Variant report

Variant	rs221430
Chromosome Location	chr14:80068121-80068122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12433645	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1364603	0.81[CEU][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs170248	0.92[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs170255	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs172712	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs178348	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836224	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs17836226	0.85[CEU][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs1834242	0.82[AMR][1000 genomes]
rs188780	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1991158	0.83[ASW][hapmap];0.85[CEU][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs2008380	0.85[CEU][hapmap];0.80[AMR][1000 genomes]
rs221416	0.83[ASW][hapmap];0.88[CEU][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs221418	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs221421	0.88[CEU][hapmap]
rs221423	0.83[ASW][hapmap];0.92[CEU][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs221425	0.83[JPT][hapmap]
rs221427	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs221428	0.96[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs221429	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs221431	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs221432	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs221434	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs221435	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs221518	0.93[EUR][1000 genomes]
rs2543570	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2543572	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2543574	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2543576	0.96[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2543577	0.92[ASW][hapmap];0.96[CEU][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2543579	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2543580	0.83[ASW][hapmap];0.96[CEU][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2543581	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2543582	0.83[ASW][hapmap];0.96[CEU][hapmap];0.81[LWK][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2552407	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2552416	0.91[EUR][1000 genomes]
rs2552419	0.96[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7140480	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs8009763	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8013736	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8017528	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs221430	C14orf174	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:80063400-80069600	Weak transcription	Aorta	Aorta
4	chr14:80064800-80074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:80065600-80072200	Weak transcription	NH-A	brain
6	chr14:80067000-80069400	Enhancers	Fetal Intestine Large	intestine
7	chr14:80067600-80068200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:80067800-80068200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr14:80067800-80068400	Enhancers	Fetal Lung	lung
10	chr14:80068000-80068200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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