Variant report

Variant	rs861836
Chromosome Location	chr22:22018988-22018989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr22:22018803-22021647	K562	blood:	n/a	chr22:22020621-22020630 chr22:22020620-22020633
2	POLR2A	chr22:22018953-22019308	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
2	chr22:22018767..22021764-chr22:22305458..22307396,2	K562	blood:
3	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
4	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
5	chr22:21995515..21997247-chr22:22018437..22020828,2	MCF-7	breast:
6	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
7	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
8	chr22:21355013..21357927-chr22:22018389..22021827,3	K562	blood:
9	chr22:22018198..22021286-chr22:22305755..22308523,3	K562	blood:

No data

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000128228	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs108816	0.88[EUR][1000 genomes]
rs11089647	0.82[EUR][1000 genomes]
rs11089651	0.91[EUR][1000 genomes]
rs11703445	0.85[EUR][1000 genomes]
rs11705530	0.85[EUR][1000 genomes]
rs1210397	0.85[ASN][1000 genomes]
rs1811070	0.85[EUR][1000 genomes]
rs2034570	0.85[EUR][1000 genomes]
rs2034572	0.85[EUR][1000 genomes]
rs2081431	0.81[EUR][1000 genomes]
rs2278118	0.85[EUR][1000 genomes]
rs2840341	0.85[EUR][1000 genomes]
rs373001	0.95[ASN][1000 genomes]
rs3788329	0.92[EUR][1000 genomes]
rs384262	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs388371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs403642	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs433704	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs439760	0.92[ASN][1000 genomes]
rs446142	0.88[ASN][1000 genomes]
rs449597	0.92[ASN][1000 genomes]
rs450469	0.96[ASN][1000 genomes]
rs45502092	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4821168	0.85[EUR][1000 genomes]
rs5998956	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62235077	0.81[EUR][1000 genomes]
rs62235078	0.87[EUR][1000 genomes]
rs62235097	0.84[EUR][1000 genomes]
rs62235098	0.85[EUR][1000 genomes]
rs62235099	0.84[EUR][1000 genomes]
rs62235101	0.85[EUR][1000 genomes]
rs7286619	0.85[EUR][1000 genomes]
rs7291614	0.85[EUR][1000 genomes]
rs741617	0.85[EUR][1000 genomes]
rs8142802	0.83[EUR][1000 genomes]
rs9941935	0.82[AMR][1000 genomes];0.93[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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
15	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
16	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
2	chr22:22012800-22019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:22012800-22019600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:22012800-22019800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:22013000-22019400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:22013000-22019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:22013000-22019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:22013200-22019400	Weak transcription	Dnd41	blood
9	chr22:22014800-22019400	Weak transcription	K562	blood
10	chr22:22015800-22019600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:22016600-22019400	Weak transcription	Right Atrium	heart

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