Variant report

Variant	rs12298992
Chromosome Location	chr12:106426139-106426140
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106424440..106427455-chr12:106530238..106534558,3	MCF-7	breast:
2	chr12:106425864..106426522-chr12:106529759..106530547,2	MCF-7	breast:
3	chr12:106410464..106412733-chr12:106425664..106427540,2	MCF-7	breast:
4	chr12:106424925..106427574-chr12:106428268..106430094,2	MCF-7	breast:
5	chr12:106425693..106426528-chr12:106617651..106618496,2	MCF-7	breast:
6	chr12:106425879..106426591-chr12:106529828..106530360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11112835	0.97[EUR][1000 genomes]
rs11112839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112841	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11112847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12367590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12369224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7139046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7298311	0.97[EUR][1000 genomes]
rs7313912	0.97[EUR][1000 genomes]
rs73192179	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73193807	0.94[EUR][1000 genomes]
rs73193813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv871	chr12:106407516-106429806	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106415800-106456400	Weak transcription	Aorta	Aorta
2	chr12:106421400-106427000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106421800-106436000	Weak transcription	Fetal Brain Male	brain
4	chr12:106422800-106427600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:106423000-106427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:106424000-106427600	Enhancers	Placenta	Placenta
7	chr12:106424400-106427000	Weak transcription	Liver	Liver
8	chr12:106424800-106426600	Enhancers	NHEK	skin
9	chr12:106424800-106427400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:106424800-106427600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:106424800-106427600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:106424800-106428200	Enhancers	HSMM	muscle
13	chr12:106424800-106428400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:106425000-106426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:106425000-106426400	Weak transcription	Fetal Heart	heart
16	chr12:106425000-106426600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:106425000-106427200	Enhancers	Hela-S3	cervix
18	chr12:106425000-106429400	Weak transcription	Fetal Lung	lung
19	chr12:106425200-106426800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:106425200-106427000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:106425200-106427000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:106425200-106427200	Enhancers	NH-A	brain
23	chr12:106425200-106427400	Enhancers	Osteobl	bone
24	chr12:106425200-106427600	Enhancers	A549	lung
25	chr12:106425200-106428000	Enhancers	HSMMtube	muscle
26	chr12:106425800-106426800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106425800-106426800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:106425800-106427800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr12:106426000-106427400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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