Variant report

Variant	rs227831
Chromosome Location	chr6:44680808-44680809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1022730	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1022731	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12215252	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1338907	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1342640	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1418433	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1832897	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2145826	0.82[ASN][1000 genomes]
rs227837	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227838	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs227841	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs227843	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs227847	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227848	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227849	0.81[EUR][1000 genomes]
rs227850	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227854	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs227855	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6458412	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933373	0.81[ASN][1000 genomes]
rs911524	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9349303	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs9369515	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9381350	0.91[AFR][1000 genomes]
rs9463011	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[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	esv1817071	chr6:44670110-44698829	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs227831	SUPT3H	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44667200-44691000	Weak transcription	Right Atrium	heart
2	chr6:44679400-44681200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:44679400-44683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:44679600-44681600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:44679600-44682400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:44679800-44681200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:44679800-44682200	Enhancers	Fetal Muscle Leg	muscle
8	chr6:44680000-44681200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:44680000-44681400	Enhancers	HSMMtube	muscle
10	chr6:44680200-44681400	Enhancers	HSMM	muscle
11	chr6:44680400-44681000	Enhancers	Fetal Heart	heart
12	chr6:44680600-44681400	Enhancers	Fetal Intestine Large	intestine
13	chr6:44680800-44682200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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