Variant report

Variant	rs10930984
Chromosome Location	chr2:153100180-153100181
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10182046	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10194916	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10200231	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10497098	0.81[AMR][1000 genomes]
rs10930988	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683326	0.90[EUR][1000 genomes]
rs11684002	0.85[EUR][1000 genomes]
rs11684622	0.83[EUR][1000 genomes]
rs11685937	0.89[ASN][1000 genomes]
rs11695538	0.83[EUR][1000 genomes]
rs12474885	0.81[AMR][1000 genomes]
rs12479199	0.81[AMR][1000 genomes]
rs12994907	0.84[AMR][1000 genomes]
rs12999722	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13023172	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13025274	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13027360	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13030148	0.84[ASN][1000 genomes]
rs16823676	0.81[AMR][1000 genomes]
rs17398246	0.83[EUR][1000 genomes]
rs17398253	0.83[EUR][1000 genomes]
rs17398399	0.85[EUR][1000 genomes]
rs1987371	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2345644	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345646	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345816	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345886	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345887	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345888	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345889	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345890	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2345891	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345892	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345893	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345897	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2345900	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881237	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2881238	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2881242	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35451141	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4233656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233657	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4284784	0.86[EUR][1000 genomes]
rs4293527	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4316898	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664090	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664092	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664548	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4664549	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664552	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664556	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4664558	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56853020	0.93[EUR][1000 genomes]
rs60098187	0.86[EUR][1000 genomes]
rs60847003	0.86[EUR][1000 genomes]
rs6433898	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6433929	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433933	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433935	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6433940	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66529470	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66673544	0.82[EUR][1000 genomes]
rs66733611	0.86[EUR][1000 genomes]
rs6712158	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67135983	0.89[EUR][1000 genomes]
rs67157738	0.91[EUR][1000 genomes]
rs6726065	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6729673	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6745311	0.82[EUR][1000 genomes]
rs6747394	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750417	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6750670	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67874818	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68008008	0.91[EUR][1000 genomes]
rs68036808	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72857737	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72864740	0.85[EUR][1000 genomes]
rs72864741	0.85[EUR][1000 genomes]
rs72864754	0.91[EUR][1000 genomes]
rs72864765	0.84[EUR][1000 genomes]
rs73002815	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7355335	0.81[AMR][1000 genomes]
rs7570050	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579128	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7579212	0.84[AMR][1000 genomes]
rs7584558	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586518	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7596540	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597103	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7600346	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9750400	0.81[EUR][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	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1004308	chr2:152980087-153154534	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv535985	chr2:152980087-153154534	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153096600-153101000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:153096800-153101000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:153097000-153100400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:153097000-153100800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:153097200-153101000	Enhancers	HMEC	breast
6	chr2:153097400-153102600	Weak transcription	Fetal Lung	lung
7	chr2:153098800-153100200	Weak transcription	Ovary	ovary
8	chr2:153099000-153100200	Enhancers	HepG2	liver
9	chr2:153099000-153100200	Enhancers	NHEK	skin
10	chr2:153099000-153100800	Enhancers	Placenta	Placenta
11	chr2:153099000-153101000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153099400-153100600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:153099400-153101000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:153099400-153102200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:153099600-153100400	Enhancers	Right Atrium	heart
16	chr2:153099600-153101000	Enhancers	Adipose Nuclei	Adipose
17	chr2:153099800-153100200	Enhancers	Brain Hippocampus Middle	brain
18	chr2:153099800-153100600	Weak transcription	Left Ventricle	heart
19	chr2:153099800-153100800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:153099800-153101000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:153100000-153100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:153100000-153100800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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