Variant report

Variant	rs12228693
Chromosome Location	chr12:44399089-44399090
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	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11182302	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11182309	0.81[ASN][1000 genomes]
rs11182360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182365	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182369	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182373	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182381	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11182383	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182384	1.00[CHB][hapmap]
rs11182385	1.00[CHB][hapmap]
rs11182386	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182388	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182394	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182396	1.00[CHB][hapmap]
rs11182399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182403	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182405	1.00[CHB][hapmap]
rs11182406	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182409	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11182413	1.00[AMR][1000 genomes]
rs12099769	1.00[CHB][hapmap]
rs12231403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12231978	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1565620	1.00[CHB][hapmap]
rs17094057	1.00[AMR][1000 genomes]
rs17094127	1.00[AMR][1000 genomes]
rs17094138	1.00[AMR][1000 genomes]
rs17094142	1.00[AMR][1000 genomes]
rs1976211	1.00[CHB][hapmap]
rs2012087	1.00[AMR][1000 genomes]
rs3858723	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3929354	1.00[CHB][hapmap]
rs6582494	1.00[JPT][hapmap]
rs6582495	1.00[CHB][hapmap]
rs7959226	1.00[CHB][hapmap]
rs7980005	1.00[CHB][hapmap]
rs8181703	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9919742	1.00[CHB][hapmap]

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	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv20512	chr12:44394412-44399214	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
7	chr12:44394600-44400000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44394600-44403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:44394800-44401800	Weak transcription	HMEC	breast
10	chr12:44395000-44401400	Weak transcription	Fetal Intestine Large	intestine
11	chr12:44397000-44399400	Weak transcription	Ovary	ovary
12	chr12:44398000-44402400	Weak transcription	HSMM	muscle

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