Variant report

Variant	rs55918561
Chromosome Location	chr8:48423165-48423166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48421398..48423203-chr8:48423816..48426679,2	K562	blood:
2	chr8:48416787..48427648-chr8:48644938..48653304,27	MCF-7	breast:
3	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
ENSG00000221869	Chromatin interaction
ENSG00000253330	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10107926	0.91[EUR][1000 genomes]
rs10481296	0.91[EUR][1000 genomes]
rs12216833	0.96[EUR][1000 genomes]
rs1552667	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16927307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55841214	0.96[EUR][1000 genomes]
rs56107210	0.98[EUR][1000 genomes]
rs56391539	0.96[EUR][1000 genomes]
rs58828084	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6472453	0.83[EUR][1000 genomes]
rs6989958	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992139	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7011833	0.87[EUR][1000 genomes]
rs72644585	0.88[EUR][1000 genomes]
rs72644587	0.83[EUR][1000 genomes]
rs72644597	0.96[EUR][1000 genomes]
rs72644602	0.94[EUR][1000 genomes]
rs72646317	0.88[EUR][1000 genomes]
rs72646321	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646324	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646330	0.89[EUR][1000 genomes]
rs72646348	1.00[EUR][1000 genomes]
rs72646350	1.00[EUR][1000 genomes]
rs7822371	0.91[EUR][1000 genomes]
rs7829543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834901	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839055	0.91[EUR][1000 genomes]
rs9643810	0.84[EUR][1000 genomes]
rs9650144	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48397600-48426400	Weak transcription	Aorta	Aorta
2	chr8:48398800-48423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:48410600-48424000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:48411600-48424000	Weak transcription	Fetal Kidney	kidney
5	chr8:48411800-48423400	Weak transcription	A549	lung
6	chr8:48411800-48423400	Weak transcription	Hela-S3	cervix
7	chr8:48411800-48423800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:48416800-48423800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:48418400-48423600	Weak transcription	Fetal Stomach	stomach
10	chr8:48418400-48424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:48418600-48423400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:48419600-48423400	Weak transcription	Gastric	stomach
14	chr8:48420000-48423400	Weak transcription	HSMMtube	muscle
15	chr8:48420200-48423400	Weak transcription	Ovary	ovary
16	chr8:48420200-48426400	Weak transcription	Esophagus	oesophagus
17	chr8:48420400-48425000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:48420600-48424000	Weak transcription	NH-A	brain
19	chr8:48420600-48424600	Weak transcription	HMEC	breast
20	chr8:48420600-48424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:48420600-48425000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:48420800-48423400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:48420800-48423400	Weak transcription	Right Ventricle	heart
24	chr8:48420800-48423400	Weak transcription	NHLF	lung
25	chr8:48420800-48424200	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:48420800-48424400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:48420800-48424800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:48420800-48425400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:48420800-48426000	Weak transcription	Primary T cells from cord blood	blood
30	chr8:48421000-48423600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:48421000-48424400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:48421000-48424800	Weak transcription	Stomach Mucosa	stomach
33	chr8:48421200-48424600	Weak transcription	NHEK	skin
34	chr8:48421200-48426000	Weak transcription	K562	blood
35	chr8:48421800-48423800	Weak transcription	Psoas Muscle	Psoas
36	chr8:48421800-48424200	Strong transcription	Dnd41	blood
37	chr8:48421800-48424600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:48421800-48435200	Weak transcription	Primary B cells from cord blood	blood
39	chr8:48422000-48423400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:48422000-48423400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:48422000-48423400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:48422000-48423400	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:48422000-48423600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:48422000-48423600	Weak transcription	Small Intestine	intestine
45	chr8:48422000-48424200	Weak transcription	Fetal Intestine Large	intestine
46	chr8:48422000-48434800	Weak transcription	Fetal Thymus	thymus
47	chr8:48422200-48423400	Weak transcription	Adipose Nuclei	Adipose
48	chr8:48422200-48424000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:48422200-48424400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:48422200-48425000	Weak transcription	Primary T cells fromperipheralblood	blood

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