Variant report

Variant	rs2161093
Chromosome Location	chr5:79605860-79605861
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:0)
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	chr5:79605859-79605909	IMR90	lung:	fetal
2	chr5:79605859-79605909	NH-A	brain:	n/a
3	chr5:79605859-79605909	CMK	blood:	n/a
4	chr5:79605859-79605909	GM06990	blood:	n/a
5	chr5:79605859-79605909	SAEC	small airway:	n/a
6	chr5:79605859-79605909	SKMC	muscle:	n/a
7	chr5:79605859-79605909	NHDF-neo	bronchial:	n/a
8	chr5:79605859-79605909	NHBE	bronchial:	n/a
9	chr5:79605859-79605909	SK-N-SH	brain:	n/a
10	chr5:79605859-79605909	HL-60	blood:	n/a
11	chr5:79605859-79605909	MCF-7	breast:	n/a
12	chr5:79605859-79605909	HMEC	breast:	n/a
13	chr5:79605859-79605909	GM12878	blood:	n/a
14	chr5:79605859-79605909	MCF10A-Er-Src	breast:	n/a
15	chr5:79605859-79605909	AG10803	skin:	n/a
16	chr5:79605859-79605909	HCM	heart:	n/a
17	chr5:79605859-79605909	Jurkat	blood:	n/a
18	chr5:79605859-79605909	HEEpiC	esophagus:	n/a
19	chr5:79605859-79605909	LNCaP	prostate:	n/a
20	chr5:79605859-79605909	NB4	blood:	n/a
21	chr5:79605859-79605909	HCPEpiC	choroid plexus:	n/a
22	chr5:79605859-79605909	AG09319	gingival:	n/a
23	chr5:79605859-79605909	HNPCEpiC	eye:	n/a
24	chr5:79605859-79605909	Hepatocyte	liver:	n/a
25	chr5:79605859-79605909	AG09309	skin:	n/a
26	chr5:79605859-79605909	PrEC	prostate:	n/a
27	chr5:79605859-79605909	A549	lung:	n/a
28	chr5:79605859-79605909	HAEpiC	amniotic membrane:	n/a
29	chr5:79605859-79605909	PFSK-1	brain:	n/a
30	chr5:79605859-79605909	H1-hESC	embryonic stem cell:	embryo
31	chr5:79605859-79605909	HCF	heart:	n/a
32	chr5:79605859-79605909	PANC-1	pancreas:	n/a
33	chr5:79605859-79605909	SK-N-MC	brain:	n/a
34	chr5:79605859-79605909	U87	brain:	n/a
35	chr5:79605859-79605909	BJ	skin:	n/a
36	chr5:79605859-79605909	AoSMC	blood vessel:	n/a
37	chr5:79605859-79605909	HCT-116	colon:	n/a
38	chr5:79605859-79605909	Hela-S3	cervix:	n/a
39	chr5:79605859-79605909	GM12892	blood:	n/a
40	chr5:79605859-79605909	ProgFib	skin:	n/a
41	chr5:79605859-79605909	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:79605859-79605909	Caco-2	colon:	n/a
43	chr5:79605859-79605909	HIPEpiC	eye:	n/a
44	chr5:79605859-79605909	AG04450	lung:	fetal
45	chr5:79605859-79605909	RPTEC	kidney:	n/a
46	chr5:79605859-79605909	ovcar-3	ovarian:	n/a
47	chr5:79605859-79605909	T-47D	breast:	n/a
48	chr5:79605859-79605909	HUVEC	blood vessel:	n/a
49	chr5:79605859-79605909	SK-N-SH_RA	brain:	n/a
50	chr5:79605859-79605909	HRCEpiC	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000251828	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10040789	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040794	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056190	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10063479	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10805935	0.81[ASN][1000 genomes]
rs10942920	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12655069	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500138	0.86[ASN][1000 genomes]
rs2112151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478300	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4703808	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4703809	0.86[ASN][1000 genomes]
rs4704661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4704662	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59393042	0.92[ASN][1000 genomes]
rs6453514	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6453515	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6859753	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6897248	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720696	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7734893	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats 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 target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv980690	chr5:79591958-79614381	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr5:79605400-79606400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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