Variant report

Variant	rs855871
Chromosome Location	chr1:159044651-159044652
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	E2F4	chr1:159044396-159044752	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159043142..159045016-chr1:159045353..159047228,3	K562	blood:
2	chr1:159042502..159045008-chr1:159045227..159046853,2	K562	blood:

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000163568	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1633266	0.86[JPT][hapmap]
rs16841642	0.86[GIH][hapmap]
rs1772407	0.91[CHD][hapmap]
rs1772408	0.91[CHD][hapmap];0.80[GIH][hapmap];0.86[MEX][hapmap]
rs1894043	0.81[ASN][1000 genomes]
rs1935067	0.86[GIH][hapmap]
rs2078723	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2298803	0.86[GIH][hapmap]
rs2518562	0.81[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs2518563	0.91[ASN][1000 genomes]
rs2518564	0.91[ASN][1000 genomes]
rs2518565	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2570916	0.93[CHD][hapmap];0.80[GIH][hapmap];0.93[MEX][hapmap]
rs2814757	0.85[EUR][1000 genomes]
rs2814759	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814760	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2814764	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2852723	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs855865	0.83[GIH][hapmap]
rs855866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs855867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs855871	S100A7A	cis	parietal	SCAN
rs855871	PMF1	cis	parietal	SCAN
rs855871	FCRL4	cis	cerebellum	SCAN
rs855871	PEA15	cis	cerebellum	SCAN
rs855871	PHGDH	trans	lymphoblastoid	seeQTL
rs855871	DPM3	cis	cerebellum	SCAN
rs855871	CCDC19	cis	cerebellum	SCAN
rs855871	AIM2	Cis_1M	lymphoblastoid	RTeQTL
rs855871	AIM2	cis	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038400-159045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
3	chr1:159039000-159046600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:159040000-159045400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:159041800-159045200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:159042000-159044800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:159042000-159045200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:159043000-159046000	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:159043200-159046200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:159044000-159045800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:159044200-159046000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:159044200-159047200	Active TSS	GM12878-XiMat	blood
13	chr1:159044600-159044800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:159044600-159046000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:159044600-159046000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:159044600-159046000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr1:159044600-159046200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:159044600-159046600	Active TSS	Primary B cells from peripheral blood	blood

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