Variant report

Variant	rs2084839
Chromosome Location	chr15:83752159-83752160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:83748502..83753073-chr15:83753716..83757836,7	K562	blood:
2	chr15:83681680..83683853-chr15:83750233..83753153,2	MCF-7	breast:
3	chr15:83734652..83738464-chr15:83750804..83754380,5	K562	blood:

Variant related genes	Relation type
ENSG00000263643	Chromatin interaction
ENSG00000064726	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10400812	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10520576	0.80[ASN][1000 genomes]
rs11852496	0.80[ASN][1000 genomes]
rs11853742	0.85[ASN][1000 genomes]
rs11858074	0.83[ASN][1000 genomes]
rs12438398	0.80[ASN][1000 genomes]
rs12439782	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12439903	0.80[ASN][1000 genomes]
rs12440386	0.80[ASN][1000 genomes]
rs12441585	0.80[ASN][1000 genomes]
rs12592391	0.83[ASN][1000 genomes]
rs12593316	0.94[ASN][1000 genomes]
rs12899522	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12900411	0.83[ASN][1000 genomes]
rs12901811	0.83[ASN][1000 genomes]
rs12902721	0.89[ASN][1000 genomes]
rs12903066	0.83[ASN][1000 genomes]
rs12904695	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12906027	0.83[ASN][1000 genomes]
rs12906626	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12907032	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12911706	0.83[ASN][1000 genomes]
rs12911891	0.83[ASN][1000 genomes]
rs12913130	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12917594	0.85[ASN][1000 genomes]
rs13329195	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13329269	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17158080	0.80[ASN][1000 genomes]
rs17158127	0.83[ASN][1000 genomes]
rs17507300	0.86[ASN][1000 genomes]
rs17507693	0.80[ASN][1000 genomes]
rs17567151	0.80[ASN][1000 genomes]
rs2034617	0.80[ASN][1000 genomes]
rs2034618	0.80[ASN][1000 genomes]
rs2381030	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28436027	0.81[ASN][1000 genomes]
rs28485801	0.85[ASN][1000 genomes]
rs28538218	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28580677	0.88[ASN][1000 genomes]
rs28754750	0.80[ASN][1000 genomes]
rs3087804	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34869943	0.81[ASN][1000 genomes]
rs35207081	0.83[ASN][1000 genomes]
rs35627116	0.85[ASN][1000 genomes]
rs36038412	0.83[ASN][1000 genomes]
rs4079029	0.88[ASN][1000 genomes]
rs58329615	0.88[ASN][1000 genomes]
rs59896565	0.80[ASN][1000 genomes]
rs61375537	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62010212	0.80[ASN][1000 genomes]
rs62010214	0.80[ASN][1000 genomes]
rs6603044	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6603046	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66603627	0.87[ASN][1000 genomes]
rs66606849	0.83[ASN][1000 genomes]
rs66982382	0.87[ASN][1000 genomes]
rs67482297	0.83[ASN][1000 genomes]
rs67822554	0.83[ASN][1000 genomes]
rs7163516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7166645	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170547	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7172665	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7177599	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7181169	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs750214	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7757	0.83[ASN][1000 genomes]
rs8027577	0.80[ASN][1000 genomes]
rs8031896	0.86[ASN][1000 genomes]
rs8035810	0.80[ASN][1000 genomes]
rs8040457	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8040998	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8043224	0.80[ASN][1000 genomes]
rs9646239	0.83[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	nsv1040336	chr15:83578947-83768335	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2084839	BTBD1	cis	Nerve Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83748800-83753800	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:83751400-83752200	Enhancers	K562	blood
3	chr15:83751600-83752200	Enhancers	Gastric	stomach
4	chr15:83751800-83752200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr15:83752000-83752400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr15:83752000-83757200	Weak transcription	Psoas Muscle	Psoas

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