Variant report

Variant	rs4437611
Chromosome Location	chr8:10382189-10382190
allele	A/C
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:1)
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	chr8:10382165-10382215	HCT-116	colon:	n/a
2	chr8:10382165-10382215	Hela-S3	cervix:	n/a
3	chr8:10382165-10382215	NH-A	brain:	n/a
4	chr8:10382165-10382215	ECC-1	luminal epithelium:	n/a
5	chr8:10382165-10382215	PFSK-1	brain:	n/a
6	chr8:10382165-10382215	BE2_C	brain:	n/a
7	chr8:10382165-10382215	HepG2	liver:	n/a
8	chr8:10382165-10382215	MCF10A-Er-Src	breast:	n/a
9	chr8:10382165-10382215	T-47D	breast:	n/a
10	chr8:10382165-10382215	MCF-7	breast:	n/a
11	chr8:10382165-10382215	HRPEpiC	eye:	n/a
12	chr8:10382165-10382215	HMEC	breast:	n/a
13	chr8:10382165-10382215	HUVEC	blood vessel:	n/a
14	chr8:10382165-10382215	GM19239	blood:	n/a
15	chr8:10382165-10382215	NHDF-neo	bronchial:	n/a
16	chr8:10382165-10382215	AG04450	lung:	fetal
17	chr8:10382165-10382215	SK-N-SH_RA	brain:	n/a
18	chr8:10382165-10382215	Hepatocyte	liver:	n/a
19	chr8:10382165-10382215	HCM	heart:	n/a
20	chr8:10382165-10382215	GM12878	blood:	n/a
21	chr8:10382165-10382215	NB4	blood:	n/a
22	chr8:10382165-10382215	IMR90	lung:	fetal
23	chr8:10382165-10382215	SAEC	small airway:	n/a
24	chr8:10382165-10382215	AG09319	gingival:	n/a
25	chr8:10382165-10382215	AG10803	skin:	n/a
26	chr8:10382165-10382215	CMK	blood:	n/a
27	chr8:10382165-10382215	PrEC	prostate:	n/a
28	chr8:10382165-10382215	NHBE	bronchial:	n/a
29	chr8:10382165-10382215	PANC-1	pancreas:	n/a
30	chr8:10382165-10382215	A549	lung:	n/a
31	chr8:10382165-10382215	HL-60	blood:	n/a
32	chr8:10382165-10382215	Jurkat	blood:	n/a
33	chr8:10382165-10382215	AoSMC	blood vessel:	n/a
34	chr8:10382165-10382215	SK-N-SH	brain:	n/a
35	chr8:10382165-10382215	Caco-2	colon:	n/a
36	chr8:10382165-10382215	GM12891	blood:	n/a
37	chr8:10382165-10382215	SKMC	muscle:	n/a
38	chr8:10382165-10382215	SK-N-MC	brain:	n/a
39	chr8:10382165-10382215	HRCEpiC	kidney:	n/a
40	chr8:10382165-10382215	HEK293	kidney:	embryo
41	chr8:10382165-10382215	HRE	kidney:	n/a
42	chr8:10382165-10382215	BJ	skin:	n/a
43	chr8:10382165-10382215	HCPEpiC	choroid plexus:	n/a
44	chr8:10382165-10382215	AG09309	skin:	n/a
45	chr8:10382165-10382215	GM06990	blood:	n/a
46	chr8:10382165-10382215	HEEpiC	esophagus:	n/a
47	chr8:10382165-10382215	HCF	heart:	n/a
48	chr8:10382165-10382215	K562	blood:	n/a
49	chr8:10382165-10382215	AG04449	skin:	fetal
50	chr8:10382165-10382215	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10374624..10377226-chr8:10381375..10383874,2	K562	blood:

No data

Variant related genes	Relation type
PRSS55	CpG island
ENSG00000253649	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10105841	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12674796	0.80[EUR][1000 genomes]
rs12679591	0.81[ASN][1000 genomes]
rs13254676	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13255425	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13280674	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13280729	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28485845	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34037334	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35128500	0.81[AMR][1000 genomes]
rs35483889	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4240647	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4240648	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4268093	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4281086	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4289772	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4339601	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4398869	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4457299	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4473997	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4496927	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4531010	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4535706	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56225449	0.81[ASN][1000 genomes]
rs62490637	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6601478	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6601481	0.86[EUR][1000 genomes]
rs6601483	0.85[EUR][1000 genomes]
rs7008169	0.80[AMR][1000 genomes]
rs7012813	0.81[EUR][1000 genomes]
rs7357473	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7812525	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7821144	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7834351	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7835667	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7838089	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7838337	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7839763	0.86[EUR][1000 genomes]
rs7846328	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv1026918	chr8:10359634-10390452	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10379400-10383200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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