Variant report

Variant	rs828841
Chromosome Location	chr2:74355312-74355313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74346232..74350107-chr2:74352488..74356808,10	K562	blood:
2	chr2:74351961..74355354-chr2:74404780..74407747,5	K562	blood:
3	chr2:74351961..74355354-chr2:74404780..74407747,4	K562	blood:
4	chr2:74347598..74349193-chr2:74354640..74357275,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000114978	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1026150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1095969	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1095970	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12465641	0.86[JPT][hapmap]
rs12996870	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13025827	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1667615	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1667616	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1667622	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723283	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1723284	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1723290	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2122290	0.86[JPT][hapmap]
rs2280642	0.86[JPT][hapmap]
rs2421753	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3099822	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3099823	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108161	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108162	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34284832	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35955502	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4429500	0.82[JPT][hapmap]
rs4452177	0.85[JPT][hapmap]
rs6707619	0.83[JPT][hapmap]
rs6758220	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs702463	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs702464	0.96[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs828843	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828845	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828846	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828847	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828848	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs828850	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs828864	0.87[ASN][1000 genomes]
rs828865	0.87[ASN][1000 genomes]
rs828867	0.90[JPT][hapmap]
rs828897	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs828898	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs828901	0.96[ASN][1000 genomes]

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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74348000-74357400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:74348200-74360400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
4	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix
5	chr2:74348800-74360400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:74350800-74360400	Weak transcription	Brain Substantia Nigra	brain
7	chr2:74351200-74358400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:74353400-74360400	Weak transcription	Dnd41	blood
9	chr2:74353600-74360400	Weak transcription	A549	lung
10	chr2:74354200-74359400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:74354400-74373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:74354800-74360400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:74355200-74373800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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