Variant report

Variant	rs2391159
Chromosome Location	chr1:92971951-92971952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92970721..92973129-chr1:92975876..92977774,2	K562	blood:
2	chr1:92971064..92972652-chr1:92984833..92987598,2	MCF-7	breast:

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1034219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465754	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10465756	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10735778	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10735783	0.89[ASN][1000 genomes]
rs10735784	0.89[ASN][1000 genomes]
rs10747444	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10747445	0.89[ASN][1000 genomes]
rs10782922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10874656	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874712	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10874715	0.89[ASN][1000 genomes]
rs10874716	0.89[ASN][1000 genomes]
rs10874721	0.89[ASN][1000 genomes]
rs11164605	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164654	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11164770	0.85[EUR][1000 genomes]
rs11164773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11164778	0.89[ASN][1000 genomes]
rs11164780	0.85[ASN][1000 genomes]
rs11164799	0.89[ASN][1000 genomes]
rs12046739	0.89[ASN][1000 genomes]
rs12753280	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1337109	0.89[ASN][1000 genomes]
rs1408916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537498	0.89[ASN][1000 genomes]
rs1556562	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1556563	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1570836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570837	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17579779	0.90[EUR][1000 genomes]
rs1886682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1932967	0.89[ASN][1000 genomes]
rs2008797	0.89[ASN][1000 genomes]
rs2025607	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2027059	0.89[ASN][1000 genomes]
rs2027060	0.89[ASN][1000 genomes]
rs2031494	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039451	0.89[ASN][1000 genomes]
rs2039452	0.89[ASN][1000 genomes]
rs2039453	0.89[ASN][1000 genomes]
rs2050597	0.89[ASN][1000 genomes]
rs2077529	0.89[ASN][1000 genomes]
rs2095265	0.89[ASN][1000 genomes]
rs2095266	0.89[ASN][1000 genomes]
rs2095267	0.89[ASN][1000 genomes]
rs2095268	0.89[ASN][1000 genomes]
rs2107520	0.89[ASN][1000 genomes]
rs2107521	0.89[ASN][1000 genomes]
rs2151577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2180977	0.89[ASN][1000 genomes]
rs2184193	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2391160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2391164	0.89[ASN][1000 genomes]
rs2391196	0.89[ASN][1000 genomes]
rs2893217	0.89[ASN][1000 genomes]
rs3790446	0.89[ASN][1000 genomes]
rs3898498	0.89[ASN][1000 genomes]
rs3898499	0.89[ASN][1000 genomes]
rs3928821	0.89[ASN][1000 genomes]
rs4264007	0.89[ASN][1000 genomes]
rs4375281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568842	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847181	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847232	0.89[ASN][1000 genomes]
rs4847234	0.85[ASN][1000 genomes]
rs4847280	0.89[ASN][1000 genomes]
rs4847285	0.89[ASN][1000 genomes]
rs4847305	0.89[ASN][1000 genomes]
rs4847327	0.89[ASN][1000 genomes]
rs4847377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4847400	0.89[ASN][1000 genomes]
rs4970696	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970698	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970700	0.81[AFR][1000 genomes]
rs4970701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4970705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970708	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59679370	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6422512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422513	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6422514	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6422515	0.89[ASN][1000 genomes]
rs6603975	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6603979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603980	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6603981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603982	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603984	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603985	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603987	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603988	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603990	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603993	0.89[ASN][1000 genomes]
rs6603994	0.89[ASN][1000 genomes]
rs6603999	0.89[ASN][1000 genomes]
rs6604010	0.89[ASN][1000 genomes]
rs6604012	0.85[ASN][1000 genomes]
rs6656432	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661134	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6661600	0.89[ASN][1000 genomes]
rs6665579	0.89[ASN][1000 genomes]
rs6668584	0.89[ASN][1000 genomes]
rs6669914	0.89[ASN][1000 genomes]
rs6671114	0.89[ASN][1000 genomes]
rs6675246	0.89[ASN][1000 genomes]
rs6676141	0.84[EUR][1000 genomes]
rs6676846	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678864	0.89[ASN][1000 genomes]
rs6686702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6690764	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691038	0.89[ASN][1000 genomes]
rs6692187	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6696173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6701130	0.89[ASN][1000 genomes]
rs6704249	0.85[ASN][1000 genomes]
rs723909	0.89[ASN][1000 genomes]
rs7514716	0.89[ASN][1000 genomes]
rs7515577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7515866	0.89[ASN][1000 genomes]
rs7516141	0.89[ASN][1000 genomes]
rs7518357	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7521345	0.89[ASN][1000 genomes]
rs7526582	0.89[ASN][1000 genomes]
rs7536295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545318	0.89[ASN][1000 genomes]
rs7549844	0.89[ASN][1000 genomes]
rs7552212	0.83[EUR][1000 genomes]
rs7553367	0.89[ASN][1000 genomes]
rs7556243	0.89[ASN][1000 genomes]
rs757469	0.89[ASN][1000 genomes]
rs912795	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs914966	0.89[ASN][1000 genomes]
rs9439920	0.89[ASN][1000 genomes]
rs962221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963043	0.89[ASN][1000 genomes]
rs963044	0.89[ASN][1000 genomes]
rs9633481	0.89[ASN][1000 genomes]
rs9651256	0.89[ASN][1000 genomes]
rs9661812	0.81[ASN][1000 genomes]
rs9699810	0.89[ASN][1000 genomes]
rs976208	0.89[ASN][1000 genomes]
rs976209	0.89[ASN][1000 genomes]
rs989653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92978400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:92968200-92975200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:92968200-92977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:92968200-93042800	Weak transcription	HSMM	muscle
7	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:92969400-92979800	Weak transcription	HSMMtube	muscle
9	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:92969800-92996800	Weak transcription	NH-A	brain
12	chr1:92970000-92972000	Weak transcription	Spleen	Spleen
13	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:92970600-92981800	Weak transcription	Primary B cells from cord blood	blood
15	chr1:92970800-92977200	Weak transcription	GM12878-XiMat	blood
16	chr1:92970800-92978800	Weak transcription	Placenta	Placenta
17	chr1:92971400-92972000	Enhancers	Dnd41	blood
18	chr1:92971400-92972200	Enhancers	HepG2	liver
19	chr1:92971400-92978600	Weak transcription	Liver	Liver
20	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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