Variant report

Variant	rs7018154
Chromosome Location	chr8:54893121-54893122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54867998..54869976-chr8:54891193..54893956,2	K562	blood:
2	chr8:54877707..54880329-chr8:54891342..54894324,2	K562	blood:
3	chr8:54884612..54888369-chr8:54890903..54894634,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.86[AFR][1000 genomes];0.91[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]
rs59549579	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709944	1.00[EUR][1000 genomes]
rs60834806	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7001356	0.86[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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818005	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
2	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
4	chr8:54868200-54895600	Weak transcription	Brain Angular Gyrus	brain
5	chr8:54871400-54898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
7	chr8:54872800-54898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:54873000-54895600	Weak transcription	Colonic Mucosa	Colon
9	chr8:54873400-54893600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:54873600-54894600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:54873600-54898000	Weak transcription	Brain Substantia Nigra	brain
12	chr8:54873800-54897400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:54873800-54897800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:54873800-54899800	Weak transcription	Right Ventricle	heart
15	chr8:54874000-54896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54874000-54898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54874000-54898000	Weak transcription	Aorta	Aorta
18	chr8:54874400-54895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:54874400-54897200	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:54875800-54898000	Weak transcription	Small Intestine	intestine
21	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
22	chr8:54877600-54898000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:54878000-54896000	Weak transcription	Lung	lung
24	chr8:54878000-54898000	Weak transcription	Spleen	Spleen
25	chr8:54878400-54894000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:54879000-54898000	Weak transcription	HSMMtube	muscle
27	chr8:54879200-54898200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:54880400-54906600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:54880600-54898000	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:54881200-54899800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:54881400-54903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:54881800-54896000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:54883000-54895400	Weak transcription	HMEC	breast
38	chr8:54885000-54894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:54885600-54893600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:54887800-54893800	Strong transcription	Dnd41	blood
41	chr8:54887800-54895800	Strong transcription	Primary B cells from cord blood	blood
42	chr8:54887800-54897000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr8:54887800-54898000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:54887800-54901600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:54888000-54893600	Genic enhancers	A549	lung
48	chr8:54888000-54897800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:54888000-54903800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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