Variant report

Variant	rs814855
Chromosome Location	chr1:76134126-76134127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1093006	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1093009	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1093011	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11161704	0.83[ASN][1000 genomes]
rs1144328	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1144331	0.83[ASN][1000 genomes]
rs1144333	0.83[ASN][1000 genomes]
rs1144337	0.83[ASN][1000 genomes]
rs1144339	0.83[ASN][1000 genomes]
rs1144341	0.83[ASN][1000 genomes]
rs1144342	0.83[ASN][1000 genomes]
rs1146572	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1146577	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1146587	0.82[ASN][1000 genomes]
rs1146592	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1146593	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1146602	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1146613	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1146616	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1146625	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1146645	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146647	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1146648	0.80[ASN][1000 genomes]
rs1146649	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1146651	0.83[ASN][1000 genomes]
rs1146652	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1250875	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250876	0.83[ASN][1000 genomes]
rs1250877	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250878	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250880	0.83[ASN][1000 genomes]
rs1250882	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1251065	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1251077	0.84[ASN][1000 genomes]
rs1251078	0.85[ASN][1000 genomes]
rs1251079	0.85[ASN][1000 genomes]
rs1251270	0.83[ASN][1000 genomes]
rs1251273	0.83[ASN][1000 genomes]
rs1251274	0.83[ASN][1000 genomes]
rs12703	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1323734	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621198	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1631498	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1767457	0.81[ASN][1000 genomes]
rs1767459	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1770513	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1960528	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2012536	0.84[ASN][1000 genomes]
rs5745327	0.84[ASN][1000 genomes]
rs5745343	0.83[ASN][1000 genomes]
rs5745354	0.83[ASN][1000 genomes]
rs5745392	0.83[ASN][1000 genomes]
rs59974491	0.84[AFR][1000 genomes]
rs696677	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs696679	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699677	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699683	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs699824	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs699825	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516477	0.83[ASN][1000 genomes]
rs814851	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814873	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814874	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs814897	0.88[ASN][1000 genomes]
rs815303	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs815309	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv945914	chr1:76109781-76172388	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv3500167	chr1:76132764-76136162	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3500169	chr1:76133214-76136012	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv10317	chr1:76133767-76135331	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3320247	chr1:76133794-76135105	Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv3320244	chr1:76133839-76135082	Weak transcription	n/a	n/a	inside rSNPs	diseases
15	esv3500168	chr1:76133849-76135121	Weak transcription	n/a	n/a	inside rSNPs	diseases
16	esv3320245	chr1:76133858-76135066	Weak transcription	n/a	n/a	inside rSNPs	diseases
17	esv3500166	chr1:76133866-76135087	Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3320246	chr1:76133881-76135053	Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3500165	chr1:76133895-76135087	Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv3500170	chr1:76133945-76135003	Weak transcription	n/a	n/a	inside rSNPs	diseases
21	esv3320248	chr1:76133949-76135001	Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv3500171	chr1:76133949-76135001	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76129200-76136400	Weak transcription	HepG2	liver
2	chr1:76131200-76137600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:76133800-76136600	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links