Variant report

Variant	rs728671
Chromosome Location	chr2:234891055-234891056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234889048..234890951-chr2:234890976..234893770,2	K562	blood:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1016062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691335	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17868396	1.00[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs728671	ALPI	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234882400-234892200	Enhancers	NHLF	lung
2	chr2:234886200-234891600	Weak transcription	Fetal Brain Male	brain
3	chr2:234886200-234898000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234886200-234898200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:234886400-234892400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234886400-234901200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:234887800-234891800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:234887800-234892600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:234888200-234892800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:234888600-234892800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:234888800-234891400	Enhancers	NHDF-Ad	bronchial
12	chr2:234889200-234892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:234889600-234892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:234889600-234892200	Enhancers	HSMM	muscle
15	chr2:234889600-234892200	Enhancers	NHEK	skin
16	chr2:234889800-234891200	Enhancers	NH-A	brain
17	chr2:234889800-234891600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:234890000-234892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:234890000-234892000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:234890000-234892600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:234890600-234891400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:234890600-234891400	Enhancers	A549	lung
23	chr2:234890800-234891200	Flanking Active TSS	Liver	Liver
24	chr2:234890800-234891400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:234890800-234891400	Flanking Active TSS	Osteobl	bone
26	chr2:234890800-234891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:234890800-234891800	Flanking Active TSS	HSMMtube	muscle
28	chr2:234890800-234892000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:234891000-234891200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:234891000-234891200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:234891000-234891200	Enhancers	HMEC	breast
32	chr2:234891000-234891400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:234891000-234891600	Enhancers	HepG2	liver
34	chr2:234891000-234892400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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