Variant report

Variant	rs827016
Chromosome Location	chr4:8343969-8343970
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1017810	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1017811	0.91[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1017812	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12650298	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13144781	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1626381	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678311	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678317	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678318	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678322	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1720008	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1720010	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1720011	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1720018	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2127294	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447861	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6447863	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7686238	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7690955	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs827018	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827019	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs827021	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs899492	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8337400-8344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:8338200-8344800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:8341800-8346000	Enhancers	Fetal Muscle Trunk	muscle
4	chr4:8341800-8346000	Enhancers	Fetal Stomach	stomach
5	chr4:8341800-8346400	Enhancers	Ovary	ovary
6	chr4:8342000-8345800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr4:8342000-8346400	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr4:8342000-8348800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:8342200-8344200	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:8342200-8344200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:8342200-8344600	Enhancers	Brain Anterior Caudate	brain
12	chr4:8342200-8344600	Enhancers	Brain Hippocampus Middle	brain
13	chr4:8342200-8344600	Enhancers	Brain Substantia Nigra	brain
14	chr4:8342200-8345600	Enhancers	Colon Smooth Muscle	Colon
15	chr4:8342400-8344000	Enhancers	Rectal Smooth Muscle	rectum
16	chr4:8342400-8344600	Enhancers	Left Ventricle	heart
17	chr4:8342400-8344800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:8342400-8345000	Enhancers	Right Atrium	heart
19	chr4:8342600-8344400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:8342800-8344200	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:8342800-8344400	Weak transcription	Fetal Intestine Small	intestine
22	chr4:8342800-8348800	Weak transcription	Spleen	Spleen
23	chr4:8342800-8352800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:8343000-8345000	Weak transcription	HSMM	muscle
25	chr4:8343600-8345600	Weak transcription	Fetal Heart	heart
26	chr4:8343800-8344400	Weak transcription	Right Ventricle	heart
27	chr4:8343800-8344600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:8343800-8344800	Weak transcription	Fetal Lung	lung
29	chr4:8343800-8345600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:8343800-8348200	Weak transcription	Brain Angular Gyrus	brain

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