Variant report

Variant	rs56894994
Chromosome Location	chr8:54916507-54916508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54915010..54916842-chr8:54933448..54935497,2	MCF-7	breast:
2	chr8:54914226..54918426-chr8:54921603..54924187,3	K562	blood:
3	chr8:54749643..54751266-chr8:54916287..54918590,2	K562	blood:
4	chr8:54915675..54917634-chr8:54921382..54924187,2	K562	blood:
5	chr8:54916240..54919178-chr8:54929499..54931994,2	K562	blood:
6	chr8:54914380..54917012-chr8:54932439..54934491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10101967	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	1.00[AMR][1000 genomes]
rs28437156	1.00[AMR][1000 genomes]
rs28452332	1.00[AMR][1000 genomes]
rs28489512	1.00[AMR][1000 genomes]
rs28575670	1.00[AMR][1000 genomes]
rs28620338	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28813536	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.85[AFR][1000 genomes];1.00[AMR][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
3	chr8:54899000-54916600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:54899000-54916600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:54899800-54918200	Weak transcription	Small Intestine	intestine
7	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
11	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
12	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
13	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
18	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
19	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:54904400-54918200	Strong transcription	K562	blood
23	chr8:54905200-54917200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:54905400-54922400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:54905400-54926600	Weak transcription	Ovary	ovary
26	chr8:54905600-54922000	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:54905800-54918400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:54906000-54918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:54908200-54926800	Weak transcription	Osteobl	bone
30	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
31	chr8:54908800-54919200	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:54909000-54916600	Weak transcription	Left Ventricle	heart
33	chr8:54909000-54917400	Weak transcription	Brain Angular Gyrus	brain
34	chr8:54909000-54921800	Weak transcription	Fetal Heart	heart
35	chr8:54909000-54923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:54909000-54928800	Weak transcription	Gastric	stomach
37	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
38	chr8:54909000-54931800	Weak transcription	Lung	lung
39	chr8:54909200-54916800	Weak transcription	Fetal Lung	lung
40	chr8:54909200-54922000	Weak transcription	NHDF-Ad	bronchial
41	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:54909600-54923800	Weak transcription	Psoas Muscle	Psoas
44	chr8:54909800-54928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:54910400-54920200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:54910400-54921600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
48	chr8:54910600-54924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:54910600-54926600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:54910800-54917600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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