Variant report

Variant	rs7608839
Chromosome Location	chr2:191498404-191498405
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191495516..191498480-chr2:191500979..191503398,2	K562	blood:
2	chr2:191497007..191498864-chr2:191517308..191519670,2	MCF-7	breast:
3	chr2:191496922..191501382-chr2:191511728..191515343,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138386	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12470863	0.84[ASN][1000 genomes]
rs12474531	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12476782	0.90[EUR][1000 genomes]
rs12477369	0.86[ASN][1000 genomes]
rs16832765	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs2192010	0.86[ASN][1000 genomes]
rs58568707	0.87[ASN][1000 genomes]
rs60847675	0.82[ASN][1000 genomes]
rs62182885	0.85[ASN][1000 genomes]
rs62182897	0.87[ASN][1000 genomes]
rs62182899	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6711928	0.85[ASN][1000 genomes]
rs7569128	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs7597860	0.84[EUR][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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7608839	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191493000-191501000	Weak transcription	NH-A	brain
2	chr2:191493200-191501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:191493200-191502800	Weak transcription	Right Ventricle	heart
4	chr2:191493400-191501600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:191493400-191512600	Weak transcription	Psoas Muscle	Psoas
6	chr2:191493600-191501000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:191493600-191501600	Weak transcription	Fetal Stomach	stomach
8	chr2:191493800-191499200	Weak transcription	Fetal Heart	heart
9	chr2:191494000-191499200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:191494000-191499400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:191494000-191499400	Weak transcription	A549	lung
12	chr2:191494000-191499600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:191494000-191499600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:191494000-191502000	Weak transcription	Right Atrium	heart
15	chr2:191494800-191498600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:191497000-191503200	Enhancers	Stomach Mucosa	stomach
17	chr2:191497800-191500600	Weak transcription	HMEC	breast
18	chr2:191498000-191499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:191498000-191499600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:191498000-191499600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:191498400-191499800	Enhancers	NHDF-Ad	bronchial

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