Variant report

Variant	rs61702904
Chromosome Location	chr12:48033252-48033253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10492007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122136	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122138	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2100808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36123489	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4348981	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4550297	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56915320	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56967344	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57671593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58292976	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58702884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59702452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60739072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298221	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7311790	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315257	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298689	0.87[AMR][1000 genomes]
rs73300611	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73300632	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300653	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300658	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73300663	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300666	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300680	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs748306	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962695	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964752	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
2	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
3	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
5	chr12:48008600-48033400	Weak transcription	Pancreas	Pancrea
6	chr12:48009800-48036200	Weak transcription	Ovary	ovary
7	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:48016000-48044400	Weak transcription	NH-A	brain
9	chr12:48018000-48036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:48023600-48044800	Weak transcription	Gastric	stomach
11	chr12:48025200-48036000	Weak transcription	Fetal Lung	lung
12	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
13	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:48030800-48035200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:48030800-48042000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
18	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:48031400-48033600	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr12:48031400-48038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:48031400-48042000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:48031400-48042000	Weak transcription	K562	blood
24	chr12:48031400-48044600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:48031400-48046200	Weak transcription	Fetal Stomach	stomach
26	chr12:48031400-48058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:48031600-48036400	Weak transcription	A549	lung
28	chr12:48031600-48044000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:48031600-48044600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:48032200-48036200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:48032200-48045800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:48032800-48034000	Weak transcription	Primary T cells from cord blood	blood
33	chr12:48032800-48036000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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