Variant report

Variant	rs2252744
Chromosome Location	chr10:43834869-43834870
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	ZNF263	chr10:43834766-43835387	HEK293-T-REx	kidney:	n/a	chr10:43835250-43835259
2	CTCF	chr10:43834820-43834970	HepG2	liver:	n/a	n/a
3	CTCF	chr10:43834840-43834990	GM12865	blood:	n/a	n/a
4	MAX	chr10:43834398-43835135	A549	lung:	n/a	chr10:43834687-43834697 chr10:43834687-43834697

No.	Distal block	Cell Line	Cell type
1	chr10:43834183..43835969-chr10:43838469..43840193,2	K562	blood:
2	chr10:43783027..43784706-chr10:43833864..43836036,2	MCF-7	breast:
3	chr10:43832614..43835578-chr10:43888340..43890232,2	MCF-7	breast:
4	chr10:43832495..43835214-chr10:43835530..43838072,2	MCF-7	breast:

Variant related genes	Relation type
RNU6ATAC11P	TF binding region
ENSG00000221468	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10899792	0.84[ASN][1000 genomes]
rs10899795	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10899799	0.80[EUR][1000 genomes]
rs11238522	0.83[ASN][1000 genomes]
rs12221341	0.84[ASN][1000 genomes]
rs2243492	0.81[ASN][1000 genomes]
rs2245413	0.84[ASN][1000 genomes]
rs2245710	0.84[ASN][1000 genomes]
rs2252761	0.99[ASN][1000 genomes]
rs2253263	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2493661	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3000708	0.84[ASN][1000 genomes]
rs4245604	0.82[ASN][1000 genomes]
rs60789236	0.83[ASN][1000 genomes]
rs7912358	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription 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	17 gene(s)	inside rSNPs	diseases
4	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1035873	chr10:43721143-43873664	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv466882	chr10:43721481-43849358	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv550697	chr10:43721481-43849358	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1044422	chr10:43731521-43860307	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43828800-43839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr10:43828800-43839800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr10:43833400-43835200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:43833400-43836800	Enhancers	Placenta	Placenta
5	chr10:43833600-43835000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr10:43833600-43835200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43833600-43835200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:43833600-43835200	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr10:43833600-43835200	Enhancers	Lung	lung
10	chr10:43833600-43836600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:43833600-43836600	Enhancers	Spleen	Spleen
12	chr10:43833800-43835000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:43833800-43835000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr10:43833800-43835600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:43834000-43835600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:43834000-43835800	Enhancers	A549	lung
17	chr10:43834400-43835400	Bivalent Enhancer	HepG2	liver
18	chr10:43834600-43835000	Enhancers	Gastric	stomach
19	chr10:43834600-43835200	Bivalent Enhancer	Brain Hippocampus Middle	brain
20	chr10:43834600-43835800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr10:43834800-43835000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:43834800-43835000	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr10:43834800-43835000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr10:43834800-43835000	Enhancers	Pancreas	Pancrea
25	chr10:43834800-43835200	Bivalent Enhancer	Colonic Mucosa	Colon

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