Variant report

Variant	rs56394731
Chromosome Location	chr8:67050016-67050017
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67041475..67043623-chr8:67049096..67052044,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10081623	0.97[EUR][1000 genomes]
rs10091625	0.97[EUR][1000 genomes]
rs10093091	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099957	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104916	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10107870	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109602	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113208	0.87[AFR][1000 genomes]
rs10448012	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1044938	0.97[EUR][1000 genomes]
rs1044942	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10957367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11986216	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990370	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11997416	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs16932527	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932535	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932564	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932632	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1814583	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28421720	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542552	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703095	0.97[EUR][1000 genomes]
rs3176921	1.00[EUR][1000 genomes]
rs4279579	0.96[EUR][1000 genomes]
rs4503082	1.00[EUR][1000 genomes]
rs5030877	1.00[EUR][1000 genomes]
rs6472252	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472254	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472255	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472256	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472257	0.97[EUR][1000 genomes]
rs6990624	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996265	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998761	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999780	0.97[EUR][1000 genomes]
rs7003017	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003450	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006903	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008244	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013524	0.97[EUR][1000 genomes]
rs7816410	0.97[EUR][1000 genomes]
rs7818902	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820617	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822243	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823304	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826464	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827407	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7828111	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830926	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7831234	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838125	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842707	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7842761	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843038	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843605	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846184	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694082	0.81[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:67044000-67057800	Weak transcription	Liver	Liver
3	chr8:67046600-67051200	Weak transcription	A549	lung
4	chr8:67047000-67052000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:67047200-67050400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:67047600-67050200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:67047600-67055000	Genic enhancers	HSMMtube	muscle
8	chr8:67047800-67050400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:67048000-67050200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:67048400-67050400	Genic enhancers	HSMM	muscle
11	chr8:67048600-67050800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:67048800-67053000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:67049000-67050600	Enhancers	NHDF-Ad	bronchial
14	chr8:67049000-67052000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:67049000-67052800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr8:67049200-67050400	Enhancers	NH-A	brain
17	chr8:67049200-67050400	Enhancers	NHLF	lung
18	chr8:67049200-67050400	Enhancers	Osteobl	bone
19	chr8:67049400-67050200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:67049400-67050400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:67049400-67052000	Enhancers	Psoas Muscle	Psoas
22	chr8:67049400-67053800	Enhancers	Left Ventricle	heart
23	chr8:67049600-67050200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:67049600-67050200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr8:67049600-67051400	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:67049600-67051800	Enhancers	Fetal Heart	heart
27	chr8:67049800-67050200	Weak transcription	Right Atrium	heart
28	chr8:67049800-67052800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:67049800-67055800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:67050000-67051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:67050000-67051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:67050000-67051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:67050000-67052600	Weak transcription	Right Ventricle	heart

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