Variant report

Variant	rs34296389
Chromosome Location	chr10:97578225-97578226
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	chr10:97577581-97578825	GM12892	blood:	n/a	n/a
2	POLR2A	chr10:97576705-97578856	GM18505	blood:	n/a	n/a
3	POLR2A	chr10:97574937-97578880	GM12891	blood:	n/a	n/a
4	MTA3	chr10:97578134-97578804	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:97577744-97578815	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:97577868-97580068	GM12878	blood:	n/a	n/a
7	PML	chr10:97577579-97579044	GM12878	blood:	n/a	n/a
8	POLR2A	chr10:97578211-97578921	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr10:97574825-97578894	GM12891	blood:	n/a	n/a
10	RCOR1	chr10:97578069-97578901	IMR90	lung:	n/a	n/a
11	NFATC1	chr10:97577508-97578895	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:97576591-97578817	GM12891	blood:	n/a	n/a
13	WRNIP1	chr10:97578168-97578654	GM12878	blood:	n/a	n/a
14	NFATC1	chr10:97575708-97578846	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:97577731-97578518	GM12892	blood:	n/a	n/a
16	POLR2A	chr10:97577815-97579311	GM12892	blood:	n/a	n/a
17	POLR2A	chr10:97574871-97578865	GM12891	blood:	n/a	n/a
18	POLR2A	chr10:97577641-97578804	GM12891	blood:	n/a	n/a
19	GATA2	chr10:97578156-97578757	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr10:97574823-97579264	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:97577593-97578881	GM12892	blood:	n/a	n/a
22	POLR2A	chr10:97576345-97578710	GM12878	blood:	n/a	n/a
23	POLR2A	chr10:97577964-97578264	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97572611..97574483-chr10:97578100..97579949,2	K562	blood:

Variant related genes	Relation type
ENTPD1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11592809	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11592937	0.85[EUR][1000 genomes]
rs11593038	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11594340	0.91[EUR][1000 genomes]
rs11595122	0.87[EUR][1000 genomes]
rs11595248	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11598540	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12761112	0.86[AMR][1000 genomes]
rs12761960	0.85[EUR][1000 genomes]
rs12763743	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12767650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12770313	0.87[EUR][1000 genomes]
rs12770849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12774334	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12775780	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12779833	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12780375	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12782273	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1409710	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2275272	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2296690	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3176886	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181115	0.86[EUR][1000 genomes]
rs34630379	0.85[EUR][1000 genomes]
rs34832675	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34833309	0.85[EUR][1000 genomes]
rs34836127	0.85[EUR][1000 genomes]
rs35691144	0.81[EUR][1000 genomes]
rs35700869	0.89[EUR][1000 genomes]
rs35712039	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35987262	0.83[EUR][1000 genomes]
rs3793751	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55859130	0.90[ASN][1000 genomes]
rs56853511	1.00[ASN][1000 genomes]
rs58636501	0.90[ASN][1000 genomes]
rs66751616	0.81[EUR][1000 genomes]
rs68078796	0.89[EUR][1000 genomes]
rs71482374	0.87[EUR][1000 genomes]
rs71482376	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482377	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71482378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97573200-97580000	Enhancers	HUVEC	blood vessel
2	chr10:97573800-97584400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:97574200-97583000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:97574400-97580800	Weak transcription	Small Intestine	intestine
5	chr10:97574400-97581000	Weak transcription	Spleen	Spleen
6	chr10:97574400-97581400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:97574600-97578400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:97574800-97590800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:97575000-97580400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr10:97575400-97579400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:97575400-97579600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:97575600-97596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:97575800-97579600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:97575800-97579800	Weak transcription	Left Ventricle	heart
15	chr10:97575800-97592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr10:97575800-97597000	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:97576000-97579400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:97576800-97580000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:97577000-97578600	Genic enhancers	Monocytes-CD14+_RO01746	blood
20	chr10:97577000-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:97577200-97578800	Genic enhancers	GM12878-XiMat	blood
22	chr10:97577200-97580000	Enhancers	NHDF-Ad	bronchial
23	chr10:97577200-97587200	Weak transcription	Lung	lung
24	chr10:97577200-97591400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:97577400-97578400	Weak transcription	Fetal Stomach	stomach
26	chr10:97577600-97583000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:97577800-97578400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:97577800-97580000	Enhancers	HepG2	liver
29	chr10:97578000-97578600	Enhancers	Aorta	Aorta
30	chr10:97578000-97579200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:97578000-97580600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:97578200-97578400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:97578200-97578400	Enhancers	Right Ventricle	heart
34	chr10:97578200-97578600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:97578200-97578600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:97578200-97579200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr10:97578200-97579200	Weak transcription	Primary B cells from cord blood	blood
38	chr10:97578200-97579600	Enhancers	NH-A	brain
39	chr10:97578200-97579800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:97578200-97579800	Enhancers	HMEC	breast
41	chr10:97578200-97579800	Enhancers	NHLF	lung
42	chr10:97578200-97580000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr10:97578200-97583000	Enhancers	Primary B cells from peripheral blood	blood

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