Variant report

Variant	rs11985029
Chromosome Location	chr8:86347116-86347117
allele	C/T
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	chr8:86347111-86347161	T-47D	breast:	n/a
2	chr8:86347111-86347161	U87	brain:	n/a
3	chr8:86347111-86347161	GM19239	blood:	n/a
4	chr8:86347111-86347161	HNPCEpiC	eye:	n/a
5	chr8:86347111-86347161	Jurkat	blood:	n/a
6	chr8:86347111-86347161	IMR90	lung:	fetal
7	chr8:86347111-86347161	GM12878	blood:	n/a
8	chr8:86347111-86347161	AG09319	gingival:	n/a
9	chr8:86347111-86347161	ovcar-3	ovarian:	n/a
10	chr8:86347111-86347161	HCT-116	colon:	n/a
11	chr8:86347111-86347161	HIPEpiC	eye:	n/a
12	chr8:86347111-86347161	SAEC	small airway:	n/a
13	chr8:86347111-86347161	H1-hESC	embryonic stem cell:	embryo
14	chr8:86347111-86347161	PrEC	prostate:	n/a
15	chr8:86347111-86347161	GM12892	blood:	n/a
16	chr8:86347111-86347161	NH-A	brain:	n/a
17	chr8:86347111-86347161	SK-N-MC	brain:	n/a
18	chr8:86347111-86347161	ECC-1	luminal epithelium:	n/a
19	chr8:86347111-86347161	AG10803	skin:	n/a
20	chr8:86347111-86347161	A549	lung:	n/a
21	chr8:86347111-86347161	NHBE	bronchial:	n/a
22	chr8:86347111-86347161	LNCaP	prostate:	n/a
23	chr8:86347111-86347161	AoSMC	blood vessel:	n/a
24	chr8:86347111-86347161	GM06990	blood:	n/a
25	chr8:86347111-86347161	HepG2	liver:	n/a
26	chr8:86347111-86347161	PANC-1	pancreas:	n/a
27	chr8:86347111-86347161	HUVEC	blood vessel:	n/a
28	chr8:86347111-86347161	HRPEpiC	eye:	n/a
29	chr8:86347111-86347161	HCF	heart:	n/a
30	chr8:86347111-86347161	SK-N-SH_RA	brain:	n/a
31	chr8:86347111-86347161	MCF-7	breast:	n/a
32	chr8:86347111-86347161	SK-N-SH	brain:	n/a
33	chr8:86347111-86347161	SKMC	muscle:	n/a
34	chr8:86347111-86347161	HEK293	kidney:	embryo
35	chr8:86347111-86347161	Hepatocyte	liver:	n/a
36	chr8:86347111-86347161	K562	blood:	n/a
37	chr8:86347111-86347161	HL-60	blood:	n/a
38	chr8:86347111-86347161	AG09309	skin:	n/a
39	chr8:86347111-86347161	CMK	blood:	n/a
40	chr8:86347111-86347161	HCPEpiC	choroid plexus:	n/a
41	chr8:86347111-86347161	HMEC	breast:	n/a
42	chr8:86347111-86347161	HRCEpiC	kidney:	n/a
43	chr8:86347111-86347161	PFSK-1	brain:	n/a
44	chr8:86347111-86347161	Hela-S3	cervix:	n/a
45	chr8:86347111-86347161	HCM	heart:	n/a
46	chr8:86347111-86347161	RPTEC	kidney:	n/a
47	chr8:86347111-86347161	AG04449	skin:	fetal
48	chr8:86347111-86347161	AG04450	lung:	fetal
49	chr8:86347111-86347161	ProgFib	skin:	n/a
50	chr8:86347111-86347161	GM12891	blood:	n/a

No data

Variant related genes	Relation type
CA3	CpG island

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10087278	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10088136	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10091566	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095352	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10097917	0.83[ASN][1000 genomes]
rs10111039	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11261474	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11985733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550814	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13252971	0.92[ASN][1000 genomes]
rs13255540	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13273654	0.88[ASN][1000 genomes]
rs1389245	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1389247	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1390712	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1493302	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1532423	0.88[ASN][1000 genomes]
rs1532424	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543852	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1908075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2055077	0.83[ASN][1000 genomes]
rs20571	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072696	0.87[ASN][1000 genomes]
rs2173044	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2307075	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2403105	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2548281	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2645053	0.81[ASN][1000 genomes]
rs3758076	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3758077	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4566	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66498753	0.81[ASN][1000 genomes]
rs6988475	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6997458	0.88[ASN][1000 genomes]
rs7000950	0.91[ASN][1000 genomes]
rs703	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs713488	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs713489	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs725605	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7824715	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9286249	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs931505	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs955007	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9969643	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9987281	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018483	chr8:86142258-86547831	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1024759	chr8:86162507-86361533	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539659	chr8:86162507-86361533	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1022463	chr8:86257031-86547831	Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1804888	chr8:86263098-86986703	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831377	chr8:86263107-86444141	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028148	chr8:86310570-86553130	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv2761206	chr8:86310582-86468868	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11985029	CA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86344200-86349600	Weak transcription	NHEK	skin
2	chr8:86344200-86350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:86344400-86350200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links