Variant report

No.	Distal block	Cell Line	Cell type
1	chr7:137870483..137872900-chr7:137877532..137880504,2	K562	blood:
2	chr7:137848014..137850255-chr7:137879119..137881766,2	MCF-7	breast:
3	chr7:137875217..137877767-chr7:137878416..137880126,2	K562	blood:

Variant related genes	Relation type
ENSG00000225559	Chromatin interaction
ENSG00000201465	Chromatin interaction

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10268501	0.82[EUR][1000 genomes]
rs1373677	0.81[ASN][1000 genomes]
rs1489634	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1973325	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1973326	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2450848	1.00[JPT][hapmap]
rs2465076	0.81[JPT][hapmap]
rs2718128	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4321918	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61311213	0.83[ASN][1000 genomes]
rs73729501	0.83[ASN][1000 genomes]
rs7785014	0.86[EUR][1000 genomes]
rs7785037	1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794092	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1552583	AKR1B1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137873600-137880200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:137873600-137893800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:137878000-137881600	Enhancers	Lung	lung
4	chr7:137878200-137880600	Enhancers	HepG2	liver
5	chr7:137878600-137884000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:137878800-137880200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:137878800-137880600	Enhancers	Pancreas	Pancrea
8	chr7:137879000-137880200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:137879400-137880000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:137879400-137880000	Enhancers	Liver	Liver
11	chr7:137879400-137880600	Enhancers	Duodenum Mucosa	Duodenum
12	chr7:137879400-137880800	Enhancers	Fetal Lung	lung
13	chr7:137879400-137883400	Enhancers	Placenta	Placenta
14	chr7:137879600-137880200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:137879600-137882800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:137879800-137880400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:137879800-137880400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:137879800-137880400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:137879800-137880600	Enhancers	Primary hematopoietic stem cells	blood
20	chr7:137879800-137882800	Enhancers	Stomach Mucosa	stomach

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