Variant report

Variant	rs6909701
Chromosome Location	chr6:143922918-143922919
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:143916961..143919434-chr6:143921245..143924950,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10484804	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10782290	0.84[EUR][1000 genomes]
rs11155309	0.84[CEU][hapmap]
rs6570567	0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7764231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285501	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9321918	0.87[ASN][1000 genomes]
rs9321921	0.96[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs9321927	0.89[EUR][1000 genomes]
rs9376767	0.87[EUR][1000 genomes]
rs9376768	0.87[EUR][1000 genomes]
rs9376770	0.82[CHB][hapmap]
rs9386039	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9390116	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390117	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9390118	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9390119	0.81[ASN][1000 genomes]
rs9390120	0.87[EUR][1000 genomes]
rs9399449	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9403514	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403515	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403516	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9403517	0.87[EUR][1000 genomes]
rs9484776	0.87[EUR][1000 genomes]
rs9496685	0.86[EUR][1000 genomes]
rs9496686	0.87[EUR][1000 genomes]
rs9496687	0.87[EUR][1000 genomes]
rs9496691	0.87[EUR][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	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6909701	PHACTR2	cis	multi-tissue	Pritchard

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143911200-143929200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:143913200-143928400	Weak transcription	Aorta	Aorta
3	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:143917200-143929000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:143917200-143941400	Weak transcription	Fetal Intestine Large	intestine
6	chr6:143918200-143929200	Weak transcription	Lung	lung
7	chr6:143919200-143923400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:143919800-143930400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:143919800-143930600	Weak transcription	Stomach Mucosa	stomach
10	chr6:143920000-143923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:143920000-143935200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:143920200-143923200	Weak transcription	Adipose Nuclei	Adipose
13	chr6:143920200-143935000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:143920600-143934800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:143922400-143923800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:143922600-143923000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:143922600-143924000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:143922800-143923000	Enhancers	Fetal Muscle Leg	muscle
19	chr6:143922800-143923000	Enhancers	Placenta	Placenta

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