Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36861592..36864864-chr5:36865418..36867970,3	MCF-7	breast:
2	chr5:36857086..36859417-chr5:36866349..36868294,2	K562	blood:

Variant related genes	Relation type
ENSG00000272103	Chromatin interaction

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1669445	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs16903458	0.82[AFR][1000 genomes]
rs16903489	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs192668	0.82[AFR][1000 genomes]
rs192669	0.85[AFR][1000 genomes]
rs2047593	0.87[AFR][1000 genomes]
rs289217	0.97[AFR][1000 genomes]
rs291113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2914148	0.95[AFR][1000 genomes]
rs2934797	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs293756	1.00[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs293776	1.00[ASW][hapmap];0.93[YRI][hapmap]
rs298969	0.82[AFR][1000 genomes]
rs468906	0.88[AFR][1000 genomes]
rs6891775	0.85[AFR][1000 genomes]
rs73750903	0.98[AFR][1000 genomes]
rs73750918	0.82[AFR][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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv532133	chr5:36834932-36906436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs291115	FCER2	trans	lymphoblastoid	seeQTL
rs291115	RAB31	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36862400-36874000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:36862600-36873600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:36862600-36874800	Weak transcription	Aorta	Aorta
4	chr5:36862800-36873800	Weak transcription	NH-A	brain
5	chr5:36863000-36874800	Weak transcription	Left Ventricle	heart
6	chr5:36864000-36873400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:36864400-36873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:36864600-36871600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:36864600-36874000	Weak transcription	Fetal Stomach	stomach
10	chr5:36864600-36874000	Weak transcription	Thymus	Thymus
11	chr5:36864800-36873600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:36864800-36874000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:36864800-36874800	Weak transcription	Placenta	Placenta
14	chr5:36865400-36871400	Weak transcription	Fetal Brain Female	brain
15	chr5:36865600-36867200	Weak transcription	Spleen	Spleen
16	chr5:36865800-36873400	Weak transcription	NHDF-Ad	bronchial
17	chr5:36866200-36873600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:36866200-36874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:36866600-36870200	Weak transcription	Primary T cells from cord blood	blood
20	chr5:36866600-36871600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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