Variant report

No.	Distal block	Cell Line	Cell type
1	chr11:34809055..34812032-chr11:34846075..34848426,2	K562	blood:
2	chr11:34805559..34807304-chr11:34808633..34811203,2	K562	blood:
3	chr11:34660366..34662512-chr11:34808028..34810446,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10047488	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032869	0.92[AFR][1000 genomes]
rs11821869	0.90[EUR][1000 genomes]
rs12286538	1.00[CEU][hapmap]
rs12293733	0.82[CEU][hapmap]
rs16926116	0.93[EUR][1000 genomes]
rs3763937	1.00[CEU][hapmap]
rs3920862	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55774143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947894	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56115421	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59115636	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60196466	0.98[EUR][1000 genomes]
rs60896094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484731	0.83[AFR][1000 genomes]
rs6484746	1.00[CEU][hapmap]
rs7115716	0.80[AFR][1000 genomes]
rs7124912	0.98[EUR][1000 genomes]
rs7483005	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931454	1.00[CEU][hapmap]
rs7938962	1.00[CEU][hapmap]
rs7941930	1.00[CEU][hapmap]
rs978167	0.98[EUR][1000 genomes];1.00[ASN][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	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv832118	chr11:34743123-34903951	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv897214	chr11:34764251-34821948	Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12291335	APIP	cis	Esophagus Mucosa	GTEx
rs12291335	APIP	cis	Adipose Subcutaneous	GTEx
rs12291335	APIP	cis	Skin Sun Exposed Lower leg	GTEx
rs12291335	APIP	cis	lung	GTEx
rs12291335	APIP	cis	Esophagus Muscularis	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34792200-34811000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34802800-34811200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:34804000-34811000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:34805800-34812800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:34806000-34814000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:34806400-34812200	Weak transcription	Stomach Mucosa	stomach
7	chr11:34806600-34812800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:34807000-34810000	Weak transcription	HepG2	liver
9	chr11:34808600-34809600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:34808600-34809600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:34808800-34809600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:34808800-34809600	Enhancers	NHDF-Ad	bronchial
13	chr11:34809000-34809600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:34809000-34811200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:34809200-34809600	Enhancers	Fetal Lung	lung
16	chr11:34809200-34811400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:34809400-34809800	Weak transcription	NHLF	lung

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