Variant report

Variant	rs9617874
Chromosome Location	chr22:20284605-20284606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20284604-20284654	ProgFib	skin:	n/a
2	chr22:20284604-20284654	Jurkat	blood:	n/a
3	chr22:20284604-20284654	HNPCEpiC	eye:	n/a
4	chr22:20284604-20284654	Caco-2	colon:	n/a
5	chr22:20284604-20284654	AG09309	skin:	n/a
6	chr22:20284604-20284654	SKMC	muscle:	n/a
7	chr22:20284604-20284654	SK-N-SH	brain:	n/a
8	chr22:20284604-20284654	HEK293	kidney:	embryo
9	chr22:20284604-20284654	HRCEpiC	kidney:	n/a
10	chr22:20284604-20284654	Hepatocyte	liver:	n/a
11	chr22:20284604-20284654	HUVEC	blood vessel:	n/a
12	chr22:20284604-20284654	H1-hESC	embryonic stem cell:	embryo
13	chr22:20284604-20284654	HMEC	breast:	n/a
14	chr22:20284604-20284654	K562	blood:	n/a
15	chr22:20284604-20284654	Hela-S3	cervix:	n/a
16	chr22:20284604-20284654	RPTEC	kidney:	n/a
17	chr22:20284604-20284654	MCF-7	breast:	n/a
18	chr22:20284604-20284654	PFSK-1	brain:	n/a
19	chr22:20284604-20284654	MCF10A-Er-Src	breast:	n/a
20	chr22:20284604-20284654	PANC-1	pancreas:	n/a
21	chr22:20284604-20284654	HCT-116	colon:	n/a
22	chr22:20284604-20284654	HCPEpiC	choroid plexus:	n/a
23	chr22:20284604-20284654	HL-60	blood:	n/a
24	chr22:20284604-20284654	BJ	skin:	n/a
25	chr22:20284604-20284654	HCF	heart:	n/a
26	chr22:20284604-20284654	HIPEpiC	eye:	n/a
27	chr22:20284604-20284654	LNCaP	prostate:	n/a
28	chr22:20284604-20284654	CMK	blood:	n/a
29	chr22:20284604-20284654	A549	lung:	n/a
30	chr22:20284604-20284654	AG04449	skin:	fetal
31	chr22:20284604-20284654	NH-A	brain:	n/a
32	chr22:20284604-20284654	NHBE	bronchial:	n/a
33	chr22:20284604-20284654	T-47D	breast:	n/a
34	chr22:20284604-20284654	HEEpiC	esophagus:	n/a
35	chr22:20284604-20284654	GM06990	blood:	n/a
36	chr22:20284604-20284654	HRPEpiC	eye:	n/a
37	chr22:20284604-20284654	U87	brain:	n/a
38	chr22:20284604-20284654	AG10803	skin:	n/a
39	chr22:20284604-20284654	HCM	heart:	n/a
40	chr22:20284604-20284654	IMR90	lung:	fetal
41	chr22:20284604-20284654	ECC-1	luminal epithelium:	n/a
42	chr22:20284604-20284654	AG09319	gingival:	n/a
43	chr22:20284604-20284654	HPAEpiC	pulmonary alveolar:	n/a
44	chr22:20284604-20284654	GM12891	blood:	n/a
45	chr22:20284604-20284654	BE2_C	brain:	n/a
46	chr22:20284604-20284654	HepG2	liver:	n/a
47	chr22:20284604-20284654	AoSMC	blood vessel:	n/a
48	chr22:20284604-20284654	NT2-D1	testis:	n/a
49	chr22:20284604-20284654	HRE	kidney:	n/a
50	chr22:20284604-20284654	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:20284155..20285895-chr22:20778512..20780331,2	K562	blood:
2	chr22:20283079..20285418-chr22:20288741..20290266,2	K562	blood:
3	chr22:20174347..20176842-chr22:20283919..20286153,2	K562	blood:
4	chr22:20113773..20115311-chr22:20283936..20285484,2	K562	blood:
5	chr22:20281007..20283182-chr22:20284432..20287016,2	MCF-7	breast:
6	chr22:20278067..20279839-chr22:20283308..20285049,3	MCF-7	breast:
7	chr22:20284435..20289251-chr22:20305915..20309120,4	K562	blood:
8	chr22:20278577..20280804-chr22:20281181..20284966,5	K562	blood:
9	chr22:20284539..20286947-chr22:20746722..20748522,2	MCF-7	breast:
10	chr22:20284063..20288249-chr22:20303567..20308986,5	K562	blood:
11	chr22:20104919..20107067-chr22:20282934..20285543,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161132	CpG island
ENSG00000273343	Chromatin interaction
ENSG00000264346	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000128185	Chromatin interaction
ENSG00000185252	Chromatin interaction
ENSG00000273139	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11913556	0.89[AFR][1000 genomes]
rs28483521	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56185412	0.83[ASN][1000 genomes]
rs5993954	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287659	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9618775	0.82[EUR][1000 genomes]
rs9618776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
3	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
4	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
6	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer 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	158 gene(s)	inside rSNPs	diseases
8	nsv471183	chr22:20006040-20306993	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
9	esv2758536	chr22:20026493-20309447	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription 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	59 gene(s)	inside rSNPs	diseases
10	esv2758825	chr22:20026493-20309447	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv828950	chr22:20057967-20311988	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	esv1793574	chr22:20075870-20728868	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv914332	chr22:20082961-20339310	Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers 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	57 gene(s)	inside rSNPs	diseases
14	nsv914337	chr22:20087539-20330895	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	esv1832132	chr22:20089802-20728868	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
16	nsv1061349	chr22:20091394-20734304	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
17	nsv914345	chr22:20093317-20286099	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	esv1804395	chr22:20093565-20485443	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription 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	69 gene(s)	inside rSNPs	diseases
19	esv1850291	chr22:20093565-20666528	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
20	esv1824760	chr22:20093565-20728868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription 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	77 gene(s)	inside rSNPs	diseases
21	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
22	nsv828951	chr22:20109578-20310046	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription 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	47 gene(s)	inside rSNPs	diseases
23	nsv869949	chr22:20126918-20719112	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
24	nsv914359	chr22:20165632-20290691	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
25	nsv914360	chr22:20165632-20339310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
26	nsv914361	chr22:20181136-20313299	Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
27	nsv914365	chr22:20189077-20290691	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
28	nsv914366	chr22:20189077-20306993	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
29	nsv914375	chr22:20210055-20306993	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20282400-20286400	Strong transcription	Right Atrium	heart
2	chr22:20283600-20285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:20284400-20284800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:20284600-20285200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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