Variant report

Variant	rs7561059
Chromosome Location	chr2:178778643-178778644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178773541..178777699-chr2:178778519..178781907,4	K562	blood:
2	chr2:178775340..178778251-chr2:178778519..178782128,3	K562	blood:
3	chr2:178771023..178773697-chr2:178777397..178779735,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10164920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10165089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10168605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10171247	0.88[CEU][hapmap]
rs10171486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10174066	0.88[CEU][hapmap]
rs10174604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180052	1.00[CEU][hapmap]
rs10181377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182833	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189134	0.87[CEU][hapmap]
rs10190066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10190805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10191328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10192990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10195497	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197020	1.00[CEU][hapmap]
rs10198681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200643	0.88[CEU][hapmap]
rs10202989	0.88[CEU][hapmap]
rs10207459	1.00[CEU][hapmap]
rs10208501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10211057	1.00[CEU][hapmap]
rs10211341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10221783	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10221806	0.88[CEU][hapmap]
rs10497477	0.87[CEU][hapmap]
rs10497478	0.88[CEU][hapmap]
rs10497481	0.88[CEU][hapmap]
rs10497483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930819	0.88[CEU][hapmap]
rs12151755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693145	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693147	1.00[CEU][hapmap]
rs12988331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990471	0.87[CEU][hapmap]
rs12994913	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12995449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003683	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13008170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13008780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13015148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017026	0.87[CEU][hapmap]
rs13021204	0.88[CEU][hapmap]
rs13023049	1.00[CEU][hapmap]
rs13026481	0.88[CEU][hapmap]
rs13028692	0.88[CEU][hapmap]
rs13386418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13386639	0.88[CEU][hapmap]
rs13389574	0.88[CEU][hapmap]
rs13392577	0.88[CEU][hapmap]
rs13396207	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13400109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13400411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13402629	0.87[CEU][hapmap]
rs13402636	0.88[CEU][hapmap]
rs13405585	0.88[CEU][hapmap]
rs13410185	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410486	0.87[CEU][hapmap]
rs13411527	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13411542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13411922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13411970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13413095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13413731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13419437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13422706	1.00[CEU][hapmap]
rs13425873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13426862	0.85[CEU][hapmap]
rs13427912	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429445	0.88[CEU][hapmap]
rs1358299	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1527291	1.00[JPT][hapmap]
rs16865821	1.00[JPT][hapmap]
rs16865846	1.00[JPT][hapmap]
rs17329742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17329956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17329998	0.88[CEU][hapmap]
rs17330012	0.88[CEU][hapmap]
rs17330172	0.88[CEU][hapmap]
rs17330290	0.88[CEU][hapmap]
rs17330381	0.88[CEU][hapmap]
rs17401293	1.00[CEU][hapmap]
rs17401468	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17401650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401860	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17401902	0.87[CEU][hapmap]
rs17401916	0.87[CEU][hapmap]
rs17401951	1.00[CEU][hapmap]
rs17402102	0.88[CEU][hapmap]
rs17635803	0.88[CEU][hapmap]
rs17635875	1.00[CEU][hapmap]
rs17635957	0.88[CEU][hapmap]
rs17687170	0.88[CEU][hapmap]
rs17687217	1.00[CEU][hapmap]
rs1898012	1.00[JPT][hapmap]
rs2043548	0.88[CEU][hapmap]
rs35267683	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35385829	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35625771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35758079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861373	0.88[CEU][hapmap]
rs4377360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4423634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6708449	1.00[JPT][hapmap]
rs6726477	1.00[CEU][hapmap]
rs6738614	0.87[CEU][hapmap]
rs6750238	1.00[JPT][hapmap]
rs71423515	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423518	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575322	0.88[CEU][hapmap]
rs7600368	1.00[CEU][hapmap]
rs9288011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3391754	chr2:178778598-178779060	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
2	chr2:178777600-178781200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:178778200-178780400	Enhancers	Skeletal Muscle Male	skeletal muscle

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