Variant report

Variant	rs6540688
Chromosome Location	chr1:211703260-211703261
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: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11804725	0.81[AMR][1000 genomes]
rs13375224	1.00[AMR][1000 genomes]
rs13376262	0.94[AMR][1000 genomes]
rs58571560	1.00[AMR][1000 genomes]
rs59919613	1.00[AMR][1000 genomes]
rs74137706	1.00[AMR][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:33 , 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	chr1:211702400-211703400	Enhancers	Esophagus	oesophagus
16	chr1:211702400-211703400	Enhancers	Left Ventricle	heart
17	chr1:211702400-211703400	Enhancers	Psoas Muscle	Psoas
18	chr1:211702400-211703600	Enhancers	Liver	Liver
19	chr1:211702400-211703600	Enhancers	Brain Angular Gyrus	brain
20	chr1:211702400-211703800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:211702400-211703800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:211702400-211703800	Enhancers	K562	blood
23	chr1:211702400-211704400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:211702600-211703400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:211702600-211704000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:211702600-211711600	Weak transcription	Spleen	Spleen
27	chr1:211702800-211703800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:211702800-211705400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:211703000-211703400	Flanking Active TSS	HSMMtube	muscle
30	chr1:211703000-211705800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:211703200-211703400	Enhancers	Fetal Brain Female	brain
32	chr1:211703200-211704400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:211703200-211704600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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