Variant report

Variant	rs253638
Chromosome Location	chr5:9094295-9094296
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12189232	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs12519438	0.85[CEU][hapmap]
rs168817	0.85[CEU][hapmap]
rs1904454	0.85[CEU][hapmap]
rs2456237	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs253633	0.89[CEU][hapmap]
rs253634	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs253635	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs253636	0.80[EUR][1000 genomes]
rs253639	0.80[EUR][1000 genomes]
rs253644	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253645	0.89[CEU][hapmap]
rs253646	0.89[CEU][hapmap];0.87[TSI][hapmap]
rs253649	0.85[CEU][hapmap]
rs253652	0.85[CEU][hapmap]
rs6862429	0.85[CEU][hapmap]
rs6863413	0.96[CEU][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs886509	0.81[CEU][hapmap];0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830200	chr5:9081023-9269495	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv880683	chr5:9091164-9170323	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9040800-9122000	Weak transcription	Colonic Mucosa	Colon
2	chr5:9065400-9115800	Weak transcription	Aorta	Aorta
3	chr5:9066000-9106600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:9066600-9107000	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:9066600-9107400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:9067000-9104800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:9070200-9095400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:9070200-9104800	Weak transcription	Fetal Stomach	stomach
9	chr5:9070200-9104800	Weak transcription	NHLF	lung
10	chr5:9070200-9107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:9082400-9107200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:9086000-9104800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:9086000-9104800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:9086200-9115000	Weak transcription	Fetal Intestine Small	intestine
15	chr5:9087200-9105600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:9089400-9099800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:9090800-9095800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:9092800-9115000	Weak transcription	Fetal Heart	heart
19	chr5:9093400-9107200	Weak transcription	Liver	Liver
20	chr5:9093800-9095400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:9094000-9106600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:9094200-9099800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:9094200-9115000	Weak transcription	Pancreas	Pancrea

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