Variant report

Variant	rs73111220
Chromosome Location	chr12:47972547-47972548
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	chr12:47969970..47972142-chr12:47972144..47974115,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12422974	0.82[AMR][1000 genomes]
rs12423789	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12426347	0.82[AMR][1000 genomes]
rs12426387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12426849	0.82[AMR][1000 genomes]
rs2020962	0.94[AMR][1000 genomes]
rs35044089	0.94[AMR][1000 genomes]
rs73102120	0.82[AMR][1000 genomes]
rs73102125	0.82[AMR][1000 genomes]
rs73102127	0.82[AMR][1000 genomes]
rs73102140	0.82[AMR][1000 genomes]
rs73102148	0.82[AMR][1000 genomes]
rs73102151	0.82[AMR][1000 genomes]
rs73111210	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111212	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111216	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111217	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73111229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111231	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73111258	0.94[AMR][1000 genomes]
rs73113117	0.94[AMR][1000 genomes]
rs73113139	0.94[AMR][1000 genomes]
rs73113143	0.94[AMR][1000 genomes]
rs73113159	0.94[AMR][1000 genomes]
rs73113161	0.94[AMR][1000 genomes]
rs7954764	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv899056	chr12:47940764-48012390	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558787	chr12:47945797-47981313	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv558788	chr12:47945797-48012390	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv899057	chr12:47947551-48012390	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr12:47969200-47972600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:47969400-47974400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:47970400-47973400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:47970600-47974000	Weak transcription	Ovary	ovary
5	chr12:47971400-47978000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:47971600-47973000	Enhancers	Fetal Lung	lung
7	chr12:47971600-47978000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:47971800-47973600	Enhancers	Fetal Muscle Leg	muscle
9	chr12:47972000-47975200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:47972400-47972600	Bivalent Enhancer	HSMMtube	muscle
11	chr12:47972400-47973400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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