Variant report

Variant	rs871163
Chromosome Location	chr12:123927513-123927514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:123927166-123927737	HL-60	blood:	n/a	n/a
2	CEBPB	chr12:123927457-123927651	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:123927247-123927764	HL-60	blood:	n/a	n/a
4	RUNX3	chr12:123927234-123927767	GM12878	blood:	n/a	n/a
5	NFIC	chr12:123927226-123927711	GM12878	blood:	n/a	n/a
6	MEF2A	chr12:123927356-123927789	GM12878	blood:	n/a	n/a
7	NFIC	chr12:123927127-123927733	GM12878	blood:	n/a	n/a
8	ATF2	chr12:123927203-123927661	GM12878	blood:	n/a	n/a
9	MEF2C	chr12:123927308-123927784	GM12878	blood:	n/a	chr12:123927527-123927542
10	SPI1	chr12:123927318-123927649	GM12878	blood:	n/a	n/a
11	CEBPB	chr12:123927452-123927660	K562	blood:	n/a	n/a
12	SPI1	chr12:123927254-123927666	GM12891	blood:	n/a	n/a
13	SPI1	chr12:123927144-123927860	GM12878	blood:	n/a	n/a
14	SPI1	chr12:123927279-123927639	GM12891	blood:	n/a	n/a
15	SPI1	chr12:123927232-123927715	HL-60	blood:	n/a	n/a
16	RUNX3	chr12:123927278-123927734	GM12878	blood:	n/a	n/a
17	CEBPB	chr12:123927365-123927733	A549	lung:	n/a	n/a
18	MEF2A	chr12:123927220-123927758	GM12878	blood:	n/a	n/a
19	EBF1	chr12:123927326-123927519	GM12878	blood:	n/a	n/a
20	SPI1	chr12:123927376-123927572	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:123927413-123927616	K562	blood:	n/a	n/a
22	SPI1	chr12:123927403-123927555	K562	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123919342..123922431-chr12:123924734..123927863,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270445	TF binding region
ENSG00000150977	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11507736	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11507738	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1706475	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1706476	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1707730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1707731	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7961025	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3415110	chr12:123927349-123929297	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs871163	MGC7036	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123921800-123928600	Weak transcription	HepG2	liver
2	chr12:123921800-123928800	Weak transcription	Right Atrium	heart
3	chr12:123921800-123929600	Weak transcription	Spleen	Spleen
4	chr12:123921800-123930200	Weak transcription	Pancreas	Pancrea
5	chr12:123921800-123930400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:123922400-123928800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:123922600-123928400	Weak transcription	Lung	lung
8	chr12:123922600-123929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:123926200-123929400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:123926200-123932800	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:123926200-123933000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:123926400-123928200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:123926600-123930200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:123926800-123928400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:123927200-123927600	Flanking Active TSS	GM12878-XiMat	blood
16	chr12:123927200-123927800	Enhancers	Primary B cells from cord blood	blood
17	chr12:123927200-123927800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:123927200-123929400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:123927400-123928000	Enhancers	Primary hematopoietic stem cells	blood
20	chr12:123927400-123929000	Weak transcription	Fetal Lung	lung

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