Variant report

Variant	rs56249302
Chromosome Location	chr2:179066661-179066662
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179060830..179065562-chr2:179066300..179070960,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10185989	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334090	1.00[AMR][1000 genomes]
rs55637764	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55722360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55729109	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55919122	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56158211	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179060600-179069800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:179060800-179070000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:179060800-179076200	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:179061000-179069200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:179061000-179069800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:179061000-179070000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:179061000-179070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:179061200-179068800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:179061400-179069800	Weak transcription	HMEC	breast
10	chr2:179061600-179070000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:179062200-179069200	Weak transcription	Fetal Brain Male	brain
12	chr2:179062400-179069400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:179062800-179068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:179062800-179069600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:179064600-179069600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:179065000-179069000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:179065000-179069400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:179066400-179066800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:179066400-179067200	Enhancers	K562	blood
20	chr2:179066600-179068800	Weak transcription	Psoas Muscle	Psoas

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