Variant report

Variant	rs6837983
Chromosome Location	chr4:16388326-16388327
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16387221..16389892-chr4:16394899..16397221,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1018126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731242	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11736183	0.93[EUR][1000 genomes]
rs1501130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16893310	0.85[CHD][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs17308524	0.85[ASN][1000 genomes]
rs17487632	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1909915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1987773	0.85[ASN][1000 genomes]
rs2041538	0.93[EUR][1000 genomes]
rs2058424	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2191955	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2312945	0.92[EUR][1000 genomes]
rs28399788	0.85[ASN][1000 genomes]
rs41531449	0.93[EUR][1000 genomes]
rs4577575	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55823457	0.85[ASN][1000 genomes]
rs56127222	0.93[EUR][1000 genomes]
rs59179944	0.85[ASN][1000 genomes]
rs60706134	0.83[ASN][1000 genomes]
rs6449226	0.85[ASN][1000 genomes]
rs6449228	0.85[ASN][1000 genomes]
rs6449229	0.85[ASN][1000 genomes]
rs6449230	0.82[ASN][1000 genomes]
rs6449236	0.83[ASN][1000 genomes]
rs67487480	0.93[EUR][1000 genomes]
rs67798922	0.85[ASN][1000 genomes]
rs67965240	0.93[EUR][1000 genomes]
rs6817116	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6821068	0.85[ASN][1000 genomes]
rs6826508	0.85[ASN][1000 genomes]
rs6826788	0.85[ASN][1000 genomes]
rs6834803	0.85[ASN][1000 genomes]
rs73235992	0.85[ASN][1000 genomes]
rs7680027	0.85[CHD][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs975668	0.85[ASN][1000 genomes]
rs975669	0.85[ASN][1000 genomes]
rs975777	0.85[ASN][1000 genomes]
rs975778	0.85[ASN][1000 genomes]
rs990782	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1006449	chr4:16338191-16412544	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv428755	chr4:16366311-16528135	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv518102	chr4:16386449-16410294	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6837983	TACO1	trans	cerebellum	SCAN
rs6837983	ADAMTS19	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16388000-16388800	Weak transcription	Fetal Muscle Leg	muscle

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