Variant report

Variant	rs12117765
Chromosome Location	chr1:10268170-10268171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:10267882-10268193	K562	blood:	n/a	chr1:10268073-10268084

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10267715..10269215-chr17:41398889..41400665,3	K562	blood:
2	chr1:10267715..10269215-chr17:41380462..41382415,2	K562	blood:

Variant related genes	Relation type
KIF1B	TF binding region
ENSG00000236383	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11121528	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121531	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11121532	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11121533	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12122107	0.83[ASN][1000 genomes]
rs12127553	0.81[ASN][1000 genomes]
rs12129035	0.82[ASN][1000 genomes]
rs12133125	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12136376	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12137456	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12145227	0.89[ASN][1000 genomes]
rs12402052	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12406776	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407992	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12408019	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12728071	0.80[EUR][1000 genomes]
rs12755094	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12757820	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339458	0.81[EUR][1000 genomes]
rs17400510	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2275424	0.81[EUR][1000 genomes]
rs34420285	0.85[ASN][1000 genomes]
rs35111552	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35187325	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35257796	0.81[EUR][1000 genomes]
rs35766535	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35830240	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35837142	0.82[EUR][1000 genomes]
rs3753037	0.81[EUR][1000 genomes]
rs4259656	0.82[EUR][1000 genomes]
rs4348727	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846208	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4846210	0.82[EUR][1000 genomes]
rs58549151	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61784566	0.88[ASN][1000 genomes]
rs61784570	0.83[EUR][1000 genomes]
rs61784572	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61784573	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61784574	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784579	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784580	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6699879	0.85[ASN][1000 genomes]
rs6700866	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7520259	0.89[ASN][1000 genomes]
rs7520651	0.81[EUR][1000 genomes]
rs7520935	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12117765	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10250000-10269800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10262000-10269400	Weak transcription	Fetal Brain Male	brain
3	chr1:10264000-10268200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:10264600-10268200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:10264600-10269400	Weak transcription	HSMMtube	muscle
6	chr1:10264800-10269000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:10265200-10268200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:10265400-10269400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:10265400-10269400	Weak transcription	HepG2	liver
10	chr1:10265400-10269600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:10267600-10269200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:10268000-10268200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:10268000-10268400	Enhancers	Primary neutrophils fromperipheralblood	blood

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