Variant report

Variant	rs7246846
Chromosome Location	chr19:52013359-52013360
allele	A/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	CUX1	chr19:52013074-52013383	K562	blood:	n/a	n/a
2	MAX	chr19:52013280-52013473	K562	blood:	n/a	n/a
3	RCOR1	chr19:52013252-52013550	K562	blood:	n/a	n/a
4	NR2F2	chr19:52013087-52014056	K562	blood:	n/a	n/a
5	TBL1XR1	chr19:52012978-52013388	K562	blood:	n/a	n/a
6	UBTF	chr19:52013223-52013404	K562	blood:	n/a	n/a
7	MYC	chr19:52013168-52013438	K562	blood:	n/a	n/a
8	TEAD4	chr19:52012977-52013950	K562	blood:	n/a	n/a
9	TAL1	chr19:52013218-52013820	K562	blood:	n/a	n/a
10	CEBPB	chr19:52013052-52013482	K562	blood:	n/a	chr19:52013298-52013311
11	RCOR1	chr19:52013014-52013811	K562	blood:	n/a	n/a
12	ZNF384	chr19:52013122-52013549	K562	blood:	n/a	n/a
13	ZBTB7A	chr19:52013280-52013496	K562	blood:	n/a	n/a
14	EP300	chr19:52012967-52013543	K562	blood:	n/a	chr19:52013259-52013273
15	EGR1	chr19:52013269-52013458	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52012622..52015355-chr19:52022475..52024820,2	K562	blood:

Variant related genes	Relation type
ENSG00000268839	TF binding region
ENSG00000268777	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10402495	0.98[ASN][1000 genomes]
rs10419489	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421023	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10421468	0.82[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12461323	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12461345	0.95[ASN][1000 genomes]
rs12463300	0.85[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs13343377	1.00[CEU][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1551556	0.82[MEX][hapmap]
rs16982740	0.82[CEU][hapmap]
rs16982743	0.82[CEU][hapmap]
rs16982761	0.83[ASW][hapmap]
rs2009362	0.81[MEX][hapmap]
rs2034889	0.93[ASN][1000 genomes]
rs2034891	0.86[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2864097	0.82[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs3810105	0.86[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs62116175	0.95[ASN][1000 genomes]
rs62116177	0.95[ASN][1000 genomes]
rs62116178	0.98[ASN][1000 genomes]
rs62116179	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509545	0.83[ASN][1000 genomes]
rs6509546	0.82[GIH][hapmap]
rs8102707	0.82[MEX][hapmap]
rs8106176	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs8106598	0.89[CHD][hapmap];0.80[LWK][hapmap]
rs8110247	0.94[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8113414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9304717	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304718	0.87[LWK][hapmap];0.82[MEX][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs962129	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs962130	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9676254	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9676256	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9676266	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9676272	0.86[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs7246846	LAIR1	cis	cerebellum	SCAN
rs7246846	ZNF274	cis	cerebellum	SCAN
rs7246846	ZNF446	cis	cerebellum	SCAN
rs7246846	LENG8	cis	parietal	SCAN
rs7246846	SIGLEC5	cis	lymphoblastoid	seeQTL
rs7246846	NAT14	cis	cerebellum	SCAN
rs7246846	NCR1	cis	parietal	SCAN
rs7246846	ZNF773	cis	cerebellum	SCAN
rs7246846	SIGLEC12	cis	Whole Blood	GTEx
rs7246846	NLRP4	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52002600-52015000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52012000-52013400	Weak transcription	Fetal Intestine Small	intestine
3	chr19:52012400-52013400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:52012400-52014600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr19:52012600-52014800	Enhancers	K562	blood
6	chr19:52013000-52014600	Enhancers	Primary neutrophils fromperipheralblood	blood

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