Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:100046503..100049390-chr2:100109448..100111972,2	MCF-7	breast:
2	chr2:100108007..100111568-chr2:100119889..100123182,3	K562	blood:
3	chr2:100106008..100108936-chr2:100109053..100113272,5	MCF-7	breast:
4	chr2:100105839..100108268-chr2:100110978..100113456,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

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

rs_ID	r²[population]
rs10496336	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11885942	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11887935	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11896520	0.81[AMR][1000 genomes]
rs12466114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479064	0.81[ASN][1000 genomes]
rs1823569	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305352	0.81[EUR][1000 genomes]
rs2309618	0.82[AMR][1000 genomes]
rs28369945	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28382977	0.81[EUR][1000 genomes]
rs3087403	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792143	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3792150	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851207	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61436115	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62155807	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6714650	0.81[AMR][1000 genomes]
rs6748200	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737094	0.93[AMR][1000 genomes];0.88[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv535841	chr2:100072790-100112121	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4851210	TSGA10	cis	Skin Sun Exposed Lower leg	GTEx
rs4851210	LYG1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100107400-100111600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:100107600-100111600	Weak transcription	Fetal Kidney	kidney
3	chr2:100107600-100111600	Weak transcription	Fetal Lung	lung
4	chr2:100107600-100111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:100107600-100111800	Weak transcription	A549	lung
6	chr2:100107600-100112400	Weak transcription	Fetal Intestine Large	intestine
7	chr2:100107600-100112400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:100107600-100113000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:100107600-100119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:100107800-100111600	Weak transcription	K562	blood
11	chr2:100109400-100112000	Weak transcription	HepG2	liver
12	chr2:100111000-100111600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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