Variant report

Variant	rs1977876
Chromosome Location	chr1:211702179-211702180
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	chr1:211694815..211696668-chr1:211701298..211704318,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1036961	0.88[AFR][1000 genomes]
rs11119763	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11119769	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12405155	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4951530	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4951531	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951768	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60707186	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6662221	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6679498	0.96[AMR][1000 genomes];0.96[EUR][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211689400-211715000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211698200-211702400	Weak transcription	Esophagus	oesophagus
3	chr1:211698400-211702400	Weak transcription	Liver	Liver
4	chr1:211699000-211702800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:211699400-211705600	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:211699800-211702200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:211699800-211702400	Weak transcription	K562	blood
8	chr1:211699800-211705600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:211700200-211702600	Enhancers	Spleen	Spleen
10	chr1:211700200-211705200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:211700200-211705800	Enhancers	Fetal Muscle Leg	muscle
12	chr1:211700400-211702400	Enhancers	Fetal Thymus	thymus
13	chr1:211700400-211703200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:211700400-211705600	Enhancers	Adipose Nuclei	Adipose
15	chr1:211700400-211705600	Enhancers	Brain Anterior Caudate	brain
16	chr1:211701000-211704400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:211701200-211702400	Enhancers	Lung	lung
18	chr1:211701400-211702200	Weak transcription	Aorta	Aorta
19	chr1:211701400-211702600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:211701400-211703200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr1:211701400-211704000	Enhancers	Hela-S3	cervix
22	chr1:211701400-211704200	Enhancers	GM12878-XiMat	blood
23	chr1:211701600-211702800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:211701600-211703800	Weak transcription	Right Ventricle	heart
25	chr1:211701600-211711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:211701800-211703000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:211701800-211712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:211702000-211702400	Weak transcription	Left Ventricle	heart
29	chr1:211702000-211703800	Weak transcription	Right Atrium	heart

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