Variant report

Variant	rs16932527
Chromosome Location	chr8:67031642-67031643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67024509..67028261-chr8:67030729..67035819,11	K562	blood:
2	chr8:67025210..67028035-chr8:67030622..67035335,5	K562	blood:
3	chr8:67030286..67032374-chr8:67034685..67037786,3	K562	blood:
4	chr8:67029942..67032233-chr8:67040282..67042706,2	MCF-7	breast:
5	chr8:67026046..67028476-chr8:67029113..67032451,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253190	Chromatin interaction

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	1.00[EUR][1000 genomes]
rs10099957	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104916	1.00[EUR][1000 genomes]
rs10107870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113208	0.83[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[EUR][1000 genomes]
rs11990370	0.97[EUR][1000 genomes]
rs11997416	1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs16932535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932564	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	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542552	0.93[AFR][1000 genomes];0.92[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]
rs56394731	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472254	1.00[EUR][1000 genomes]
rs6472255	1.00[EUR][1000 genomes]
rs6472256	1.00[EUR][1000 genomes]
rs6472257	0.97[EUR][1000 genomes]
rs6990624	1.00[EUR][1000 genomes]
rs6996265	1.00[EUR][1000 genomes]
rs6998761	1.00[EUR][1000 genomes]
rs6999780	0.97[EUR][1000 genomes]
rs7003017	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003450	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006903	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008244	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013524	0.97[EUR][1000 genomes]
rs7816410	0.97[EUR][1000 genomes]
rs7818902	1.00[EUR][1000 genomes]
rs7820617	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822243	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	1.00[EUR][1000 genomes]
rs7827407	1.00[EUR][1000 genomes]
rs7828111	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830926	1.00[EUR][1000 genomes]
rs7831234	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838500	1.00[EUR][1000 genomes]
rs7842707	1.00[EUR][1000 genomes]
rs7842761	1.00[EUR][1000 genomes]
rs7843038	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843605	1.00[EUR][1000 genomes]
rs7846184	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694082	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67026200-67032600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67027200-67032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:67027200-67032200	Weak transcription	Left Ventricle	heart
4	chr8:67027200-67035800	Weak transcription	Psoas Muscle	Psoas
5	chr8:67027200-67036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:67027200-67036200	Weak transcription	Right Ventricle	heart
7	chr8:67027400-67032200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:67027400-67032600	Weak transcription	Hela-S3	cervix
9	chr8:67027400-67035600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:67027600-67032400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:67027800-67032200	Weak transcription	NH-A	brain
12	chr8:67027800-67033800	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:67028000-67031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:67028000-67031800	Weak transcription	NHEK	skin
16	chr8:67028000-67032000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr8:67028000-67032200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:67028000-67032400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:67028000-67032600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:67028000-67032600	Weak transcription	Placenta	Placenta
21	chr8:67028000-67032800	Weak transcription	Adipose Nuclei	Adipose
22	chr8:67028000-67032800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:67028000-67033600	Weak transcription	HUVEC	blood vessel
24	chr8:67028000-67034200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:67028000-67036400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:67028200-67031800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:67028200-67032200	Weak transcription	NHDF-Ad	bronchial
28	chr8:67028200-67032800	Weak transcription	Liver	Liver
29	chr8:67028200-67033200	Weak transcription	GM12878-XiMat	blood
30	chr8:67028200-67033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:67028200-67036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:67030400-67031800	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:67030600-67031800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:67030600-67031800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:67030600-67031800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:67030600-67031800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:67030600-67032000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:67030600-67032000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:67030600-67032000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:67030600-67032200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:67030600-67032800	Enhancers	A549	lung
42	chr8:67030600-67034000	Enhancers	K562	blood
43	chr8:67030600-67034800	Enhancers	HSMM	muscle
44	chr8:67030800-67031800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:67030800-67033000	Enhancers	Fetal Heart	heart
46	chr8:67030800-67033200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr8:67030800-67034200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:67031000-67031800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:67031000-67034200	Enhancers	HSMMtube	muscle
50	chr8:67031000-67034600	Enhancers	HMEC	breast

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