Variant report

Variant	rs861854
Chromosome Location	chr22:21988524-21988525
allele	C/T
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	SP2	chr22:21986372-21988609	K562	blood:	n/a	n/a
2	HEY1	chr22:21988242-21988688	K562	blood:	n/a	n/a
3	THAP1	chr22:21988222-21989157	K562	blood:	n/a	n/a
4	ZNF263	chr22:21986528-21988715	K562	blood:	n/a	chr22:21987166-21987175
5	MAX	chr22:21986282-21988849	K562	blood:	n/a	chr22:21987993-21988002 chr22:21986753-21986761
6	HMGN3	chr22:21988507-21988753	K562	blood:	n/a	n/a
7	TEAD4	chr22:21986268-21988542	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	chr22:21987077..21989500-chr22:22144742..22147605,2	K562	blood:

Variant related genes	Relation type
YDJC	TF binding region
ENSG00000273342	Chromatin interaction
ENSG00000200985	Chromatin interaction
ENSG00000128228	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1103229	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs1647711	1.00[CHB][hapmap]
rs17821327	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs2876980	1.00[CHB][hapmap]
rs710171	1.00[CHB][hapmap]
rs717121	1.00[CHB][hapmap]
rs8135616	1.00[CHB][hapmap]
rs8135758	1.00[CHB][hapmap]
rs861787	1.00[ASN][1000 genomes]
rs861818	1.00[CHB][hapmap]
rs861828	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs861829	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs861831	1.00[CHB][hapmap]
rs861833	1.00[CHB][hapmap];0.83[GIH][hapmap]
rs861844	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs861848	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861849	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861851	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861853	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861855	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs861858	1.00[ASN][1000 genomes]
rs881091	1.00[CHB][hapmap];0.83[GIH][hapmap]

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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs861854	YPEL1	cis	parietal	SCAN
rs861854	PPIL2	cis	cerebellum	SCAN
rs861854	DGCR14	cis	parietal	SCAN
rs861854	C22orf43	cis	cerebellum	SCAN
rs861854	PEX26	cis	cerebellum	SCAN
rs861854	MGC16703	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21984400-21989800	Weak transcription	Right Ventricle	heart
2	chr22:21984400-21991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:21984400-21993000	Weak transcription	Fetal Muscle Leg	muscle
4	chr22:21984400-21995200	Weak transcription	Fetal Intestine Small	intestine
5	chr22:21984400-21995600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:21984400-21995600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr22:21984400-21995600	Weak transcription	Esophagus	oesophagus
8	chr22:21984400-21995600	Weak transcription	Gastric	stomach
9	chr22:21984400-21995800	Weak transcription	Spleen	Spleen
10	chr22:21984400-21996000	Weak transcription	Aorta	Aorta
11	chr22:21984400-21996200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr22:21984600-21991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr22:21984600-21995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:21984600-21995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:21984600-21995400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr22:21984600-21995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:21984800-21995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:21985000-21995200	Weak transcription	GM12878-XiMat	blood
19	chr22:21986000-21990000	Strong transcription	Right Atrium	heart
20	chr22:21987000-21995600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr22:21987000-21995800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:21987200-21995600	Weak transcription	Placenta	Placenta
23	chr22:21987400-21988800	Enhancers	HMEC	breast
24	chr22:21987600-21989400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr22:21987600-21989600	Weak transcription	HepG2	liver
26	chr22:21987600-21991600	Strong transcription	Fetal Stomach	stomach
27	chr22:21987600-21993200	Weak transcription	Thymus	Thymus
28	chr22:21988000-21989200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:21988200-21992200	Weak transcription	K562	blood
30	chr22:21988400-21995400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:21988400-21995600	Weak transcription	NHEK	skin

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