Variant report

Variant	rs11265317
Chromosome Location	chr1:160053342-160053343
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160016096..160017131-chr1:160053104..160054644,17	MCF-7	breast:
2	chr1:160013770..160016767-chr1:160052121..160053967,2	MCF-7	breast:
3	chr1:160033050..160035856-chr1:160052721..160054734,2	K562	blood:
4	chr1:160050165..160052033-chr1:160052502..160054794,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162728	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1131891	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1186675	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12401984	0.86[AFR][1000 genomes]
rs12402134	0.86[AFR][1000 genomes]
rs12402888	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12402969	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12408584	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12727520	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1884998	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3747619	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41265757	0.91[EUR][1000 genomes]
rs55753565	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55780668	0.83[AMR][1000 genomes]
rs56187338	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56211999	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56282521	0.82[AMR][1000 genomes]
rs61821993	0.91[EUR][1000 genomes]
rs61822013	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61822015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs970365	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	esv3323578	chr1:160052753-160055301	Flanking Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11265317	IGSF8	cis	Whole Blood	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160049800-160057200	Enhancers	Fetal Brain Male	brain
2	chr1:160051400-160061600	Weak transcription	HepG2	liver
3	chr1:160051600-160055600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:160052000-160053400	Enhancers	Brain Germinal Matrix	brain
5	chr1:160052000-160055600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:160052400-160060400	Weak transcription	Dnd41	blood
7	chr1:160052600-160053800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:160052800-160053400	Enhancers	Fetal Brain Female	brain
9	chr1:160052800-160053800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:160053000-160053400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr1:160053000-160053600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:160053000-160053800	Weak transcription	Brain Substantia Nigra	brain
13	chr1:160053000-160054000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:160053000-160055000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:160053000-160065200	Weak transcription	Hela-S3	cervix
16	chr1:160053200-160053400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr1:160053200-160053400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:160053200-160053400	Active TSS	Brain Anterior Caudate	brain
19	chr1:160053200-160053400	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:160053200-160053400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:160053200-160053400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:160053200-160053600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:160053200-160053600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr1:160053200-160053600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:160053200-160053600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:160053200-160053600	Enhancers	Right Ventricle	heart
27	chr1:160053200-160053800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:160053200-160053800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr1:160053200-160054000	Active TSS	Brain Angular Gyrus	brain
30	chr1:160053200-160062000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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