Variant report

Variant	rs4348727
Chromosome Location	chr1:10265606-10265607
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10262965..10267097-chr1:10269180..10273005,9	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1002076	0.87[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs10492969	0.81[CHD][hapmap]
rs10492971	0.80[CEU][hapmap]
rs10492972	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs11121528	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121531	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11121532	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11121533	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11121551	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs11121552	1.00[CEU][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs11121557	0.81[CHD][hapmap]
rs11576866	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11582123	0.91[CEU][hapmap]
rs11585794	0.87[CEU][hapmap]
rs11587309	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs11587495	0.91[CEU][hapmap]
rs12117765	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120042	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs12120191	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs12122107	0.83[ASN][1000 genomes]
rs12127553	0.81[ASN][1000 genomes]
rs12127604	0.82[CEU][hapmap]
rs12129035	0.82[ASN][1000 genomes]
rs12130220	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap]
rs12130563	0.91[CEU][hapmap]
rs12131441	0.91[CEU][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap]
rs12133125	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12136376	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12137456	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12141246	0.80[CEU][hapmap]
rs12141416	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs12145227	0.89[ASN][1000 genomes]
rs12402052	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12403443	0.94[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap]
rs12406776	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12407992	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12408019	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12409754	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs12728071	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12733312	0.95[CEU][hapmap];0.85[JPT][hapmap]
rs12734551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs12737239	0.91[CEU][hapmap]
rs12751375	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12755094	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12757288	0.80[CEU][hapmap]
rs12757820	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339458	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs1467653	0.81[CHD][hapmap]
rs1536262	0.81[CHD][hapmap]
rs1536263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1538557	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs1555849	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs1556916	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs1556917	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs17034643	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs17034821	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs17396382	0.95[CEU][hapmap]
rs17400510	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17401924	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs17401966	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs17410217	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.88[TSI][hapmap]
rs17411502	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs2039778	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs2182326	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs2185252	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs2275424	0.95[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap]
rs34420285	0.85[ASN][1000 genomes]
rs35111552	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35187325	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35257796	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35766535	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35830240	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3737155	0.91[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap]
rs3748577	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs3748578	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
rs3748581	0.81[CHD][hapmap]
rs3753037	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap]
rs4240911	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.84[TSI][hapmap]
rs4333852	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs4475756	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs4529713	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs4846197	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs4846208	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4846209	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap]
rs4846210	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap]
rs4846212	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap]
rs4846216	0.81[CHD][hapmap]
rs4846219	0.81[CHD][hapmap]
rs58549151	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61784566	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61784570	0.86[EUR][1000 genomes]
rs61784572	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61784573	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784574	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784579	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784580	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6541085	0.81[CHD][hapmap]
rs6541089	0.83[CEU][hapmap]
rs6674843	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.92[TSI][hapmap]
rs6682868	0.81[CHD][hapmap]
rs6699879	0.85[ASN][1000 genomes]
rs6700866	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs746881	0.91[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[TSI][hapmap]
rs7520259	0.89[ASN][1000 genomes]
rs7520935	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap]
rs7546368	0.81[CHD][hapmap]
rs7553228	0.80[CEU][hapmap]
rs7553935	0.81[CHD][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]
rs8019	0.80[CEU][hapmap];0.81[CHD][hapmap];0.87[GIH][hapmap]
rs912962	0.81[CHD][hapmap]
rs912963	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs9332414	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs946501	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs946503	0.80[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.82[TSI][hapmap]
rs946504	0.81[CHD][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4348727	KIF1B	cis	parietal	SCAN
rs4348727	RNF207	cis	cerebellum	SCAN
rs4348727	AADACL3	cis	parietal	SCAN
rs4348727	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	chr1:10264600-10267600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:10264600-10267600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:10264600-10268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:10264600-10268200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:10264600-10269400	Weak transcription	HSMMtube	muscle
9	chr1:10264800-10269000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:10265200-10268200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:10265400-10269400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:10265400-10269400	Weak transcription	HepG2	liver
13	chr1:10265400-10269600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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