Variant report

Variant	rs6895369
Chromosome Location	chr5:119852349-119852350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:119803768..119806455-chr5:119850808..119853040,2	K562	blood:
2	chr5:119848832..119850459-chr5:119850972..119852496,2	K562	blood:
3	chr5:119803768..119806715-chr5:119850808..119853246,2	K562	blood:
4	chr5:119852123..119854010-chr5:120038446..120041236,2	K562	blood:
5	chr5:119851956..119854339-chr5:119862015..119863785,2	K562	blood:
6	chr5:119798174..119800652-chr5:119851053..119853705,2	K562	blood:
7	chr5:119851956..119853481-chr5:119862285..119864209,2	K562	blood:
8	chr5:119801016..119803100-chr5:119851238..119853983,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10035683	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10052263	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10052334	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10060164	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064623	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10064951	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065330	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10213989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10477605	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478471	0.85[AFR][1000 genomes]
rs10478472	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10478473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10478474	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10519636	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949016	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13356306	0.84[AFR][1000 genomes]
rs13361121	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1378262	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454982	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16766	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17146657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17146662	1.00[CHB][hapmap]
rs17146665	1.00[JPT][hapmap]
rs17146705	0.91[ASN][1000 genomes]
rs1823926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1823927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap]
rs2601209	1.00[JPT][hapmap]
rs2601211	1.00[YRI][hapmap]
rs2604163	0.86[YRI][hapmap]
rs2604164	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs2604165	0.95[YRI][hapmap]
rs2655066	0.80[ASN][1000 genomes]
rs2655067	1.00[YRI][hapmap]
rs2655069	0.93[YRI][hapmap]
rs2691097	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]
rs2691100	1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[ASN][1000 genomes]
rs300956	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3991306	0.95[ASN][1000 genomes]
rs4476747	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4895261	0.93[CEU][hapmap]
rs6595239	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6865123	0.80[ASN][1000 genomes]
rs6882134	0.84[AFR][1000 genomes]
rs6892665	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72786260	0.95[ASN][1000 genomes]
rs72788222	0.95[ASN][1000 genomes]
rs72788223	0.91[ASN][1000 genomes]
rs72788224	0.91[ASN][1000 genomes]
rs72788231	0.91[ASN][1000 genomes]
rs72788238	0.95[ASN][1000 genomes]
rs7448156	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7702580	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706025	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7710004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7710626	0.90[AFR][1000 genomes]
rs7710848	0.96[YRI][hapmap];0.80[AFR][1000 genomes]
rs7710928	0.84[CEU][hapmap];0.96[YRI][hapmap]
rs7715549	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7728098	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7733602	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs921782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9327144	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9327145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9327146	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs9687538	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119836400-119852400	Weak transcription	HSMM	muscle
2	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
3	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
4	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:119848200-119852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:119849200-119852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:119851400-119852400	Weak transcription	K562	blood
9	chr5:119851400-119853400	Enhancers	NHDF-Ad	bronchial
10	chr5:119852200-119852400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:119852200-119853600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:119852200-119853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:119852200-119854000	Enhancers	NH-A	brain
14	chr5:119852200-119854600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:119852200-119854600	Enhancers	Osteobl	bone
16	chr5:119852200-119855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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