Variant report

Variant	rs6472254
Chromosome Location	chr8:67065296-67065297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10081623	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10091625	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10092687	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs10093091	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095931	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs10099957	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs10101457	0.88[YRI][hapmap];0.84[AFR][1000 genomes]
rs10104916	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107870	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109602	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs10448012	0.97[EUR][1000 genomes]
rs1044938	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1044942	0.97[EUR][1000 genomes]
rs10957367	0.87[EUR][1000 genomes]
rs11986216	0.87[CEU][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986805	0.83[YRI][hapmap];0.85[AFR][1000 genomes]
rs11988053	0.83[AFR][1000 genomes]
rs11990370	0.97[EUR][1000 genomes]
rs11997416	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs12334408	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs16932514	0.85[AFR][1000 genomes]
rs16932527	1.00[EUR][1000 genomes]
rs16932535	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs16932564	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16932632	0.97[EUR][1000 genomes]
rs1814583	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28421720	1.00[EUR][1000 genomes]
rs28542552	1.00[EUR][1000 genomes]
rs28703095	0.97[EUR][1000 genomes]
rs3176921	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279579	0.96[EUR][1000 genomes]
rs4366069	0.86[YRI][hapmap];0.86[AFR][1000 genomes]
rs4495409	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs4503082	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5030877	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56394731	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472249	0.82[AFR][1000 genomes]
rs6472251	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs6472252	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6472255	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472256	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472257	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6988195	0.85[YRI][hapmap];0.80[AFR][1000 genomes]
rs6990624	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996265	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999780	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7003017	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7003450	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006903	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7008244	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs7008359	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs7008578	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs7013524	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73246516	0.81[AFR][1000 genomes]
rs7816410	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7818902	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820617	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7822243	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823108	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823304	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826464	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828111	1.00[EUR][1000 genomes]
rs7830926	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831234	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7834423	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs7835948	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs7838125	1.00[EUR][1000 genomes]
rs7838500	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842707	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843038	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7843605	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7845334	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs7846184	0.82[CEU][hapmap];0.97[EUR][1000 genomes]
rs9694082	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:67051800-67066000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:67053400-67066400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67053800-67066400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:67055600-67068800	Weak transcription	Right Atrium	heart
6	chr8:67055800-67068800	Weak transcription	Right Ventricle	heart
7	chr8:67058600-67071400	Weak transcription	Liver	Liver
8	chr8:67059200-67066400	Weak transcription	NHLF	lung
9	chr8:67059400-67066000	Strong transcription	HSMM	muscle
10	chr8:67059400-67066000	Weak transcription	NHDF-Ad	bronchial
11	chr8:67059600-67065400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:67059600-67066600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:67059600-67066800	Weak transcription	Osteobl	bone
14	chr8:67059600-67067000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:67061200-67065800	Enhancers	Fetal Heart	heart
16	chr8:67061800-67066800	Strong transcription	HSMMtube	muscle
17	chr8:67064000-67069200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:67064600-67068000	Weak transcription	Psoas Muscle	Psoas
19	chr8:67064800-67065600	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:67065000-67066000	Weak transcription	Left Ventricle	heart
21	chr8:67065000-67066400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:67065000-67066800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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