Variant report

Variant	rs433704
Chromosome Location	chr22:22014922-22014923
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:22014363-22014971	K562	blood:	n/a	n/a
2	POLR2A	chr22:22014483-22015820	K562	blood:	n/a	n/a
3	POLR2A	chr22:22013951-22015320	K562	blood:	n/a	n/a
4	POLR2A	chr22:22013287-22015703	K562	blood:	n/a	n/a
5	CTCF	chr22:22014275-22015006	K562	blood:	n/a	n/a
6	POLR2A	chr22:22014757-22014934	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:22013383-22015315	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr22:22014490-22015136	K562	blood:	n/a	chr22:22015008-22015016
9	POLR2A	chr22:22014500-22015149	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr22:22005031-22015259	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr22:22009886-22015240	PFSK-1	brain:	n/a	n/a
12	NR2F2	chr22:22013886-22015145	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22011842..22015116-chr22:22321184..22324268,3	K562	blood:
2	chr22:22014103..22015156-chr22:22292881..22293545,3	K562	blood:
3	chr22:22012894..22015753-chr22:22286806..22288838,2	K562	blood:
4	chr22:22014013..22016208-chr22:22290767..22292528,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-2	chr22:22014128-22014936	NONHSAT083705

No data

Variant related genes	Relation type
ENSG00000272954	TF binding region
ENSG00000100038	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10009	0.89[CEU][hapmap]
rs1045681	0.92[CEU][hapmap]
rs108816	0.84[CEU][hapmap]
rs11089647	0.81[CEU][hapmap]
rs11089651	0.81[EUR][1000 genomes]
rs11703445	0.88[CEU][hapmap]
rs1210407	0.81[ASN][1000 genomes]
rs1860	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs35445502	0.83[ASN][1000 genomes]
rs374659	0.83[JPT][hapmap]
rs3747094	0.92[CEU][hapmap]
rs3788329	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs3804071	0.81[CEU][hapmap]
rs381713	0.83[JPT][hapmap]
rs384262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs388113	0.83[JPT][hapmap]
rs388371	0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs390720	0.81[ASN][1000 genomes]
rs391324	0.83[ASN][1000 genomes]
rs394073	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs395006	0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs402548	0.81[ASN][1000 genomes]
rs403642	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs403865	0.81[ASN][1000 genomes]
rs409796	0.82[ASN][1000 genomes]
rs412596	0.83[JPT][hapmap]
rs416661	0.81[JPT][hapmap]
rs428595	0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs429623	0.81[ASN][1000 genomes]
rs443845	0.82[ASN][1000 genomes]
rs447001	0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs452649	0.81[JPT][hapmap]
rs45502092	0.84[EUR][1000 genomes]
rs5998956	0.82[EUR][1000 genomes]
rs710172	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs861836	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9941935	0.88[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
14	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
15	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
16	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
17	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	chr22:22014400-22016600	Strong transcription	Right Atrium	heart
10	chr22:22014800-22015000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:22014800-22019400	Weak transcription	K562	blood

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