Variant report

Variant	rs12491877
Chromosome Location	chr3:158515553-158515554
allele	A/C
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	EBF1	chr3:158515456-158515683	GM12878	blood:	n/a	chr3:158515580-158515591

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158515468..158517910-chr3:158518544..158521812,3	K562	blood:
2	chr3:158514961..158517912-chr3:158518534..158521180,4	MCF-7	breast:

Variant related genes	Relation type
MFSD1	TF binding region
ENSG00000272247	Chromatin interaction
ENSG00000118855	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10513528	0.93[EUR][1000 genomes]
rs12489730	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12490494	0.84[EUR][1000 genomes]
rs12495962	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12497488	0.98[ASN][1000 genomes]
rs1430413	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1430414	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1503099	0.80[EUR][1000 genomes]
rs1560417	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1560418	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16829365	0.86[ASN][1000 genomes]
rs17642769	0.94[ASN][1000 genomes]
rs17643171	0.94[ASN][1000 genomes]
rs17643252	0.95[ASN][1000 genomes]
rs17643483	0.95[ASN][1000 genomes]
rs17643581	0.95[ASN][1000 genomes]
rs17643860	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17643917	0.91[ASN][1000 genomes]
rs17699478	0.94[ASN][1000 genomes]
rs17699526	0.94[ASN][1000 genomes]
rs17699997	0.95[ASN][1000 genomes]
rs17700122	0.92[ASN][1000 genomes]
rs17700475	0.98[ASN][1000 genomes]
rs2279561	0.94[ASN][1000 genomes]
rs2279562	0.94[ASN][1000 genomes]
rs2307064	0.94[ASN][1000 genomes]
rs2566347	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28364680	0.99[EUR][1000 genomes]
rs34690420	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3863076	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs41272621	0.93[EUR][1000 genomes]
rs55678388	0.95[ASN][1000 genomes]
rs55705231	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55717824	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55776609	0.91[ASN][1000 genomes]
rs56023805	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56078503	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs56105525	0.98[ASN][1000 genomes]
rs56152025	0.95[ASN][1000 genomes]
rs56235582	0.97[ASN][1000 genomes]
rs56261306	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56318834	0.95[ASN][1000 genomes]
rs57262841	0.98[ASN][1000 genomes]
rs59163359	0.98[ASN][1000 genomes]
rs59173444	0.89[ASN][1000 genomes]
rs60203196	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61138408	0.98[ASN][1000 genomes]
rs61794798	0.95[ASN][1000 genomes]
rs61794799	0.95[ASN][1000 genomes]
rs61794818	0.97[ASN][1000 genomes]
rs61794821	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs61794822	0.98[ASN][1000 genomes]
rs61794833	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61794834	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61794835	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61794858	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61794859	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61796760	0.83[ASN][1000 genomes]
rs61796762	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61796764	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61796766	0.84[ASN][1000 genomes]
rs61796768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796775	0.93[EUR][1000 genomes]
rs61796815	0.81[EUR][1000 genomes]
rs6441221	0.95[ASN][1000 genomes]
rs6761989	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6783610	0.95[ASN][1000 genomes]
rs6792908	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73158361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624420	0.93[ASN][1000 genomes]
rs7624702	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12491877	GFM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158486800-158518200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:158509200-158518200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:158509200-158519000	Weak transcription	Aorta	Aorta
4	chr3:158509200-158519200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:158513000-158518600	Weak transcription	Brain Hippocampus Middle	brain

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