Variant report

Variant	rs861855
Chromosome Location	chr22:21986827-21986828
allele	A/C
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	RCOR1	chr22:21986449-21988130	K562	blood:	n/a	n/a
2	POLR2A	chr22:21986317-21987308	K562	blood:	n/a	n/a
3	TBL1XR1	chr22:21986495-21988068	K562	blood:	n/a	n/a
4	MAX	chr22:21986686-21987637	K562	blood:	n/a	chr22:21986753-21986761
5	REST	chr22:21986399-21987368	K562	blood:	n/a	chr22:21986772-21986785 chr22:21986626-21986644
6	MXI1	chr22:21986620-21987508	K562	blood:	n/a	n/a
7	POLR2A	chr22:21986661-21987311	K562	blood:	n/a	n/a
8	IRF1	chr22:21986650-21987281	K562	blood:	n/a	chr22:21986966-21986975 chr22:21986758-21986769 chr22:21986935-21986949
9	POLR2A	chr22:21986664-21987305	HCT-116	colon:	n/a	n/a
10	KAP1	chr22:21986496-21987594	K562	blood:	n/a	n/a
11	HDAC2	chr22:21986289-21988276	K562	blood:	n/a	n/a
12	CTCF	chr22:21986819-21987279	K562	blood:	n/a	n/a
13	TBP	chr22:21986506-21987409	K562	blood:	n/a	n/a
14	SP2	chr22:21986764-21987203	K562	blood:	n/a	n/a
15	MAX	chr22:21986450-21987592	K562	blood:	n/a	chr22:21986753-21986761
16	SP2	chr22:21986372-21988609	K562	blood:	n/a	n/a
17	E2F6	chr22:21986474-21987644	K562	blood:	n/a	chr22:21986939-21986948
18	POLR2A	chr22:21986668-21987239	NB4	blood:	n/a	n/a
19	SMC3	chr22:21986689-21987465	K562	blood:	n/a	n/a
20	ELF1	chr22:21986482-21987588	K562	blood:	n/a	chr22:21986838-21986847
21	CHD2	chr22:21986594-21988038	K562	blood:	n/a	n/a
22	TAL1	chr22:21986664-21987442	K562	blood:	n/a	n/a
23	SPI1	chr22:21986770-21987344	K562	blood:	n/a	n/a
24	ELF1	chr22:21986797-21987265	GM12878	blood:	n/a	chr22:21986838-21986847
25	CTCF	chr22:21986824-21987437	K562	blood:	n/a	n/a
26	YY1	chr22:21986462-21987584	K562	blood:	n/a	chr22:21986939-21986948
27	SETDB1	chr22:21986519-21987677	K562	blood:	n/a	n/a
28	POLR2A	chr22:21986666-21987324	HEK293	kidney:	n/a	n/a
29	MYC	chr22:21986536-21987575	K562	blood:	n/a	chr22:21986753-21986761
30	THAP1	chr22:21986421-21987648	K562	blood:	n/a	n/a
31	POLR2A	chr22:21986631-21987198	ECC-1	luminal epithelium:	n/a	n/a
32	MAZ	chr22:21986513-21987711	K562	blood:	n/a	chr22:21986753-21986761
33	NFYA	chr22:21986558-21987213	K562	blood:	n/a	chr22:21986991-21987001 chr22:21986989-21987007
34	POLR2A	chr22:21986606-21987356	HL-60	blood:	n/a	n/a
35	TRIM28	chr22:21986283-21987719	K562	blood:	n/a	n/a
36	GTF2F1	chr22:21986475-21987604	K562	blood:	n/a	n/a
37	MYC	chr22:21986517-21987621	K562	blood:	n/a	chr22:21986753-21986761
38	POU2F2	chr22:21986770-21987168	GM12878	blood:	n/a	chr22:21987007-21987018 chr22:21987006-21987021 chr22:21987009-21987017 chr22:21987006-21987020 chr22:21986818-21986830 chr22:21987009-21987019 chr22:21987010-21987017 chr22:21987007-21987020 chr22:21987009-21987019 chr22:21987008-21987018 chr22:21987008-21987020 chr22:21987009-21987018 chr22:21987004-21987022
39	POLR2A	chr22:21986662-21987301	K562	blood:	n/a	n/a
40	POLR2A	chr22:21986569-21987409	K562	blood:	n/a	n/a
41	EGR1	chr22:21986509-21987254	K562	blood:	n/a	chr22:21986938-21986948 chr22:21986940-21986953
42	MYC	chr22:21986680-21987533	K562	blood:	n/a	chr22:21986753-21986761
43	CEBPB	chr22:21986187-21987349	K562	blood:	n/a	n/a
44	ZNF384	chr22:21986531-21987623	K562	blood:	n/a	n/a
45	TAF1	chr22:21986535-21987306	K562	blood:	n/a	n/a
46	NFYB	chr22:21986670-21987276	K562	blood:	n/a	chr22:21986991-21987001
47	ARID3A	chr22:21986801-21987259	K562	blood:	n/a	n/a
48	POLR2A	chr22:21986450-21987697	K562	blood:	n/a	n/a
49	ZNF263	chr22:21986528-21988715	K562	blood:	n/a	chr22:21987166-21987175
50	HDAC2	chr22:21986524-21987381	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21349434..21351895-chr22:21984547..21986903,2	K562	blood:
2	chr22:21985943..21988468-chr22:22221482..22223283,2	K562	blood:
3	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
4	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
5	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:

Variant related genes	Relation type
CCDC116	TF binding region
YDJC	TF binding region
ENSG00000099949	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1103229	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs1647711	1.00[CHB][hapmap]
rs17821327	1.00[CHB][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]
rs861818	1.00[CHB][hapmap]
rs861828	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs861829	1.00[CHB][hapmap]
rs861831	1.00[CHB][hapmap]
rs861833	1.00[CHB][hapmap]
rs861844	1.00[CHB][hapmap];0.81[GIH][hapmap]
rs861848	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs861850	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs861851	0.90[EUR][1000 genomes]
rs861853	0.91[EUR][1000 genomes]
rs861854	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]
rs881091	1.00[CHB][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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21984400-21987000	Weak transcription	Lung	lung
2	chr22:21984400-21987400	Weak transcription	HMEC	breast
3	chr22:21984400-21987600	Weak transcription	Fetal Stomach	stomach
4	chr22:21984400-21989800	Weak transcription	Right Ventricle	heart
5	chr22:21984400-21991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:21984400-21993000	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:21984400-21995200	Weak transcription	Fetal Intestine Small	intestine
8	chr22:21984400-21995600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:21984400-21995600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr22:21984400-21995600	Weak transcription	Esophagus	oesophagus
11	chr22:21984400-21995600	Weak transcription	Gastric	stomach
12	chr22:21984400-21995800	Weak transcription	Spleen	Spleen
13	chr22:21984400-21996000	Weak transcription	Aorta	Aorta
14	chr22:21984400-21996200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:21984600-21987200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr22:21984600-21987400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:21984600-21991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:21984600-21995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:21984600-21995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:21984600-21995400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr22:21984600-21995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:21984800-21987600	Weak transcription	NHEK	skin
23	chr22:21984800-21995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:21985000-21987000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr22:21985000-21995200	Weak transcription	GM12878-XiMat	blood
26	chr22:21986000-21990000	Strong transcription	Right Atrium	heart
27	chr22:21986400-21987600	Flanking Active TSS	Dnd41	blood
28	chr22:21986400-21988200	Flanking Active TSS	K562	blood
29	chr22:21986600-21987000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:21986600-21987000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:21986600-21987000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr22:21986600-21987200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:21986600-21987200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr22:21986600-21987200	ZNF genes & repeats	Placenta	Placenta
35	chr22:21986600-21987200	ZNF genes & repeats	Fetal Thymus	thymus
36	chr22:21986600-21987400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:21986600-21987400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:21986600-21987600	Enhancers	Thymus	Thymus
39	chr22:21986600-21987600	Enhancers	HepG2	liver
40	chr22:21986800-21987000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr22:21986800-21987000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:21986800-21987000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr22:21986800-21987400	Enhancers	Primary B cells from peripheral blood	blood

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