Variant report

Variant	rs11705259
Chromosome Location	chr22:21990823-21990824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr22:21990547-21990968	K562	blood:	n/a	n/a
2	MAX	chr22:21990738-21991075	K562	blood:	n/a	n/a
3	MAX	chr22:21990219-21991177	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:21988073..21992756-chr22:21993885..21998073,8	MCF-7	breast:
2	chr20:47899469..47901979-chr22:21989412..21992304,2	K562	blood:

Variant related genes	Relation type
ENSG00000273342	TF binding region
ENSG00000128228	Chromatin interaction
ENSG00000273342	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11705317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs128477	1.00[MEX][hapmap]
rs131666	1.00[AFR][1000 genomes]
rs2236642	0.94[GIH][hapmap];0.84[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs34035987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34592211	1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35113423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35844718	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs372108	1.00[AFR][1000 genomes]
rs3747091	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs388113	1.00[AFR][1000 genomes]
rs390720	1.00[AFR][1000 genomes]
rs391324	1.00[AFR][1000 genomes]
rs394073	1.00[AFR][1000 genomes]
rs402225	1.00[AFR][1000 genomes]
rs416661	1.00[MKK][hapmap]
rs428595	1.00[AFR][1000 genomes]
rs436570	1.00[AFR][1000 genomes]
rs443845	1.00[AFR][1000 genomes]
rs451422	1.00[AFR][1000 genomes]
rs452649	1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs459265	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs467181	1.00[MEX][hapmap]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861817	1.00[MKK][hapmap]
rs861819	1.00[AFR][1000 genomes]
rs861822	1.00[AFR][1000 genomes]
rs9607209	1.00[MKK][hapmap]
rs9607210	1.00[MKK][hapmap]
rs9609947	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv516806	chr22:21982892-21997070	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
15	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
16	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21984400-21991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:21984400-21993000	Weak transcription	Fetal Muscle Leg	muscle
3	chr22:21984400-21995200	Weak transcription	Fetal Intestine Small	intestine
4	chr22:21984400-21995600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:21984400-21995600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:21984400-21995600	Weak transcription	Esophagus	oesophagus
7	chr22:21984400-21995600	Weak transcription	Gastric	stomach
8	chr22:21984400-21995800	Weak transcription	Spleen	Spleen
9	chr22:21984400-21996000	Weak transcription	Aorta	Aorta
10	chr22:21984400-21996200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr22:21984600-21991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:21984600-21995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:21984600-21995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:21984600-21995400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:21984600-21995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:21984800-21995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:21985000-21995200	Weak transcription	GM12878-XiMat	blood
18	chr22:21987000-21995600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:21987000-21995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:21987200-21995600	Weak transcription	Placenta	Placenta
21	chr22:21987600-21991600	Strong transcription	Fetal Stomach	stomach
22	chr22:21987600-21993200	Weak transcription	Thymus	Thymus
23	chr22:21988200-21992200	Weak transcription	K562	blood
24	chr22:21988400-21995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:21988400-21995600	Weak transcription	NHEK	skin
26	chr22:21990000-21995600	Weak transcription	Right Atrium	heart
27	chr22:21990200-21991200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:21990400-21991000	Bivalent Enhancer	HepG2	liver
29	chr22:21990400-21991200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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