Variant report

Variant	rs814874
Chromosome Location	chr1:76109358-76109359
allele	A/T
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	EP300	chr1:76109125-76109564	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr1:76109179-76109550	SK-N-SH_RA	brain:	n/a	n/a
3	MYC	chr1:76109311-76109572	K562	blood:	n/a	n/a
4	ATF1	chr1:76109354-76109542	K562	blood:	n/a	n/a
5	EP300	chr1:76109142-76109553	SK-N-SH_RA	brain:	n/a	n/a
6	NFIC	chr1:76109231-76109653	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76103722..76106233-chr1:76108885..76111145,2	K562	blood:
2	chr1:76102793..76106233-chr1:76108594..76111145,3	K562	blood:

Variant related genes	Relation type
ENSG00000230863	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1093006	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1093009	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1093011	0.83[ASN][1000 genomes]
rs11161704	0.80[ASN][1000 genomes]
rs1144328	0.81[ASN][1000 genomes]
rs1144331	0.80[ASN][1000 genomes]
rs1144333	0.80[ASN][1000 genomes]
rs1144337	0.80[ASN][1000 genomes]
rs1144339	0.80[ASN][1000 genomes]
rs1144341	0.80[ASN][1000 genomes]
rs1144342	0.80[ASN][1000 genomes]
rs1146572	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146577	0.84[ASN][1000 genomes]
rs1146592	0.89[ASN][1000 genomes]
rs1146593	0.87[ASN][1000 genomes]
rs1146602	0.87[ASN][1000 genomes]
rs1146616	0.85[ASN][1000 genomes]
rs1146625	0.81[ASN][1000 genomes]
rs1146645	0.81[ASN][1000 genomes]
rs1146647	0.81[ASN][1000 genomes]
rs1146649	0.80[ASN][1000 genomes]
rs1146651	0.80[ASN][1000 genomes]
rs1146652	0.80[ASN][1000 genomes]
rs1250875	0.90[ASN][1000 genomes]
rs1250877	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1250878	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1250882	0.80[ASN][1000 genomes]
rs1251065	0.90[ASN][1000 genomes]
rs1251078	0.81[ASN][1000 genomes]
rs1251079	0.81[ASN][1000 genomes]
rs1251270	0.80[ASN][1000 genomes]
rs1251273	0.80[ASN][1000 genomes]
rs1251274	0.80[ASN][1000 genomes]
rs12703	0.81[ASN][1000 genomes]
rs1323734	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1621198	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1631498	0.84[ASN][1000 genomes]
rs1767459	0.86[ASN][1000 genomes]
rs1770513	0.86[ASN][1000 genomes]
rs1960528	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2012536	0.81[ASN][1000 genomes]
rs5745327	0.81[ASN][1000 genomes]
rs5745343	0.80[ASN][1000 genomes]
rs5745354	0.80[ASN][1000 genomes]
rs5745392	0.80[ASN][1000 genomes]
rs59974491	0.84[AFR][1000 genomes]
rs696677	0.93[ASN][1000 genomes]
rs696679	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699677	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699683	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs699824	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs699825	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814851	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814855	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814897	0.83[ASN][1000 genomes]
rs815303	0.87[ASN][1000 genomes]
rs815309	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv2756846	chr1:76083408-76156986	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv10295	chr1:76085406-76119292	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv997990	chr1:76086763-76121738	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1003742	chr1:76086763-76124052	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv998205	chr1:76086763-76125366	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3692758	chr1:76088392-76126205	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv546582	chr1:76088392-76126205	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv546583	chr1:76088392-76134765	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	esv34738	chr1:76094234-76121479	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	esv34562	chr1:76094234-76121738	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:76109200-76109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links