Variant report

Variant	rs991356
Chromosome Location	chr6:120060051-120060052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119669713..119672817-chr6:120059087..120062247,3	K562	blood:
2	chr6:119669713..119671719-chr6:120059776..120062247,2	K562	blood:
3	chr6:119669232..119674283-chr6:120058863..120061858,5	MCF-7	breast:
4	chr6:120059793..120063452-chr6:120063647..120067024,5	K562	blood:
5	chr6:120048345..120051007-chr6:120058358..120060686,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10484866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10872185	0.81[AFR][1000 genomes]
rs11153842	0.83[CEU][hapmap]
rs11153843	0.85[EUR][1000 genomes]
rs11153846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757432	0.85[EUR][1000 genomes]
rs12202174	0.85[EUR][1000 genomes]
rs12204573	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12205746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207073	0.85[EUR][1000 genomes]
rs12211120	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12211678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212825	0.96[AFR][1000 genomes]
rs12213166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194523	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13202412	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13209823	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417843	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17174818	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17254459	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1884252	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945648	0.85[EUR][1000 genomes]
rs57243130	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914520	0.85[EUR][1000 genomes]
rs6919761	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6927271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731487	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757952	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285434	0.89[CEU][hapmap]
rs9320701	0.90[CEU][hapmap]
rs9387674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481956	0.85[EUR][1000 genomes]
rs9489782	0.85[EUR][1000 genomes]
rs9489787	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1028580	chr6:120032073-120095538	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120057000-120060800	Enhancers	Fetal Brain Male	brain
2	chr6:120058000-120060600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:120059400-120060200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:120059400-120061200	Enhancers	Fetal Brain Female	brain
5	chr6:120059600-120060200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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