Variant report

Variant	rs11694644
Chromosome Location	chr2:55687618-55687619
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	IRF1	chr2:55687050-55688084	K562	blood:	n/a	chr2:55687905-55687926 chr2:55687909-55687920 chr2:55687907-55687921 chr2:55687911-55687921 chr2:55687911-55687925 chr2:55687909-55687929 chr2:55687910-55687924
2	EP300	chr2:55687422-55687793	K562	blood:	n/a	chr2:55687747-55687761

No.	Distal block	Cell Line	Cell type
1	chr2:55687006..55688643-chr2:55695301..55697827,2	K562	blood:
2	chr2:55685859..55689699-chr2:55700621..55705668,4	K562	blood:
3	chr2:55685859..55688576-chr2:55704168..55705704,2	K562	blood:

Variant related genes	Relation type
RNU6-221P	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11125576	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11680106	0.88[ASN][1000 genomes]
rs12612931	0.84[ASW][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.89[MKK][hapmap];0.92[ASN][1000 genomes]
rs12620109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12988721	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12989168	0.97[ASN][1000 genomes]
rs12990877	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13011640	0.98[ASN][1000 genomes]
rs13012151	0.90[ASN][1000 genomes]
rs13012554	0.89[ASN][1000 genomes]
rs13028756	0.85[ASN][1000 genomes]
rs13030415	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008040	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061031	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061032	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34076674	0.93[ASN][1000 genomes]
rs6729149	0.80[ASN][1000 genomes]
rs72917934	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7570299	0.87[CEU][hapmap]
rs7593229	0.87[CEU][hapmap];0.90[MEX][hapmap]
rs7600456	0.84[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897097	0.83[CEU][hapmap]
rs957267	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1802545	chr2:55668771-55687618	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11694644	CCDC104	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55686600-55688200	Flanking Active TSS	K562	blood
2	chr2:55687200-55687800	Active TSS	Osteobl	bone
3	chr2:55687600-55688000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:55687600-55688200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:55687600-55688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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