Variant report

Variant	rs55686856
Chromosome Location	chr8:131382456-131382457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131381097..131383517-chr8:131384133..131386765,3	K562	blood:
2	chr8:131380161..131384136-chr8:131384406..131387200,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16904265	1.00[EUR][1000 genomes]
rs16904266	1.00[EUR][1000 genomes]
rs55637017	0.91[EUR][1000 genomes]
rs55642195	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55692599	0.91[EUR][1000 genomes]
rs55758693	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55759431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55867508	0.91[EUR][1000 genomes]
rs55871312	0.91[EUR][1000 genomes]
rs55891945	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55961633	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	0.91[EUR][1000 genomes]
rs55979731	0.91[EUR][1000 genomes]
rs56194038	0.87[AMR][1000 genomes]
rs56241132	0.91[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56313701	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56323699	1.00[EUR][1000 genomes]
rs56336751	1.00[EUR][1000 genomes]
rs56349599	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56385215	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405390	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6993944	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994242	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998031	0.91[EUR][1000 genomes]
rs7004723	0.91[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7462977	1.00[EUR][1000 genomes]
rs7815532	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	0.91[EUR][1000 genomes]
rs7836688	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
2	chr8:131371600-131383800	Weak transcription	Ovary	ovary
3	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
6	chr8:131371800-131382800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:131371800-131384400	Weak transcription	Brain Germinal Matrix	brain
8	chr8:131371800-131389800	Weak transcription	Fetal Stomach	stomach
9	chr8:131371800-131390800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:131371800-131396400	Weak transcription	HepG2	liver
11	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
12	chr8:131373800-131387400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:131373800-131389600	Weak transcription	Placenta	Placenta
14	chr8:131374600-131384200	Weak transcription	Fetal Brain Male	brain
15	chr8:131374600-131390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
17	chr8:131377400-131390600	Weak transcription	Left Ventricle	heart
18	chr8:131377600-131382600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131377600-131383600	Weak transcription	Right Atrium	heart
20	chr8:131378800-131387800	Weak transcription	HMEC	breast
21	chr8:131378800-131388000	Weak transcription	Hela-S3	cervix
22	chr8:131379000-131382600	Weak transcription	HUVEC	blood vessel
23	chr8:131379000-131384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:131379000-131387800	Weak transcription	HSMM	muscle
25	chr8:131379200-131383800	Weak transcription	Adipose Nuclei	Adipose
26	chr8:131379800-131383600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:131380200-131383800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:131380400-131388200	Weak transcription	NH-A	brain
29	chr8:131380600-131382600	Strong transcription	A549	lung
30	chr8:131380600-131382800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:131380600-131388000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr8:131380800-131383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:131380800-131387200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:131381000-131382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:131381200-131383800	Weak transcription	Osteobl	bone
37	chr8:131381200-131386600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:131381400-131382600	Weak transcription	NHDF-Ad	bronchial
39	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:131381600-131384400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:131381800-131383600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131382000-131382600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:131382000-131382600	ZNF genes & repeats	Lung	lung
44	chr8:131382000-131382800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:131382000-131382800	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:131382000-131382800	Strong transcription	NHEK	skin
47	chr8:131382000-131382800	Strong transcription	NHLF	lung
48	chr8:131382000-131383800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:131382000-131384800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:131382000-131388000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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