Variant report

Variant	rs6836637
Chromosome Location	chr4:47467478-47467479
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	SRF	chr4:47467124-47467483	ECC-1	luminal epithelium:	n/a	chr4:47467258-47467275 chr4:47467258-47467276 chr4:47467256-47467274 chr4:47467259-47467274
2	SPI1	chr4:47466993-47467491	HL-60	blood:	n/a	chr4:47467220-47467229
3	PAX5	chr4:47467008-47467496	GM12878	blood:	n/a	chr4:47467220-47467229
4	CREB1	chr4:47466986-47467505	GM12878	blood:	n/a	n/a
5	EP300	chr4:47467064-47467496	GM12878	blood:	n/a	chr4:47467276-47467283
6	RCOR1	chr4:47467118-47467605	GM12878	blood:	n/a	n/a
7	NFIC	chr4:47466961-47467481	GM12878	blood:	n/a	n/a
8	ATF2	chr4:47466935-47467507	GM12878	blood:	n/a	n/a
9	CREB1	chr4:47466929-47467815	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47465829..47468286-chr4:47470252..47472768,2	K562	blood:

Variant related genes	Relation type
COMMD8	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10004682	0.95[ASN][1000 genomes]
rs10022793	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10029474	0.95[ASN][1000 genomes]
rs10030377	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10155173	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs10155287	0.85[CEU][hapmap]
rs10155404	0.85[CEU][hapmap]
rs10938484	0.95[ASN][1000 genomes]
rs11724538	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11729717	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11944531	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13102764	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106855	0.81[CEU][hapmap]
rs13138813	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28457819	0.86[ASN][1000 genomes]
rs28625886	0.95[ASN][1000 genomes]
rs28631883	0.95[ASN][1000 genomes]
rs4356892	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4388055	0.95[ASN][1000 genomes]
rs4446282	0.95[ASN][1000 genomes]
rs4450898	0.95[ASN][1000 genomes]
rs4493516	0.85[CEU][hapmap]
rs4591574	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4635794	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4695232	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57163868	0.95[ASN][1000 genomes]
rs61003073	0.86[ASN][1000 genomes]
rs6822230	0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7664913	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7671396	0.84[ASN][1000 genomes]
rs7693987	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7699557	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9942270	0.95[ASN][1000 genomes]
rs9998407	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6836637	ATP10D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47465800-47468000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:47466000-47473200	Weak transcription	Placenta	Placenta
3	chr4:47466000-47475400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:47466200-47467800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:47466200-47467800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr4:47466200-47468000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:47466200-47470400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:47466200-47470400	Weak transcription	Osteobl	bone
9	chr4:47466200-47470800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:47466200-47470800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:47466200-47470800	Weak transcription	Fetal Lung	lung
12	chr4:47466200-47470800	Weak transcription	NH-A	brain
13	chr4:47466200-47471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:47466200-47471000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:47466200-47471600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:47466200-47473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:47466400-47470800	Weak transcription	Fetal Heart	heart
18	chr4:47466600-47468800	Enhancers	GM12878-XiMat	blood
19	chr4:47467200-47468000	Enhancers	Fetal Kidney	kidney

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