Variant report

Variant	rs59549579
Chromosome Location	chr8:54933685-54933686
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
4	chr8:54929135..54934459-chr8:55011274..55016367,7	K562	blood:
5	chr8:54933199..54936694-chr8:55047814..55049965,3	K562	blood:
6	chr8:54899078..54901303-chr8:54931244..54934045,2	K562	blood:
7	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:
8	chr8:54754942..54758152-chr8:54933404..54936388,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction
ENSG00000137547	Chromatin interaction
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs60834806	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7001356	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018154	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818005	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54932000-54933800	Weak transcription	Spleen	Spleen
2	chr8:54932200-54935600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:54932200-54936000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr8:54932400-54933800	Enhancers	Stomach Mucosa	stomach
5	chr8:54932400-54935600	Active TSS	Right Atrium	heart
6	chr8:54932400-54935800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:54932400-54936000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:54932600-54933800	Flanking Active TSS	HUVEC	blood vessel
9	chr8:54932600-54934000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr8:54932600-54934000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:54932600-54935600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:54932600-54935600	Active TSS	Ovary	ovary
13	chr8:54932600-54935600	Active TSS	Stomach Smooth Muscle	stomach
14	chr8:54932800-54933800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:54932800-54933800	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr8:54932800-54933800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr8:54932800-54933800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr8:54932800-54934000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:54932800-54935200	Active TSS	GM12878-XiMat	blood
20	chr8:54932800-54935400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:54932800-54935400	Active TSS	HSMMtube	muscle
22	chr8:54932800-54935600	Active TSS	NH-A	brain
23	chr8:54933000-54934000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr8:54933000-54934000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:54933000-54934000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:54933000-54934000	Flanking Active TSS	Liver	Liver
27	chr8:54933000-54934000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr8:54933000-54934000	Flanking Active TSS	Fetal Brain Female	brain
29	chr8:54933000-54934000	Flanking Active TSS	Fetal Heart	heart
30	chr8:54933000-54934000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr8:54933000-54934200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr8:54933000-54934400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr8:54933000-54934400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr8:54933000-54935600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:54933000-54935600	Active TSS	Aorta	Aorta
36	chr8:54933000-54935800	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr8:54933200-54933800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:54933200-54933800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:54933200-54933800	Flanking Active TSS	Fetal Brain Male	brain
40	chr8:54933200-54933800	Flanking Active TSS	Fetal Stomach	stomach
41	chr8:54933200-54934000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr8:54933200-54934000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:54933200-54934000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr8:54933200-54934000	Flanking Active TSS	Thymus	Thymus
45	chr8:54933200-54934200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr8:54933200-54935200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:54933200-54935400	Active TSS	NHLF	lung
48	chr8:54933200-54935600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:54933200-54935600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:54933200-54935600	Active TSS	Breast Myoepithelial Primary Cells	Breast

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