Variant report

Variant	rs7742234
Chromosome Location	chr6:164149175-164149176
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	chr6:164148787..164150602-chr6:164160193..164162376,2	K562	blood:
2	chr6:164147443..164149403-chr6:164151642..164153523,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10945917	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1465134	0.89[AMR][1000 genomes]
rs1885957	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1885958	0.82[ASN][1000 genomes]
rs4709006	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709007	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709008	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709009	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709010	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4709748	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4709754	0.84[AMR][1000 genomes]
rs6455915	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455916	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6931768	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7741441	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7765631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7766259	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7766449	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9295229	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9347782	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9364700	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365603	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9458892	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7742234	RNASET2	cis	cerebellum	SCAN
rs7742234	FGFR1OP	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164131000-164151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:164133600-164151400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:164134400-164154200	Weak transcription	Right Atrium	heart
4	chr6:164146200-164150200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:164146200-164150800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:164146400-164151600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:164146400-164151600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:164146400-164158000	Weak transcription	Spleen	Spleen
9	chr6:164146600-164151400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:164146800-164150200	Weak transcription	K562	blood
11	chr6:164147200-164149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:164147200-164154400	Weak transcription	Lung	lung
13	chr6:164148400-164150000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:164148400-164151400	Enhancers	Brain Germinal Matrix	brain
15	chr6:164148600-164149200	Enhancers	Primary T cells from cord blood	blood
16	chr6:164148800-164154800	Enhancers	Fetal Heart	heart
17	chr6:164149000-164149800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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