Variant report

Variant	rs2691097
Chromosome Location	chr5:119819956-119819957
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119808055..119810558-chr5:119818687..119821313,2	K562	blood:
2	chr5:119814891..119816438-chr5:119818822..119820625,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10035683	0.93[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10052263	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10052334	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10060164	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10064623	0.93[CEU][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10064951	0.87[ASN][1000 genomes]
rs10065330	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10213989	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10477605	0.93[CEU][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10478471	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10478472	0.93[CEU][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10478473	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10478474	0.93[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10519636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11949016	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12109423	0.82[EUR][1000 genomes]
rs13356306	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13361121	0.93[CEU][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1378262	0.87[ASN][1000 genomes]
rs1454982	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16766	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs17146657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17146662	1.00[CHB][hapmap]
rs17146705	0.87[ASN][1000 genomes]
rs1823926	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs1823927	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs2601209	1.00[JPT][hapmap]
rs2601210	0.81[CEU][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2601211	0.81[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2604163	0.81[CEU][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2604164	0.97[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2604165	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2655066	0.93[CEU][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2655067	0.81[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2655069	0.86[CEU][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2691094	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2691100	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs300956	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs300957	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs3991306	0.91[ASN][1000 genomes]
rs4476747	0.92[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4895261	0.81[CEU][hapmap]
rs6595239	0.93[CEU][hapmap];0.97[YRI][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6865123	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6871554	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6882134	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6892665	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6895369	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72786260	0.83[ASN][1000 genomes]
rs72788222	0.83[ASN][1000 genomes]
rs72788223	0.87[ASN][1000 genomes]
rs72788224	0.87[ASN][1000 genomes]
rs72788231	0.87[ASN][1000 genomes]
rs72788238	0.83[ASN][1000 genomes]
rs7448156	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7702580	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs7706025	0.91[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710004	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7710626	0.93[CEU][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710848	0.92[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710928	0.92[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7712847	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7715549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7728098	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7733602	0.86[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs921782	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9327144	0.92[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9327145	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9327146	0.92[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9687538	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3387506	chr5:119819178-119821426	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
4	chr5:119816400-119835400	Weak transcription	Osteobl	bone
5	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:119818600-119835000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:119819000-119829400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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