Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99752682..99755337-chr2:99756048..99758587,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10865030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs11123769	0.91[EUR][1000 genomes]
rs12993310	0.89[EUR][1000 genomes]
rs13028722	0.82[CEU][hapmap]
rs13404012	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1487271	0.89[EUR][1000 genomes]
rs1487272	0.80[EUR][1000 genomes]
rs1565054	0.87[EUR][1000 genomes]
rs1843807	0.89[EUR][1000 genomes]
rs1922625	0.80[CEU][hapmap]
rs2091798	0.83[EUR][1000 genomes]
rs2632285	0.81[EUR][1000 genomes]
rs35996174	0.80[EUR][1000 genomes]
rs4522654	0.80[CEU][hapmap]
rs4851189	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851191	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4851194	0.89[EUR][1000 genomes]
rs4851199	0.82[CEU][hapmap]
rs6542871	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6749029	0.82[CEU][hapmap]
rs7579999	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7586635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7602401	0.89[EUR][1000 genomes]
rs7603388	0.82[CEU][hapmap]
rs7606279	0.82[CEU][hapmap]
rs896884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv1013507	chr2:99729047-99861692	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv535839	chr2:99742621-99793747	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4850896	MRPL30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99742800-99757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:99743200-99757000	Weak transcription	Small Intestine	intestine
3	chr2:99743400-99756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:99743400-99756600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:99743400-99756800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:99750200-99756200	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:99751000-99756600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr2:99751200-99756800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:99751600-99755600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:99751800-99756400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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