Variant report

Variant	rs4403349
Chromosome Location	chr7:116892147-116892148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:116891553-116894301	H1-hESC	embryonic stem cell:	embryo
2	chr7:116892070..116894682-chr7:116895120..116898583,3	K562	blood:

Variant related genes	Relation type
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10235008	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10241082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10247427	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs10247822	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10262178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10272540	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953837	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953838	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11763514	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106894	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2270206	0.87[AFR][1000 genomes]
rs28743073	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs38904	0.85[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs38905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs38906	0.91[ASN][1000 genomes]
rs38907	0.94[ASN][1000 genomes]
rs38908	0.94[ASN][1000 genomes]
rs38910	0.95[ASN][1000 genomes]
rs38911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4263680	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4282508	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4587271	0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4612282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632997	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55712256	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56863440	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57237256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59383324	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59522753	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs66547623	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718736	0.94[CHB][hapmap];0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs718737	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73211959	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7786419	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9656249	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9918524	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9918727	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][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	nsv831108	chr7:116749534-116952011	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv516761	chr7:116888161-116892846	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116888000-116892400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:116888800-116892600	Enhancers	NHDF-Ad	bronchial
3	chr7:116888800-116892600	Enhancers	Osteobl	bone
4	chr7:116889400-116892600	Enhancers	GM12878-XiMat	blood
5	chr7:116889800-116892400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:116890600-116892400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:116890600-116892600	Enhancers	Placenta	Placenta
8	chr7:116890600-116892600	Enhancers	HSMMtube	muscle
9	chr7:116890600-116892600	Enhancers	NH-A	brain
10	chr7:116890800-116892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:116890800-116892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:116890800-116892600	Enhancers	HSMM	muscle
13	chr7:116891000-116892200	Enhancers	NHLF	lung
14	chr7:116891200-116892400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:116891200-116892800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:116891600-116892400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:116891600-116892800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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