Variant report

Variant	rs60560198
Chromosome Location	chr8:121066273-121066274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121062026..121064422-chr8:121066001..121067878,2	K562	blood:

Variant related genes	Relation type
ENSG00000254343	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16892894	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893456	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893464	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16893520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61424529	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7010834	0.84[AFR][1000 genomes]
rs73704214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
3	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
6	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
7	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
10	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
13	chr8:121062400-121066800	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121062400-121073000	Weak transcription	Fetal Intestine Large	intestine
15	chr8:121062600-121069800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:121062600-121072600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121063000-121072600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:121063000-121072800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:121063000-121073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:121064200-121066400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:121064200-121074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:121064400-121069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:121064400-121072800	Weak transcription	Liver	Liver
24	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:121064600-121070000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:121064600-121070400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:121064600-121070400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:121064600-121072800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:121065800-121073000	Weak transcription	Fetal Intestine Small	intestine
32	chr8:121066200-121066400	ZNF genes & repeats	Gastric	stomach
33	chr8:121066200-121069600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:121066200-121072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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