Variant report

Variant	rs12593316
Chromosome Location	chr15:83752690-83752691
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
ENSG00000064726	Chromatin interaction
ENSG00000263643	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10400812	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10520576	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs1112404	0.91[JPT][hapmap]
rs11259905	0.91[JPT][hapmap]
rs11259906	0.91[JPT][hapmap]
rs11259965	0.90[JPT][hapmap]
rs11259969	0.91[JPT][hapmap]
rs11852408	0.91[JPT][hapmap]
rs11852496	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11853742	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11856171	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs11857428	0.91[JPT][hapmap]
rs11857641	0.91[JPT][hapmap]
rs11858074	0.86[ASN][1000 genomes]
rs11858377	0.91[JPT][hapmap]
rs12438398	0.80[ASN][1000 genomes]
rs12439903	0.80[ASN][1000 genomes]
rs12440386	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12441585	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12443109	0.91[JPT][hapmap]
rs12591855	0.91[JPT][hapmap]
rs12592391	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12593638	0.82[JPT][hapmap]
rs12594496	0.91[JPT][hapmap]
rs12595330	0.91[JPT][hapmap]
rs12900411	0.91[JPT][hapmap];0.95[LWK][hapmap];0.86[ASN][1000 genomes]
rs12901811	0.86[ASN][1000 genomes]
rs12902721	0.87[ASW][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap];0.90[LWK][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12903066	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12904695	0.82[ASN][1000 genomes]
rs12906027	0.86[ASN][1000 genomes]
rs12906626	0.82[ASN][1000 genomes]
rs12907032	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12911706	0.86[ASN][1000 genomes]
rs12911891	0.86[ASN][1000 genomes]
rs12913130	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12917594	0.88[ASN][1000 genomes]
rs13329195	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs13329269	0.86[ASN][1000 genomes]
rs17158080	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs17158127	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs17294476	0.82[JPT][hapmap]
rs17507300	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs17507693	0.80[ASN][1000 genomes]
rs17567151	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs17567869	0.91[JPT][hapmap]
rs17568459	0.91[JPT][hapmap]
rs1901544	0.81[ASN][1000 genomes]
rs2034617	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2034618	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2084839	0.94[ASN][1000 genomes]
rs2381030	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs28436027	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs28485801	0.82[ASN][1000 genomes]
rs28538218	0.92[ASN][1000 genomes]
rs28580677	0.85[ASN][1000 genomes]
rs28754750	0.80[ASN][1000 genomes]
rs3087804	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs34869943	0.83[ASN][1000 genomes]
rs35207081	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs35627116	0.88[ASN][1000 genomes]
rs36038412	0.86[ASN][1000 genomes]
rs4079029	0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs4563011	0.91[JPT][hapmap]
rs55683536	0.82[ASN][1000 genomes]
rs56391827	0.82[ASN][1000 genomes]
rs58281154	0.82[ASN][1000 genomes]
rs58329615	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59896565	0.80[ASN][1000 genomes]
rs60935326	0.82[ASN][1000 genomes]
rs61323939	0.82[ASN][1000 genomes]
rs62010212	0.80[ASN][1000 genomes]
rs62010214	0.80[ASN][1000 genomes]
rs6603044	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs6603046	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs6603047	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs66603627	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs66606849	0.86[ASN][1000 genomes]
rs66982382	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs67482297	0.86[ASN][1000 genomes]
rs67822554	0.86[ASN][1000 genomes]
rs7163516	0.88[ASN][1000 genomes]
rs7165114	0.91[JPT][hapmap]
rs7165978	0.91[JPT][hapmap]
rs7166645	0.83[ASN][1000 genomes]
rs7170547	0.83[ASN][1000 genomes]
rs7173166	0.91[JPT][hapmap]
rs7177599	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7180407	0.91[JPT][hapmap]
rs7181169	0.82[ASN][1000 genomes]
rs73453289	0.85[ASN][1000 genomes]
rs73455410	0.82[ASN][1000 genomes]
rs73455413	0.82[ASN][1000 genomes]
rs7495911	0.91[JPT][hapmap]
rs750214	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7757	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs8023669	0.91[JPT][hapmap]
rs8027193	0.91[JPT][hapmap]
rs8027577	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs8031896	0.83[ASN][1000 genomes]
rs8035810	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs8037783	0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs8038486	0.91[JPT][hapmap]
rs8040457	0.83[ASN][1000 genomes]
rs8040998	0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs8043224	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs9646239	0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs965264	0.91[JPT][hapmap]

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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83748800-83753800	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:83752000-83757200	Weak transcription	Psoas Muscle	Psoas
3	chr15:83752200-83753000	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr15:83752200-83753800	Weak transcription	K562	blood
5	chr15:83752400-83752800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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