Variant report

Variant	rs28557066
Chromosome Location	chr8:67425579-67425580
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
2	chr8:67385971..67387776-chr8:67424804..67426337,2	MCF-7	breast:
3	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
4	chr8:67424749..67427225-chr8:67428836..67431636,2	K562	blood:
5	chr8:67398115..67399973-chr8:67424030..67426495,2	MCF-7	breast:
6	chr8:67424694..67427156-chr8:67976156..67978565,3	MCF-7	breast:
7	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
8	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
9	chr8:67370581..67378448-chr8:67424626..67427789,7	MCF-7	breast:
10	chr8:67424323..67425873-chr8:67625321..67626734,5	MCF-7	breast:
11	chr8:67424158..67425815-chr8:67434087..67435662,5	MCF-7	breast:
12	chr8:67424552..67425654-chr8:67434384..67435380,10	MCF-7	breast:
13	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
14	chr8:67424259..67425739-chr8:67434384..67435598,12	MCF-7	breast:
15	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
16	chr8:67425103..67425812-chr8:67434842..67435368,2	MCF-7	breast:
17	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169085	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000104205	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10095700	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12541034	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12545198	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12545483	0.83[ASN][1000 genomes]
rs12547731	0.80[ASN][1000 genomes]
rs16932940	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16932942	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2004791	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34089487	0.88[AMR][1000 genomes]
rs6995972	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs736458	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs746789	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][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	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67420000-67427600	Weak transcription	Liver	Liver
3	chr8:67420600-67425600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr8:67421000-67426000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:67423200-67427200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:67423200-67427800	Enhancers	Fetal Heart	heart
7	chr8:67423400-67425800	Genic enhancers	Brain Cingulate Gyrus	brain
8	chr8:67423600-67426000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:67423800-67425800	Enhancers	Brain Hippocampus Middle	brain
11	chr8:67423800-67426200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:67423800-67426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:67423800-67426600	Enhancers	HSMM	muscle
14	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:67424000-67426600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:67424200-67425600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:67424400-67425600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:67424400-67425600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:67424400-67425600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr8:67424400-67425600	Enhancers	Left Ventricle	heart
21	chr8:67424400-67425800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:67424400-67425800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:67424400-67425800	Enhancers	Pancreas	Pancrea
24	chr8:67424400-67425800	Enhancers	NHDF-Ad	bronchial
25	chr8:67424400-67426000	Enhancers	Right Ventricle	heart
26	chr8:67424400-67426000	Enhancers	GM12878-XiMat	blood
27	chr8:67424400-67426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:67424400-67426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:67424400-67426600	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:67424400-67426600	Bivalent Enhancer	Placenta	Placenta
31	chr8:67424400-67426600	Enhancers	NH-A	brain
32	chr8:67424600-67425600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:67424600-67425600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr8:67424600-67425800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:67424600-67426000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr8:67424600-67426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr8:67424600-67426400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67424600-67427400	Enhancers	Fetal Lung	lung
39	chr8:67425000-67425600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:67425000-67425600	Weak transcription	Fetal Brain Female	brain
41	chr8:67425000-67425800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:67425000-67425800	Enhancers	Brain Substantia Nigra	brain
43	chr8:67425000-67426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:67425000-67426400	Genic enhancers	Brain Angular Gyrus	brain
45	chr8:67425000-67429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:67425000-67430000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:67425200-67425600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:67425200-67425600	Enhancers	A549	lung
49	chr8:67425200-67425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr8:67425200-67425800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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