Variant report

Variant	rs12753280
Chromosome Location	chr1:93016228-93016229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs1034219	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10465754	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10465756	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10735778	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10735779	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10735783	0.82[ASN][1000 genomes]
rs10735784	0.82[ASN][1000 genomes]
rs10747444	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10747445	0.82[ASN][1000 genomes]
rs10782922	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10782935	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874656	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10874712	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10874715	0.82[ASN][1000 genomes]
rs10874716	0.82[ASN][1000 genomes]
rs10874721	0.82[ASN][1000 genomes]
rs11164605	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11164654	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11164770	0.84[EUR][1000 genomes]
rs11164773	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164778	0.82[ASN][1000 genomes]
rs11164799	0.82[ASN][1000 genomes]
rs11164805	0.82[ASN][1000 genomes]
rs11164806	0.82[ASN][1000 genomes]
rs11164808	0.82[ASN][1000 genomes]
rs11164809	0.82[ASN][1000 genomes]
rs1182640	0.82[ASN][1000 genomes]
rs12045019	0.82[ASN][1000 genomes]
rs12046739	0.82[ASN][1000 genomes]
rs1337108	0.82[ASN][1000 genomes]
rs1337109	0.82[ASN][1000 genomes]
rs1408916	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1537498	0.82[ASN][1000 genomes]
rs1556562	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1556563	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1570836	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1570837	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17579779	0.83[EUR][1000 genomes]
rs1886682	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1886683	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1932967	0.82[ASN][1000 genomes]
rs2008797	0.82[ASN][1000 genomes]
rs2025101	0.82[ASN][1000 genomes]
rs2027059	0.82[ASN][1000 genomes]
rs2027060	0.82[ASN][1000 genomes]
rs2031494	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2039451	0.82[ASN][1000 genomes]
rs2039452	0.82[ASN][1000 genomes]
rs2039453	0.82[ASN][1000 genomes]
rs2050597	0.82[ASN][1000 genomes]
rs2077529	0.82[ASN][1000 genomes]
rs2095265	0.82[ASN][1000 genomes]
rs2095266	0.82[ASN][1000 genomes]
rs2095267	0.82[ASN][1000 genomes]
rs2095268	0.82[ASN][1000 genomes]
rs2107520	0.82[ASN][1000 genomes]
rs2107521	0.82[ASN][1000 genomes]
rs2151577	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2158446	0.82[ASN][1000 genomes]
rs2180977	0.82[ASN][1000 genomes]
rs2184193	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2298912	0.82[ASN][1000 genomes]
rs2391159	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2391160	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2391164	0.82[ASN][1000 genomes]
rs2391194	0.82[ASN][1000 genomes]
rs2391196	0.82[ASN][1000 genomes]
rs2893217	0.82[ASN][1000 genomes]
rs35054144	0.82[ASN][1000 genomes]
rs3790445	0.82[ASN][1000 genomes]
rs3790446	0.82[ASN][1000 genomes]
rs3898498	0.82[ASN][1000 genomes]
rs3898499	0.82[ASN][1000 genomes]
rs3928821	0.82[ASN][1000 genomes]
rs4264007	0.82[ASN][1000 genomes]
rs4375281	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4525050	0.82[ASN][1000 genomes]
rs4568842	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4638137	0.82[ASN][1000 genomes]
rs4847181	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4847232	0.82[ASN][1000 genomes]
rs4847280	0.82[ASN][1000 genomes]
rs4847285	0.82[ASN][1000 genomes]
rs4847304	0.82[ASN][1000 genomes]
rs4847305	0.82[ASN][1000 genomes]
rs4847309	0.82[ASN][1000 genomes]
rs4847327	0.82[ASN][1000 genomes]
rs4847377	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4847400	0.82[ASN][1000 genomes]
rs4970696	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4970698	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4970701	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4970705	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4970706	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4970708	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4970709	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4970710	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4970712	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59679370	0.83[EUR][1000 genomes]
rs6422512	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6422513	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6422514	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6422515	0.82[ASN][1000 genomes]
rs6603975	0.89[EUR][1000 genomes]
rs6603979	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6603980	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6603981	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603982	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603984	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603985	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603987	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603988	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603990	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6603993	0.82[ASN][1000 genomes]
rs6603994	0.82[ASN][1000 genomes]
rs6603999	0.82[ASN][1000 genomes]
rs6604010	0.82[ASN][1000 genomes]
rs6604015	0.82[ASN][1000 genomes]
rs6604022	0.82[ASN][1000 genomes]
rs6656432	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6660296	0.82[ASN][1000 genomes]
rs6661134	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6661600	0.82[ASN][1000 genomes]
rs6665121	0.82[ASN][1000 genomes]
rs6665579	0.82[ASN][1000 genomes]
rs6668584	0.82[ASN][1000 genomes]
rs6669914	0.82[ASN][1000 genomes]
rs6671114	0.82[ASN][1000 genomes]
rs6675246	0.82[ASN][1000 genomes]
rs6676454	0.82[ASN][1000 genomes]
rs6676846	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6678864	0.82[ASN][1000 genomes]
rs6686702	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6690764	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6691038	0.82[ASN][1000 genomes]
rs6692187	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6696173	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6696636	0.82[ASN][1000 genomes]
rs6701130	0.82[ASN][1000 genomes]
rs723909	0.82[ASN][1000 genomes]
rs7513815	0.82[ASN][1000 genomes]
rs7514716	0.82[ASN][1000 genomes]
rs7515577	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7515866	0.82[ASN][1000 genomes]
rs7516141	0.82[ASN][1000 genomes]
rs7518357	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7521345	0.82[ASN][1000 genomes]
rs7526582	0.82[ASN][1000 genomes]
rs7536295	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7543327	0.82[ASN][1000 genomes]
rs7545318	0.82[ASN][1000 genomes]
rs7549844	0.82[ASN][1000 genomes]
rs7552085	0.82[ASN][1000 genomes]
rs7553367	0.82[ASN][1000 genomes]
rs7554183	0.82[ASN][1000 genomes]
rs7554868	0.82[ASN][1000 genomes]
rs7556243	0.82[ASN][1000 genomes]
rs757469	0.82[ASN][1000 genomes]
rs912795	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs914966	0.82[ASN][1000 genomes]
rs9439920	0.82[ASN][1000 genomes]
rs962221	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs962222	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs963043	0.82[ASN][1000 genomes]
rs963044	0.82[ASN][1000 genomes]
rs9633481	0.82[ASN][1000 genomes]
rs9651256	0.82[ASN][1000 genomes]
rs9699810	0.82[ASN][1000 genomes]
rs976208	0.82[ASN][1000 genomes]
rs976209	0.82[ASN][1000 genomes]
rs980940	0.82[ASN][1000 genomes]
rs989653	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
3	chr1:92981800-93033400	Weak transcription	NHEK	skin
4	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
6	chr1:92999400-93016600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:93001400-93024200	Weak transcription	Psoas Muscle	Psoas
8	chr1:93004400-93022200	Weak transcription	Pancreas	Pancrea
9	chr1:93004400-93028400	Weak transcription	Primary B cells from cord blood	blood
10	chr1:93004400-93032400	Weak transcription	Fetal Intestine Small	intestine
11	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:93005000-93021600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:93007400-93021400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:93009600-93017200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:93009600-93023800	Weak transcription	Liver	Liver
20	chr1:93009800-93028200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:93009800-93029200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
23	chr1:93014400-93023200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart

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