Variant report

Variant	rs7171750
Chromosome Location	chr15:44025858-44025859
allele	C/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	MAFK	chr15:44025850-44026019	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CATSPER2P1	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10163054	1.00[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10438303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518820	0.88[CEU][hapmap]
rs11070407	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11070408	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11070410	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs11852840	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11856184	0.87[EUR][1000 genomes]
rs11856795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs11857661	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12101756	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12437808	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12441127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441861	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12441984	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12442129	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12442297	1.00[CEU][hapmap]
rs12443102	0.88[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs12702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13329084	0.86[CEU][hapmap]
rs13380397	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16950562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16963953	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16965120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs16977724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs16977798	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2228368	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2255440	0.88[CEU][hapmap]
rs2260160	0.88[CEU][hapmap]
rs2277531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2412810	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2439	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2447193	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447196	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2447208	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447211	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2447212	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2467402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467426	0.88[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2470121	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2614811	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2614819	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2788	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28433760	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28495368	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs28502289	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28504496	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28509275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs28513374	1.00[CHB][hapmap]
rs28542007	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28546844	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28578041	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28578398	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28583806	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28590651	0.81[EUR][1000 genomes]
rs28595038	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28606452	0.90[EUR][1000 genomes]
rs28636829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs28674750	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28678901	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28684672	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28699233	0.86[CEU][hapmap]
rs28712213	0.80[EUR][1000 genomes]
rs28718261	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28781888	0.81[EUR][1000 genomes]
rs28891769	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2915776	0.87[EUR][1000 genomes]
rs2915779	0.87[EUR][1000 genomes]
rs2915792	0.84[EUR][1000 genomes]
rs2920781	0.88[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs2927071	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2927072	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs2927075	0.89[EUR][1000 genomes]
rs2955969	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2957637	0.90[EUR][1000 genomes]
rs3097773	0.88[CEU][hapmap]
rs3101443	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs35457073	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736180	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3742982	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3759790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3759791	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3784275	0.86[CEU][hapmap]
rs3816792	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs3825783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes]
rs3862142	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs4332723	0.99[ASN][1000 genomes]
rs496584	0.88[CEU][hapmap]
rs4997480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524908	1.00[CHB][hapmap]
rs533143	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs56008017	0.81[EUR][1000 genomes]
rs575082	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs57865312	0.90[EUR][1000 genomes]
rs60883262	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62018952	0.84[ASN][1000 genomes]
rs667476	0.94[CHB][hapmap]
rs688009	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs693919	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs694461	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7167976	0.93[AFR][1000 genomes]
rs7168158	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7169322	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7169988	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7170167	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7174208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7174732	0.93[ASN][1000 genomes]
rs7175032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7175129	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7180818	0.83[ASN][1000 genomes]
rs7181039	1.00[CEU][hapmap]
rs72714307	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs8023458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs8023508	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs8023696	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8029210	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8030169	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8032649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs8033846	0.90[ASN][1000 genomes]
rs8033995	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8042868	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs9944216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9989313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	esv2757598	chr15:43831923-44058634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv904150	chr15:43836478-44040965	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv904158	chr15:43852043-44053617	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
11	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
12	nsv976928	chr15:43948866-44040886	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
14	esv33661	chr15:44016519-44064420	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7171750	ADAL	cis	lung	GTEx
rs7171750	CATSPER2	cis	lung	GTEx
rs7171750	ELL3	cis	multi-tissue	Pritchard
rs7171750	ADAL	cis	Esophagus Muscularis	GTEx
rs7171750	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs7171750	CATSPER2	cis	Whole Blood	GTEx
rs7171750	CATSPER2	cis	Esophagus Mucosa	GTEx
rs7171750	CKMT1A	cis	Esophagus Mucosa	GTEx
rs7171750	AC011330.5	cis	Esophagus Mucosa	GTEx
rs7171750	CKMT1A	cis	Skin Sun Exposed Lower leg	GTEx
rs7171750	ADAL	cis	Thyroid	GTEx
rs7171750	ADAL	cis	Artery Tibial	GTEx
rs7171750	ADAL	cis	Nerve Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44013400-44037400	Weak transcription	Fetal Intestine Small	intestine
2	chr15:44020000-44038000	Weak transcription	Brain Cingulate Gyrus	brain

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