Variant report

Variant	rs2236868
Chromosome Location	chr1:169583996-169583997
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	chr1:169580882..169585091-chr1:169587132..169592638,6	K562	blood:

Variant related genes	Relation type
ENSG00000174175	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10919204	0.86[ASN][1000 genomes]
rs10919207	0.86[ASN][1000 genomes]
rs10919208	0.80[ASN][1000 genomes]
rs10919216	0.82[ASN][1000 genomes]
rs10919219	0.86[ASN][1000 genomes]
rs11487513	0.86[ASN][1000 genomes]
rs12067152	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12076747	0.86[ASN][1000 genomes]
rs12081319	0.86[ASN][1000 genomes]
rs12087424	0.86[ASN][1000 genomes]
rs12116948	0.82[ASN][1000 genomes]
rs12116974	0.81[ASN][1000 genomes]
rs12123695	0.86[ASN][1000 genomes]
rs12126695	0.84[ASN][1000 genomes]
rs12131631	0.86[ASN][1000 genomes]
rs12140128	0.81[ASN][1000 genomes]
rs1569474	0.81[ASN][1000 genomes]
rs1569476	0.87[ASN][1000 genomes]
rs1800805	0.92[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1800808	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs2235302	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235303	0.85[ASN][1000 genomes]
rs2235305	0.84[ASN][1000 genomes]
rs28409897	0.86[ASN][1000 genomes]
rs3917655	0.91[ASN][1000 genomes]
rs3917657	0.92[ASN][1000 genomes]
rs3917675	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3917681	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3917682	0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3917702	0.90[ASN][1000 genomes]
rs3917709	0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3917727	0.93[ASW][hapmap]
rs3917729	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs58647626	0.86[ASN][1000 genomes]
rs60035985	0.86[ASN][1000 genomes]
rs6131	0.93[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs66920835	0.87[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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2236868	F5	cis	parietal	SCAN
rs2236868	FAM78B	cis	parietal	SCAN
rs2236868	FMO6P	cis	cerebellum	SCAN
rs2236868	C1orf156	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:169576600-169585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:169578800-169584200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169579800-169587600	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169580200-169584200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:169581000-169585400	Weak transcription	Placenta	Placenta
7	chr1:169581600-169587600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:169582000-169584800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:169582000-169585800	Enhancers	Primary T cells from cord blood	blood
10	chr1:169582400-169586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:169583000-169584400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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