Variant report

Variant	rs227837
Chromosome Location	chr6:44683123-44683124
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	chr6:44681475..44683976-chr6:44685935..44688011,2	K562	blood:
2	chr6:44681103..44683539-chr6:44690355..44693257,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1022730	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1022731	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12215252	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1338907	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1342640	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1418433	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1832897	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2145826	0.86[AMR][1000 genomes]
rs227831	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227841	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs227843	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs227847	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs227848	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs227849	0.85[CEU][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs227850	0.92[CEU][hapmap];0.83[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs227851	0.92[CEU][hapmap];0.83[CHD][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs227855	0.92[CEU][hapmap];0.93[YRI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3799978	0.80[AMR][1000 genomes]
rs57020561	0.82[AMR][1000 genomes]
rs6458412	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs911524	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9349303	0.81[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs9369515	0.85[AMR][1000 genomes]
rs9381350	0.86[AFR][1000 genomes]
rs9463011	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9472339	0.84[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	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
rs227837	SUPT3H	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44667200-44691000	Weak transcription	Right Atrium	heart
2	chr6:44679400-44683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:44682200-44683800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr6:44682200-44684000	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr6:44682400-44683600	Bivalent Enhancer	Fetal Stomach	stomach
6	chr6:44682400-44691000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:44682600-44683400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:44682800-44683600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:44683000-44683200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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