Variant report

Variant	rs73116780
Chromosome Location	chr12:41213365-41213366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs57874154	1.00[AFR][1000 genomes]
rs58093662	1.00[AFR][1000 genomes]
rs58649501	1.00[AFR][1000 genomes]
rs60171128	1.00[AFR][1000 genomes]
rs60729624	1.00[AFR][1000 genomes]
rs61381793	0.94[AFR][1000 genomes]
rs66467974	0.81[AFR][1000 genomes]
rs73114703	0.94[AFR][1000 genomes]
rs73114704	0.94[AFR][1000 genomes]
rs73114707	0.97[AFR][1000 genomes]
rs73114713	0.97[AFR][1000 genomes]
rs73114715	1.00[AFR][1000 genomes]
rs73114717	1.00[AFR][1000 genomes]
rs73114719	1.00[AFR][1000 genomes]
rs73114720	1.00[AFR][1000 genomes]
rs73114722	1.00[AFR][1000 genomes]
rs73114723	1.00[AFR][1000 genomes]
rs73114724	1.00[AFR][1000 genomes]
rs73114725	0.90[AFR][1000 genomes]
rs73114727	1.00[AFR][1000 genomes]
rs73114729	1.00[AFR][1000 genomes]
rs73114731	1.00[AFR][1000 genomes]
rs73116746	1.00[AFR][1000 genomes]
rs73116747	1.00[AFR][1000 genomes]
rs73116774	1.00[AFR][1000 genomes]
rs73116785	1.00[AFR][1000 genomes]
rs73116786	1.00[AFR][1000 genomes]
rs73116787	1.00[AFR][1000 genomes]
rs73116791	1.00[AFR][1000 genomes]
rs73116793	1.00[AFR][1000 genomes]
rs73116794	1.00[AFR][1000 genomes]
rs73116796	1.00[AFR][1000 genomes]
rs73116798	1.00[AFR][1000 genomes]
rs73116800	1.00[AFR][1000 genomes]
rs73116801	0.83[AFR][1000 genomes]
rs73116802	1.00[AFR][1000 genomes]
rs73118713	1.00[AFR][1000 genomes]
rs73118714	1.00[AFR][1000 genomes]
rs73118715	1.00[AFR][1000 genomes]
rs73118716	1.00[AFR][1000 genomes]
rs73118717	1.00[AFR][1000 genomes]
rs73118719	1.00[AFR][1000 genomes]
rs73118720	1.00[AFR][1000 genomes]
rs73118723	1.00[AFR][1000 genomes]
rs73118726	0.83[AFR][1000 genomes]
rs73118729	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832379	chr12:41054440-41232749	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv469363	chr12:41155000-41214848	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv558698	chr12:41155000-41214848	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3435443	chr12:41206734-41222972	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41211400-41213600	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:41211400-41214200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:41211600-41214400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:41212400-41214200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:41212600-41213800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:41212800-41213400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:41212800-41213400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:41212800-41213400	Enhancers	Aorta	Aorta
9	chr12:41212800-41213800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:41212800-41214000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr12:41212800-41214000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:41212800-41214000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:41212800-41214200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:41212800-41214200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:41212800-41214400	Enhancers	Fetal Stomach	stomach
16	chr12:41213000-41213400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:41213000-41213400	Enhancers	Brain Germinal Matrix	brain
18	chr12:41213000-41213400	Enhancers	Spleen	Spleen
19	chr12:41213000-41213600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:41213000-41213800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:41213000-41213800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:41213000-41213800	Enhancers	Fetal Muscle Trunk	muscle
23	chr12:41213000-41214000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:41213000-41214000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:41213000-41214000	Enhancers	A549	lung
26	chr12:41213000-41214000	Enhancers	NHEK	skin
27	chr12:41213000-41214400	Enhancers	Fetal Muscle Leg	muscle
28	chr12:41213200-41213600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:41213200-41213600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:41213200-41213800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:41213200-41213800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:41213200-41213800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr12:41213200-41213800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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