Variant report

Variant	rs7082531
Chromosome Location	chr10:97581871-97581872
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	POLR2A	chr10:97580876-97582105	GM12891	blood:	n/a	n/a
2	POLR2A	chr10:97580719-97582128	GM12878	blood:	n/a	n/a
3	SPI1	chr10:97581511-97581943	HL-60	blood:	n/a	chr10:97581708-97581715 chr10:97581692-97581701 chr10:97581705-97581718
4	SPI1	chr10:97581441-97581929	HL-60	blood:	n/a	chr10:97581708-97581715 chr10:97581692-97581701 chr10:97581705-97581718
5	POLR2A	chr10:97580825-97582126	GM12891	blood:	n/a	n/a
6	ZNF384	chr10:97581496-97581887	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10736092	0.89[ASN][1000 genomes]
rs10736093	0.89[ASN][1000 genomes]
rs10736094	0.88[ASN][1000 genomes]
rs10748645	0.86[ASN][1000 genomes]
rs10748647	0.89[ASN][1000 genomes]
rs10748648	0.89[ASN][1000 genomes]
rs10748649	0.83[ASN][1000 genomes]
rs10786234	0.84[ASN][1000 genomes]
rs10786236	0.84[ASN][1000 genomes]
rs10882663	0.84[ASN][1000 genomes]
rs10882666	0.86[ASN][1000 genomes]
rs10882673	0.89[ASN][1000 genomes]
rs10882674	0.89[ASN][1000 genomes]
rs10882675	0.89[ASN][1000 genomes]
rs10882676	0.89[ASN][1000 genomes]
rs11188486	0.86[ASN][1000 genomes]
rs11188497	0.89[ASN][1000 genomes]
rs11188513	0.88[ASN][1000 genomes]
rs11517041	0.86[ASN][1000 genomes]
rs1342790	0.89[ASN][1000 genomes]
rs1573112	0.89[ASN][1000 genomes]
rs1891534	0.88[ASN][1000 genomes]
rs2051052	0.87[ASN][1000 genomes]
rs2153913	0.84[ASN][1000 genomes]
rs2153914	0.88[ASN][1000 genomes]
rs2185818	0.84[ASN][1000 genomes]
rs2226163	0.88[ASN][1000 genomes]
rs2275759	0.88[ASN][1000 genomes]
rs2861152	0.89[ASN][1000 genomes]
rs2901872	0.86[ASN][1000 genomes]
rs3176881	0.88[ASN][1000 genomes]
rs3176890	0.89[ASN][1000 genomes]
rs3176891	0.89[ASN][1000 genomes]
rs3181124	0.88[ASN][1000 genomes]
rs3181131	0.89[ASN][1000 genomes]
rs3181132	0.89[ASN][1000 genomes]
rs3892344	0.89[ASN][1000 genomes]
rs3929900	0.84[ASN][1000 genomes]
rs4074424	0.89[ASN][1000 genomes]
rs4075310	0.89[ASN][1000 genomes]
rs4396219	0.86[ASN][1000 genomes]
rs4412693	0.89[ASN][1000 genomes]
rs4431963	0.81[ASN][1000 genomes]
rs4539246	0.89[ASN][1000 genomes]
rs4582902	0.81[ASN][1000 genomes]
rs4917705	0.83[ASN][1000 genomes]
rs4917707	0.83[ASN][1000 genomes]
rs4917714	0.89[ASN][1000 genomes]
rs4917715	0.89[ASN][1000 genomes]
rs4918968	0.84[ASN][1000 genomes]
rs4918969	0.86[ASN][1000 genomes]
rs6584027	0.84[ASN][1000 genomes]
rs6584030	0.86[ASN][1000 genomes]
rs7074403	0.88[ASN][1000 genomes]
rs7077566	0.83[ASN][1000 genomes]
rs7083411	0.84[ASN][1000 genomes]
rs7083960	0.89[ASN][1000 genomes]
rs7088584	0.88[ASN][1000 genomes]
rs7088961	0.88[ASN][1000 genomes]
rs7913082	0.86[ASN][1000 genomes]
rs7914286	0.86[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	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7082531	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs7082531	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97573800-97584400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:97574200-97583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:97574800-97590800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr10:97575800-97592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
7	chr10:97577200-97587200	Weak transcription	Lung	lung
8	chr10:97577200-97591400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr10:97577600-97583000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr10:97578200-97583000	Enhancers	Primary B cells from peripheral blood	blood
11	chr10:97578600-97588800	Weak transcription	Fetal Stomach	stomach
12	chr10:97578600-97604400	Weak transcription	Aorta	Aorta
13	chr10:97579200-97582400	Enhancers	Primary B cells from cord blood	blood
14	chr10:97580400-97583200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:97580600-97582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:97580800-97582000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr10:97581000-97600600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr10:97581200-97596400	Weak transcription	Small Intestine	intestine
19	chr10:97581200-97602000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:97581400-97582000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:97581400-97582200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr10:97581400-97591000	Weak transcription	Spleen	Spleen
23	chr10:97581800-97582000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr10:97581800-97582600	Weak transcription	GM12878-XiMat	blood

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