Variant report

Variant	rs977441
Chromosome Location	chr1:209771744-209771745
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119310	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119311	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2003682	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2076223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076224	0.91[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.84[MEX][hapmap];0.98[MKK][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2356933	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4433397	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4556360	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6540544	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6683256	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6695896	0.86[CHB][hapmap]
rs713073	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs713074	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736137	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7518521	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7522730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7528476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7533785	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs7538805	0.86[EUR][1000 genomes]
rs760832	0.87[CHB][hapmap];0.80[CHD][hapmap]
rs926386	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9429819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9430004	0.91[CHB][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209760600-209776400	Weak transcription	Fetal Lung	lung
2	chr1:209764200-209776600	Weak transcription	Ovary	ovary
3	chr1:209764200-209780400	Weak transcription	Fetal Brain Male	brain
4	chr1:209764600-209791200	Weak transcription	Brain Anterior Caudate	brain
5	chr1:209765400-209776800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:209768000-209773800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:209769600-209776400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:209769800-209781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:209769800-209781200	Weak transcription	Spleen	Spleen
10	chr1:209770800-209771800	Enhancers	HUVEC	blood vessel
11	chr1:209771000-209780600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:209771000-209787600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:209771200-209773400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:209771200-209773400	Weak transcription	NHEK	skin
15	chr1:209771400-209771800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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