Variant report

Variant	rs276315
Chromosome Location	chr5:42022454-42022455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41924690..41926858-chr5:42021925..42024916,2	K562	blood:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1006996	0.91[GIH][hapmap];0.86[TSI][hapmap]
rs10078494	0.82[ASN][1000 genomes]
rs1073273	0.82[ASN][1000 genomes]
rs1110874	0.82[ASN][1000 genomes]
rs1119855	0.84[ASN][1000 genomes]
rs12514243	0.82[ASN][1000 genomes]
rs12515833	0.80[ASN][1000 genomes]
rs12517161	0.82[ASN][1000 genomes]
rs16872114	0.94[ASN][1000 genomes]
rs17586491	0.98[ASN][1000 genomes]
rs17586526	0.94[CHD][hapmap];1.00[ASN][1000 genomes]
rs17586540	0.81[JPT][hapmap];1.00[ASN][1000 genomes]
rs202299	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2134102	0.82[ASN][1000 genomes]
rs2161581	1.00[ASN][1000 genomes]
rs276233	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276234	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276235	0.82[EUR][1000 genomes]
rs276237	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276238	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs276239	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276240	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276241	0.82[EUR][1000 genomes]
rs276242	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276243	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276246	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs276270	0.94[ASN][1000 genomes]
rs276277	0.92[ASN][1000 genomes]
rs276289	0.87[CEU][hapmap];0.81[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276290	0.87[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276291	0.87[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276292	0.96[EUR][1000 genomes]
rs276294	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276306	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276307	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276309	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs276310	0.96[EUR][1000 genomes]
rs276311	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276314	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277414	0.95[GIH][hapmap];0.86[TSI][hapmap]
rs277416	0.91[GIH][hapmap];0.86[TSI][hapmap]
rs34226693	0.96[ASN][1000 genomes]
rs3913458	0.82[ASN][1000 genomes]
rs4279375	0.86[ASN][1000 genomes]
rs4342369	1.00[ASN][1000 genomes]
rs4358567	1.00[ASN][1000 genomes]
rs4358568	0.96[ASN][1000 genomes]
rs4590218	1.00[ASN][1000 genomes]
rs4626371	0.80[ASN][1000 genomes]
rs4957190	1.00[ASN][1000 genomes]
rs4957191	1.00[ASN][1000 genomes]
rs4957192	1.00[ASN][1000 genomes]
rs4957446	1.00[ASN][1000 genomes]
rs4957447	1.00[ASN][1000 genomes]
rs4957449	1.00[ASN][1000 genomes]
rs4957464	0.80[ASN][1000 genomes]
rs58911119	0.81[ASN][1000 genomes]
rs6451589	1.00[ASN][1000 genomes]
rs6451592	0.82[ASN][1000 genomes]
rs666080	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72748636	0.92[ASN][1000 genomes]
rs7341123	1.00[ASN][1000 genomes]
rs7708373	1.00[ASN][1000 genomes]
rs7708493	1.00[ASN][1000 genomes]
rs7713544	0.82[ASN][1000 genomes]
rs905097	0.82[ASN][1000 genomes]
rs905099	0.80[ASN][1000 genomes]
rs931230	0.80[ASN][1000 genomes]
rs931231	0.88[ASN][1000 genomes]
rs990898	0.82[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	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42020400-42023800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:42020800-42023200	Enhancers	HSMM	muscle
3	chr5:42021800-42023600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:42022200-42023000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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