Variant report

Variant	rs12995874
Chromosome Location	chr2:97703419-97703420
allele	C/T
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	POU2F2	chr2:97703130-97703795	GM12891	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
2	BATF	chr2:97703210-97703532	GM12878	blood:	n/a	chr2:97703363-97703374
3	MEF2A	chr2:97703188-97703615	GM12878	blood:	n/a	chr2:97703431-97703445 chr2:97703426-97703447
4	POU2F2	chr2:97703039-97703707	GM12891	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
5	POU2F2	chr2:97703174-97703697	GM12878	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
6	POU2F2	chr2:97703300-97703585	GM12878	blood:	n/a	chr2:97703525-97703547 chr2:97703420-97703430 chr2:97703416-97703437 chr2:97703532-97703540 chr2:97703418-97703433 chr2:97703422-97703430 chr2:97703530-97703540 chr2:97703528-97703543 chr2:97703421-97703431 chr2:97703420-97703430 chr2:97703421-97703432
7	BATF	chr2:97703257-97703526	GM12878	blood:	n/a	chr2:97703363-97703374
8	MEF2A	chr2:97703209-97703641	GM12878	blood:	n/a	chr2:97703431-97703445 chr2:97703426-97703447

Variant related genes	Relation type
ENSG00000236847	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1148577	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1148587	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1148591	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1148592	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1148593	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148594	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1148600	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11688134	0.80[ASN][1000 genomes]
rs1257010	0.89[ASN][1000 genomes]
rs1257013	0.89[ASN][1000 genomes]
rs1257014	0.88[ASN][1000 genomes]
rs1257021	0.80[ASN][1000 genomes]
rs1257022	0.80[ASN][1000 genomes]
rs1257026	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1257050	0.86[AMR][1000 genomes]
rs1257084	0.86[AMR][1000 genomes]
rs1257088	0.80[AMR][1000 genomes]
rs1257089	0.80[AMR][1000 genomes]
rs1257092	0.82[AMR][1000 genomes]
rs1257096	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1257099	0.83[AMR][1000 genomes]
rs1257101	0.84[AMR][1000 genomes]
rs1257107	0.85[AMR][1000 genomes]
rs1257117	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1268684	0.83[AMR][1000 genomes]
rs1271064	0.81[AMR][1000 genomes]
rs1669760	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1669761	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1796048	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1796050	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2463903	0.86[AMR][1000 genomes]
rs4063406	0.80[AMR][1000 genomes]
rs4063952	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6730782	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
4	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
6	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
7	nsv582498	chr2:97639135-97715154	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv1840947	chr2:97655963-97877591	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv431391	chr2:97669032-98020523	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv431402	chr2:97669032-98281634	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
11	nsv535831	chr2:97671335-98270990	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	nsv428055	chr2:97691040-97893135	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv963666	chr2:97702053-97706792	Enhancers Weak transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12995874	ANKRD36B	cis	Thyroid	GTEx
rs12995874	FAHD2A	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97702800-97703800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:97703000-97704000	Enhancers	GM12878-XiMat	blood

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