Variant report

Variant	rs2142981
Chromosome Location	chr6:146071695-146071696
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146053890..146058201-chr6:146071369..146074205,4	K562	blood:
2	chr6:146071292..146072870-chr6:146131842..146134542,2	K562	blood:
3	chr6:146071338..146074051-chr6:146075852..146079781,4	K562	blood:
4	chr6:146055188..146058502-chr6:146065186..146072580,11	MCF-7	breast:
5	chr6:146071196..146072831-chr6:146275879..146277935,2	K562	blood:

Variant related genes	Relation type
ENSG00000146414	Chromatin interaction
ENSG00000112425	Chromatin interaction
ENSG00000270828	Chromatin interaction
ENSG00000270638	Chromatin interaction

Extended variants
information (count: 196 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:195)

rs_ID	r²[population]
rs1004752	0.90[EUR][1000 genomes]
rs1011596	0.95[EUR][1000 genomes]
rs1011597	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10214925	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10447449	0.98[EUR][1000 genomes]
rs1045820	0.81[EUR][1000 genomes]
rs1055212	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1062068	0.81[ASN][1000 genomes]
rs1070517	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1070519	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1070520	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10872579	0.81[EUR][1000 genomes]
rs10872580	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11155435	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11155438	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11155442	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11965018	0.92[EUR][1000 genomes]
rs12190966	0.97[EUR][1000 genomes]
rs12199362	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12208019	0.80[ASN][1000 genomes]
rs1292333	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1292334	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1292336	0.81[EUR][1000 genomes]
rs1292337	0.81[EUR][1000 genomes]
rs13214277	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1337839	0.89[EUR][1000 genomes]
rs1337840	0.83[EUR][1000 genomes]
rs1337841	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13437042	0.95[EUR][1000 genomes]
rs1415744	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1415746	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1415747	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569540	0.93[EUR][1000 genomes]
rs1577916	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1832362	0.95[EUR][1000 genomes]
rs1883365	0.95[EUR][1000 genomes]
rs1890170	0.80[ASN][1000 genomes]
rs1890171	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1986729	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2050027	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2064185	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2072911	0.86[EUR][1000 genomes]
rs2092262	0.81[EUR][1000 genomes]
rs2092263	0.90[EUR][1000 genomes]
rs2096201	0.80[ASN][1000 genomes]
rs2142983	0.93[EUR][1000 genomes]
rs2179323	0.81[EUR][1000 genomes]
rs2235482	0.83[EUR][1000 genomes]
rs2246334	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2249147	0.95[EUR][1000 genomes]
rs2249386	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253194	0.90[EUR][1000 genomes]
rs2253307	0.90[EUR][1000 genomes]
rs2253654	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2253764	0.89[EUR][1000 genomes]
rs2253768	0.89[EUR][1000 genomes]
rs2253880	0.89[EUR][1000 genomes]
rs2253886	0.88[EUR][1000 genomes]
rs2253887	0.86[EUR][1000 genomes]
rs2254257	0.81[ASN][1000 genomes]
rs2265474	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2265915	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2265916	0.95[EUR][1000 genomes]
rs2328707	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2328709	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2485632	0.93[EUR][1000 genomes]
rs2814879	0.89[EUR][1000 genomes]
rs3811102	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4455694	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4895683	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4895684	0.94[EUR][1000 genomes]
rs4896832	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4896833	0.81[EUR][1000 genomes]
rs4896837	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4896838	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4896839	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4896841	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4896842	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4896843	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4896844	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55810423	0.82[EUR][1000 genomes]
rs57700188	0.84[EUR][1000 genomes]
rs62433835	0.81[EUR][1000 genomes]
rs62435810	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6570701	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6570703	0.81[EUR][1000 genomes]
rs6570705	0.81[EUR][1000 genomes]
rs6570706	0.81[EUR][1000 genomes]
rs6570708	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6570713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6570715	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6570716	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6570717	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6570719	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6570723	0.95[EUR][1000 genomes]
rs6570724	0.95[EUR][1000 genomes]
rs6901888	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6902913	0.94[EUR][1000 genomes]
rs6906258	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6906402	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6915718	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6917135	0.95[EUR][1000 genomes]
rs6921073	0.97[EUR][1000 genomes]
rs6923678	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6928007	0.95[EUR][1000 genomes]
rs6930154	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6931553	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6932863	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6933161	0.95[EUR][1000 genomes]
rs6937661	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6941429	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs697053	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs697054	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs697055	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs697056	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs702304	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs702305	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs702306	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs702307	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs702309	0.84[EUR][1000 genomes]
rs702314	0.88[EUR][1000 genomes]
rs702317	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs702318	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs702319	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs702320	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs702321	0.89[EUR][1000 genomes]
rs702323	0.89[EUR][1000 genomes]
rs702324	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs735535	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs735536	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7739735	0.94[EUR][1000 genomes]
rs7740785	0.86[EUR][1000 genomes]
rs7742333	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7744014	0.94[EUR][1000 genomes]
rs7745696	0.95[EUR][1000 genomes]
rs7752286	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7753770	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7753833	0.87[EUR][1000 genomes]
rs7762562	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7772717	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs857875	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs857877	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs857879	0.81[EUR][1000 genomes]
rs857880	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs857881	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs857882	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs857883	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs864148	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9373471	0.85[EUR][1000 genomes]
rs9373473	0.86[EUR][1000 genomes]
rs9373475	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9373476	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9376956	0.80[EUR][1000 genomes]
rs9376957	0.89[EUR][1000 genomes]
rs9376961	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9376968	0.95[EUR][1000 genomes]
rs9386128	0.92[EUR][1000 genomes]
rs9386131	0.94[EUR][1000 genomes]
rs9386132	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386133	0.98[EUR][1000 genomes]
rs9386134	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390348	0.85[EUR][1000 genomes]
rs9390349	0.92[EUR][1000 genomes]
rs9390354	0.94[EUR][1000 genomes]
rs9390355	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9390356	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390357	0.90[EUR][1000 genomes]
rs9390358	0.97[EUR][1000 genomes]
rs9399559	0.81[EUR][1000 genomes]
rs9399561	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9399564	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399565	0.95[EUR][1000 genomes]
rs9399567	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9403734	0.80[ASN][1000 genomes]
rs9403735	0.80[ASN][1000 genomes]
rs9403737	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9403739	0.89[EUR][1000 genomes]
rs9403741	0.90[EUR][1000 genomes]
rs9403742	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9403746	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9403747	0.94[EUR][1000 genomes]
rs9403749	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403750	0.94[EUR][1000 genomes]
rs9485018	0.89[EUR][1000 genomes]
rs9485019	0.92[EUR][1000 genomes]
rs9485021	0.92[EUR][1000 genomes]
rs9485024	0.98[EUR][1000 genomes]
rs9497380	0.81[EUR][1000 genomes]
rs9497395	0.88[EUR][1000 genomes]
rs9497396	0.89[EUR][1000 genomes]
rs9497398	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9497401	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9497406	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9497419	0.98[EUR][1000 genomes]
rs991507	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2142981	RP11-545I5.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146067400-146076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:146067600-146076600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:146070400-146071800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:146070800-146071800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:146071200-146073800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:146071200-146074200	Weak transcription	HUVEC	blood vessel
7	chr6:146071200-146076400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:146071200-146076400	Weak transcription	HMEC	breast
9	chr6:146071200-146076400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:146071200-146076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:146071400-146073800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:146071400-146076600	Weak transcription	NHDF-Ad	bronchial
13	chr6:146071400-146076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:146071400-146076800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:146071400-146077000	Weak transcription	HSMM	muscle
16	chr6:146071600-146076400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:146071600-146076400	Weak transcription	NHEK	skin
18	chr6:146071600-146076800	Weak transcription	NHLF	lung

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