Variant report

Variant	rs13415781
Chromosome Location	chr2:190474499-190474500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190442674..190450266-chr2:190472603..190483585,23	K562	blood:
2	chr2:190470661..190472275-chr2:190474479..190476655,2	MCF-7	breast:
3	chr2:190464599..190467754-chr2:190471803..190474704,3	K562	blood:
4	chr2:190441425..190452696-chr2:190467093..190481176,34	K562	blood:
5	chr2:190461683..190463384-chr2:190472162..190475132,2	K562	blood:
6	chr2:190468548..190471787-chr2:190473209..190476617,5	K562	blood:

Variant related genes	Relation type
ENSG00000138449	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11675304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11684519	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1437887	0.90[TSI][hapmap]
rs3860492	0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs4372939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587662	0.90[TSI][hapmap]

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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13415781	FSIP2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190469600-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:190470800-190477600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:190472400-190474800	Enhancers	Stomach Mucosa	stomach
4	chr2:190472800-190477800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:190473400-190474800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:190473400-190475000	Enhancers	HepG2	liver
7	chr2:190473400-190475000	Enhancers	NHDF-Ad	bronchial
8	chr2:190473400-190475000	Enhancers	Osteobl	bone
9	chr2:190473400-190475200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:190473400-190475400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:190473400-190476800	Enhancers	Hela-S3	cervix
12	chr2:190473600-190475200	Enhancers	NHLF	lung
13	chr2:190473800-190475000	Enhancers	Fetal Lung	lung
14	chr2:190473800-190478000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:190474000-190474800	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:190474000-190475400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:190474000-190476000	Enhancers	K562	blood
18	chr2:190474000-190477400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:190474200-190474600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:190474200-190474800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:190474200-190474800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:190474400-190474600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:190474400-190474600	Enhancers	Ovary	ovary
24	chr2:190474400-190474600	Enhancers	A549	lung
25	chr2:190474400-190474800	Enhancers	Placenta	Placenta
26	chr2:190474400-190477400	Weak transcription	HSMM	muscle
27	chr2:190474400-190477400	Weak transcription	NHEK	skin

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