Variant report

Variant	rs6995041
Chromosome Location	chr8:61298005-61298006
allele	C/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	SPI1	chr8:61297838-61298089	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61296490..61298553-chr8:61300202..61301762,2	K562	blood:
2	chr8:61296490..61298553-chr8:61300202..61301849,3	K562	blood:

Variant related genes	Relation type
PDCL3P1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10098769	1.00[CEU][hapmap]
rs10102740	1.00[CEU][hapmap]
rs10808709	0.96[CEU][hapmap]
rs10957133	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776939	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11996592	0.96[CEU][hapmap]
rs13265543	0.81[EUR][1000 genomes]
rs1552071	0.87[EUR][1000 genomes]
rs17814894	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1842389	0.87[EUR][1000 genomes]
rs2056415	0.93[CEU][hapmap]
rs2272620	0.96[CEU][hapmap]
rs2326560	1.00[CEU][hapmap]
rs2326561	1.00[CEU][hapmap]
rs2326562	0.92[CEU][hapmap]
rs2326568	1.00[CEU][hapmap]
rs2326569	0.93[CEU][hapmap]
rs2875967	0.92[CEU][hapmap]
rs2875968	0.92[CEU][hapmap]
rs2875973	1.00[CEU][hapmap]
rs2875974	1.00[CEU][hapmap]
rs2946154	0.93[CEU][hapmap]
rs2981277	1.00[CEU][hapmap]
rs3735825	1.00[CEU][hapmap]
rs3735826	0.92[CEU][hapmap]
rs41420549	0.92[CEU][hapmap]
rs6471875	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984378	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6987084	1.00[CEU][hapmap]
rs7000166	0.93[CEU][hapmap]
rs7001696	0.81[EUR][1000 genomes]
rs7013249	0.92[CEU][hapmap]
rs7815543	0.93[CEU][hapmap]
rs7824045	1.00[CEU][hapmap]
rs7825612	0.87[EUR][1000 genomes]
rs7827453	1.00[CEU][hapmap]
rs7829359	1.00[CEU][hapmap]
rs7830710	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7839516	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs7842586	1.00[CEU][hapmap]
rs9298039	0.96[CEU][hapmap]
rs948422	0.81[EUR][1000 genomes]
rs9643523	1.00[CEU][hapmap]

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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv890944	chr8:61252500-61307115	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6995041	RAB2	cis	lesional skin	skin_eQTL
rs6995041	RAB2	cis	normal skin	skin_eQTL
rs6995041	RAB2A	Cis_1M	lymphoblastoid	RTeQTL
rs6995041	RAB2	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61297000-61301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61297400-61298400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr8:61297400-61298600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:61297400-61298600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:61297600-61298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:61297800-61298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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