Variant report

Variant	rs13252013
Chromosome Location	chr8:90759109-90759110
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90757406..90760998-chr8:90767519..90771455,4	MCF-7	breast:
2	chr8:90757887..90760826-chr8:90762391..90763974,2	K562	blood:
3	chr8:90758641..90760338-chr8:91012969..91015012,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1003843	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10095743	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12675281	0.80[EUR][1000 genomes]
rs13252917	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13259882	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13279023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs184302	0.85[EUR][1000 genomes]
rs218895	0.86[EUR][1000 genomes]
rs218899	0.87[EUR][1000 genomes]
rs218900	0.88[EUR][1000 genomes]
rs218901	0.88[EUR][1000 genomes]
rs218902	0.88[EUR][1000 genomes]
rs218905	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs218907	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218908	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218909	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs218910	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs218913	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs218914	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218916	0.80[EUR][1000 genomes]
rs218925	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218929	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218932	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218934	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218936	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs218944	0.86[EUR][1000 genomes]
rs218946	0.87[EUR][1000 genomes]
rs218947	0.87[EUR][1000 genomes]
rs218948	0.85[EUR][1000 genomes]
rs2644021	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2644033	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735870	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735871	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735873	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735878	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2735882	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs383592	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs385524	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39499	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39500	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39503	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39504	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39505	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39506	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs39509	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs39761	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs400411	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40246	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs40247	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs402886	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40452	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40453	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs40544	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs40545	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs405734	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs411279	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs416324	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs419754	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42490	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs431264	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43134	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs43225	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs447618	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs454441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4961158	0.80[EUR][1000 genomes]
rs51331	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6470366	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67143546	0.86[EUR][1000 genomes]
rs6992985	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6993133	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824932	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13252013	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs13252013	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90741600-90768200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:90742600-90767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:90742800-90762200	Weak transcription	Aorta	Aorta
4	chr8:90746200-90767800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:90749600-90762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:90749600-90768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:90749800-90767800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90749800-90768000	Weak transcription	Left Ventricle	heart
9	chr8:90749800-90768000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:90750000-90769000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:90750400-90761000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:90755000-90762400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:90755000-90767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:90755200-90766600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:90755400-90766400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:90755600-90766600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:90756400-90762400	Weak transcription	Fetal Stomach	stomach
18	chr8:90756400-90764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:90756400-90769200	Weak transcription	Pancreas	Pancrea
20	chr8:90758200-90760400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:90758400-90769000	Weak transcription	Ovary	ovary
22	chr8:90759000-90760000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr8:90759000-90760400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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