Variant report

Variant	rs74099862
Chromosome Location	chr12:68308263-68308264
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68304416..68306533-chr12:68307789..68310636,2	MCF-7	breast:
2	chr12:68307323..68311643-chr12:68312148..68315840,4	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs28496265	1.00[EUR][1000 genomes]
rs2906847	1.00[EUR][1000 genomes]
rs55916709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56131707	1.00[EUR][1000 genomes]
rs56215754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57329873	1.00[AMR][1000 genomes]
rs58019545	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58123354	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58233262	1.00[AMR][1000 genomes]
rs58429466	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58627876	1.00[EUR][1000 genomes]
rs58918170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58973781	1.00[EUR][1000 genomes]
rs59155952	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59781510	1.00[EUR][1000 genomes]
rs61260239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7294696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7297341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7303763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7303859	1.00[EUR][1000 genomes]
rs73322739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73322755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73324839	1.00[EUR][1000 genomes]
rs73324848	1.00[EUR][1000 genomes]
rs73324851	1.00[EUR][1000 genomes]
rs73324853	1.00[EUR][1000 genomes]
rs73324861	1.00[EUR][1000 genomes]
rs74099863	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955966	1.00[EUR][1000 genomes]
rs7962113	1.00[EUR][1000 genomes]
rs7964651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977996	1.00[EUR][1000 genomes]
rs7980788	1.00[EUR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1047675	chr12:68303674-68337325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68302600-68310000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:68305400-68310000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:68305400-68310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:68305600-68310000	Weak transcription	Psoas Muscle	Psoas
5	chr12:68305600-68312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:68305600-68312400	Weak transcription	HMEC	breast
7	chr12:68305600-68313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:68305800-68309800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:68305800-68311400	Weak transcription	NHDF-Ad	bronchial
10	chr12:68305800-68312600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:68306000-68310200	Weak transcription	HSMM	muscle
12	chr12:68306600-68310200	Weak transcription	HSMMtube	muscle
13	chr12:68307000-68309800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:68307200-68310000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:68307400-68310000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:68307600-68318800	Weak transcription	Fetal Heart	heart
17	chr12:68307800-68310000	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:68308200-68309000	Enhancers	NHEK	skin

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