Variant report

Variant	rs4951766
Chromosome Location	chr1:211703727-211703728
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	chr1:211694815..211696668-chr1:211701298..211704318,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11119762	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11119764	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119765	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119766	0.84[AMR][1000 genomes]
rs11119767	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119768	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119770	0.81[MEX][hapmap]
rs12073799	0.84[AMR][1000 genomes]
rs12075221	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12403129	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12404900	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12405191	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406030	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406039	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12406055	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408556	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408588	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408812	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1415249	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415250	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17017695	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4951529	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4951530	0.88[EUR][1000 genomes]
rs4951532	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951767	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57527195	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57744575	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58699261	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60879499	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61363325	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61474854	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6662221	0.82[ASN][1000 genomes]
rs6674800	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72649975	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649976	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72649977	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72649978	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7524697	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525277	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7527604	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7527626	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211699400-211705600	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:211699800-211705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:211700200-211705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:211700200-211705800	Enhancers	Fetal Muscle Leg	muscle
6	chr1:211700400-211705600	Enhancers	Adipose Nuclei	Adipose
7	chr1:211700400-211705600	Enhancers	Brain Anterior Caudate	brain
8	chr1:211701000-211704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:211701400-211704000	Enhancers	Hela-S3	cervix
10	chr1:211701400-211704200	Enhancers	GM12878-XiMat	blood
11	chr1:211701600-211703800	Weak transcription	Right Ventricle	heart
12	chr1:211701600-211711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:211702000-211703800	Weak transcription	Right Atrium	heart
15	chr1:211702400-211703800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:211702400-211703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:211702400-211703800	Enhancers	K562	blood
18	chr1:211702400-211704400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:211702600-211704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:211702600-211711600	Weak transcription	Spleen	Spleen
21	chr1:211702800-211703800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:211702800-211705400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:211703000-211705800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:211703200-211704400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:211703200-211704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:211703400-211704600	Weak transcription	Fetal Brain Female	brain
27	chr1:211703400-211705000	Weak transcription	Left Ventricle	heart
28	chr1:211703400-211705400	Weak transcription	Psoas Muscle	Psoas
29	chr1:211703400-211705600	Enhancers	HSMMtube	muscle
30	chr1:211703400-211711600	Weak transcription	Esophagus	oesophagus
31	chr1:211703600-211707400	Weak transcription	Liver	Liver

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