Variant report

Variant	rs6891909
Chromosome Location	chr5:120279200-120279201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10036778	1.00[EUR][1000 genomes]
rs10038543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10039179	0.85[ASN][1000 genomes]
rs10040090	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10041438	0.85[ASN][1000 genomes]
rs10042248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10042273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10045684	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051810	1.00[EUR][1000 genomes]
rs10052619	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10052980	0.85[ASN][1000 genomes]
rs10054220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056627	0.85[ASN][1000 genomes]
rs10058697	0.85[ASN][1000 genomes]
rs10061068	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10061171	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10063730	0.85[ASN][1000 genomes]
rs10067493	0.85[ASN][1000 genomes]
rs10069259	0.85[ASN][1000 genomes]
rs10070846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10070849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072159	0.91[EUR][1000 genomes]
rs10072603	0.85[ASN][1000 genomes]
rs10073492	0.85[ASN][1000 genomes]
rs10073932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10074366	0.85[ASN][1000 genomes]
rs10076656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077351	0.85[ASN][1000 genomes]
rs10077418	0.85[ASN][1000 genomes]
rs10077676	0.85[ASN][1000 genomes]
rs10079127	1.00[EUR][1000 genomes]
rs10079133	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10079270	1.00[EUR][1000 genomes]
rs10214410	1.00[ASN][1000 genomes]
rs10478492	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13328230	0.85[ASN][1000 genomes]
rs13357432	1.00[CEU][hapmap]
rs13359755	0.85[ASN][1000 genomes]
rs13436012	0.85[ASN][1000 genomes]
rs13436033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13436660	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363379	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1582465	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28391026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28404957	0.85[ASN][1000 genomes]
rs28412190	0.85[ASN][1000 genomes]
rs28501676	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502833	0.85[ASN][1000 genomes]
rs28551765	0.96[EUR][1000 genomes]
rs28655694	0.85[ASN][1000 genomes]
rs28729806	0.85[ASN][1000 genomes]
rs4504408	0.85[ASN][1000 genomes]
rs4559028	0.85[ASN][1000 genomes]
rs4895289	1.00[ASN][1000 genomes]
rs4895290	1.00[ASN][1000 genomes]
rs58153092	0.85[ASN][1000 genomes]
rs58181093	0.85[ASN][1000 genomes]
rs60508719	1.00[EUR][1000 genomes]
rs6862054	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6896267	0.85[ASN][1000 genomes]
rs73260742	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73260786	1.00[EUR][1000 genomes]
rs73260789	1.00[EUR][1000 genomes]
rs73263360	0.85[ASN][1000 genomes]
rs7724973	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9327169	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9327170	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9327174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv599603	chr5:119953529-120317035	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv949415	chr5:119957645-120459183	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1030613	chr5:119980213-120301205	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3369974	chr5:120051746-120319085	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv882791	chr5:120100225-120293328	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1015280	chr5:120163808-120306848	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv1025157	chr5:120175806-120307539	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv882792	chr5:120183146-120296787	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv428125	chr5:120194868-120458466	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv882793	chr5:120208192-120296787	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
12	nsv882794	chr5:120219340-120541488	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1028476	chr5:120232873-120525748	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv1030983	chr5:120243702-120366034	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv508377	chr5:120251229-120305261	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv1033169	chr5:120267543-120525748	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv537887	chr5:120267543-120525748	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv526730	chr5:120270505-120301076	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
20	nsv527585	chr5:120270505-120542415	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv2422297	chr5:120274195-120330473	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120273400-120289200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:120277600-120279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:120277600-120279400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:120277800-120280200	Enhancers	Dnd41	blood
5	chr5:120278400-120279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:120278400-120279600	Enhancers	Fetal Lung	lung
7	chr5:120279000-120286600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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