Variant report

Variant	rs10109602
Chromosome Location	chr8:67045978-67045979
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67044508..67046368-chr8:67048019..67049856,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10081623	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10091625	0.97[EUR][1000 genomes]
rs10093091	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs10099957	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104916	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10107870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113208	0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs10448012	0.97[EUR][1000 genomes]
rs1044938	0.97[EUR][1000 genomes]
rs1044942	0.97[EUR][1000 genomes]
rs10957367	0.87[EUR][1000 genomes]
rs11986216	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11990370	0.97[EUR][1000 genomes]
rs11997416	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs12334408	0.85[GIH][hapmap]
rs16932527	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932535	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932564	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932632	0.97[EUR][1000 genomes]
rs1814583	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28421720	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542552	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703095	0.97[EUR][1000 genomes]
rs3176921	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4279579	0.96[EUR][1000 genomes]
rs4495409	0.85[GIH][hapmap]
rs4503082	1.00[EUR][1000 genomes]
rs5030877	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs56394731	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472244	0.83[GIH][hapmap]
rs6472251	0.85[GIH][hapmap]
rs6472252	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472254	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6472255	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6472256	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6472257	0.87[CEU][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes]
rs6982394	0.83[GIH][hapmap]
rs6986947	0.83[GIH][hapmap]
rs6990486	0.83[GIH][hapmap]
rs6990624	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6996265	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs6998258	0.83[GIH][hapmap]
rs6998761	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6999780	0.87[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs7003017	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003450	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006209	0.83[GIH][hapmap]
rs7006903	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008244	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013524	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7816410	0.97[EUR][1000 genomes]
rs7818902	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7820617	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822243	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7823108	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823304	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826464	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7827407	1.00[EUR][1000 genomes]
rs7828111	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830926	1.00[EUR][1000 genomes]
rs7831234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834423	0.85[GIH][hapmap]
rs7838125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838500	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7842707	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7842761	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7843038	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843605	0.87[CEU][hapmap];1.00[EUR][1000 genomes]
rs7846184	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694082	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67036800-67046400	Enhancers	NHLF	lung
2	chr8:67036800-67047000	Enhancers	NHDF-Ad	bronchial
3	chr8:67036800-67047200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:67039000-67048800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:67040200-67050000	Enhancers	Adipose Nuclei	Adipose
6	chr8:67040400-67046400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:67041000-67046200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:67042400-67047200	Enhancers	Fetal Muscle Leg	muscle
9	chr8:67042600-67069200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:67042800-67046000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:67043400-67047400	Genic enhancers	HSMM	muscle
12	chr8:67043600-67046400	Genic enhancers	Muscle Satellite Cultured Cells	--
13	chr8:67043800-67046200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:67044000-67049200	Weak transcription	Right Atrium	heart
15	chr8:67044000-67057800	Weak transcription	Liver	Liver
16	chr8:67044200-67049800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:67044400-67046200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:67044400-67046200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:67044600-67046000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:67044600-67046000	Enhancers	HMEC	breast
21	chr8:67044600-67046000	Enhancers	NHEK	skin
22	chr8:67044600-67046800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:67044800-67046000	Enhancers	Placenta	Placenta
24	chr8:67044800-67046000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr8:67044800-67046200	Enhancers	NH-A	brain
26	chr8:67045000-67046800	Enhancers	HSMMtube	muscle
27	chr8:67045400-67046400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:67045400-67049400	Weak transcription	Psoas Muscle	Psoas
29	chr8:67045600-67046000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:67045600-67047000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:67045600-67047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:67045600-67047000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:67045600-67047200	Weak transcription	Left Ventricle	heart
34	chr8:67045600-67047200	Weak transcription	Right Ventricle	heart
35	chr8:67045600-67049200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:67045600-67049400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:67045800-67046400	Transcr. at gene 5' and 3'	Fetal Heart	heart
38	chr8:67045800-67046600	Enhancers	A549	lung
39	chr8:67045800-67046800	Enhancers	Osteobl	bone
40	chr8:67045800-67049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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