomes]
rs11112283	0.89[EUR][1000 genomes]
rs11112303	0.86[EUR][1000 genomes]
rs11112307	0.88[EUR][1000 genomes]
rs11503466	0.88[EUR][1000 genomes]
rs12296144	0.91[EUR][1000 genomes]
rs12299385	0.88[EUR][1000 genomes]
rs12299936	0.94[EUR][1000 genomes]
rs12300005	0.88[EUR][1000 genomes]
rs12301432	0.88[EUR][1000 genomes]
rs12306191	0.94[EUR][1000 genomes]
rs12306443	0.94[EUR][1000 genomes]
rs12308952	0.94[EUR][1000 genomes]
rs12310790	0.88[EUR][1000 genomes]
rs12313077	0.94[EUR][1000 genomes]
rs12314995	0.94[EUR][1000 genomes]
rs12315975	0.94[EUR][1000 genomes]
rs12315983	0.94[EUR][1000 genomes]
rs12316001	0.88[EUR][1000 genomes]
rs12319632	0.94[EUR][1000 genomes]
rs12320024	0.94[EUR][1000 genomes]
rs12320195	0.94[EUR][1000 genomes]
rs12320880	0.94[EUR][1000 genomes]
rs12321224	0.94[EUR][1000 genomes]
rs12321226	0.94[EUR][1000 genomes]
rs12321381	0.94[EUR][1000 genomes]
rs17036439	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036463	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036494	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036505	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036509	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036534	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036542	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036549	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17041531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35879768	0.94[EUR][1000 genomes]
rs3812795	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3935722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077312	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4268581	0.94[EUR][1000 genomes]
rs4357778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58115870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58447363	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58483223	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60057011	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60096703	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60310033	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60809012	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60956548	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61638859	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131977	0.86[EUR][1000 genomes]
rs73387265	0.86[EUR][1000 genomes]
rs7970504	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9738733	0.86[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
3	chr12:105346800-105351400	Weak transcription	Small Intestine	intestine
4	chr12:105347200-105350600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:105347200-105350600	Enhancers	Liver	Liver
6	chr12:105347400-105350600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:105347400-105350600	Weak transcription	HepG2	liver
8	chr12:105347400-105350800	Weak transcription	NHEK	skin
9	chr12:105347400-105351400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105347600-105350000	Weak transcription	GM12878-XiMat	blood
11	chr12:105347800-105350800	Weak transcription	Hela-S3	cervix
12	chr12:105347800-105351000	Weak transcription	HUVEC	blood vessel
13	chr12:105348400-105350600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:105348400-105350600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:105349200-105350200	Enhancers	Stomach Mucosa	stomach
16	chr12:105349400-105350400	Weak transcription	Aorta	Aorta
17	chr12:105349400-105350600	Weak transcription	Fetal Brain Male	brain
18	chr12:105349400-105351000	Weak transcription	Placenta	Placenta
19	chr12:105349400-105351000	Weak transcription	Pancreas	Pancrea
20	chr12:105349600-105350600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:105349600-105350600	Weak transcription	A549	lung

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