Variant report

Variant	rs13340553
Chromosome Location	chr8:124668886-124668887
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124661695..124666565-chr8:124667806..124672490,5	MCF-7	breast:
2	chr8:124668534..124670111-chr8:124695984..124698883,2	K562	blood:
3	chr8:124656327..124658581-chr8:124667209..124669646,2	MCF-7	breast:
4	chr8:124662032..124665488-chr8:124668654..124670370,3	MCF-7	breast:
5	chr8:124668666..124670546-chr8:124672499..124675168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11997295	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28377815	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34123325	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34218333	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3891281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4242343	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4242344	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4449770	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4618676	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4870863	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871404	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4871406	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55714811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56123029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6982035	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7461069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
3	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124666200-124669400	Weak transcription	HMEC	breast
5	chr8:124666200-124669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:124666400-124669200	Weak transcription	NHEK	skin
8	chr8:124666400-124669600	Weak transcription	NH-A	brain
9	chr8:124666400-124669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
11	chr8:124666600-124669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124666800-124670000	Weak transcription	HSMM	muscle
13	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:124667000-124670000	Weak transcription	NHLF	lung
15	chr8:124667000-124670200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:124667400-124669400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:124667400-124671400	Enhancers	Colon Smooth Muscle	Colon
18	chr8:124667600-124669600	Weak transcription	Fetal Intestine Small	intestine
19	chr8:124667600-124669600	Weak transcription	Right Atrium	heart
20	chr8:124667600-124670000	Weak transcription	HSMMtube	muscle
21	chr8:124667600-124670200	Weak transcription	Brain Angular Gyrus	brain
22	chr8:124667600-124670200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:124667600-124670200	Weak transcription	Fetal Brain Male	brain
24	chr8:124667600-124670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:124667800-124669600	Weak transcription	Aorta	Aorta
26	chr8:124667800-124669600	Weak transcription	HepG2	liver
27	chr8:124667800-124669800	Weak transcription	Placenta	Placenta
28	chr8:124667800-124670000	Weak transcription	NHDF-Ad	bronchial
29	chr8:124667800-124670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:124668000-124669000	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:124668000-124669400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:124668000-124669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:124668000-124669600	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:124668000-124669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:124668000-124670000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:124668200-124669400	Weak transcription	Osteobl	bone
37	chr8:124668200-124669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:124668200-124669800	Weak transcription	Colonic Mucosa	Colon
39	chr8:124668200-124669800	Weak transcription	Lung	lung
40	chr8:124668200-124670000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:124668200-124671000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:124668200-124671200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:124668200-124673200	Weak transcription	Esophagus	oesophagus
44	chr8:124668200-124673600	Weak transcription	Pancreas	Pancrea
45	chr8:124668400-124669600	Weak transcription	Fetal Intestine Large	intestine
46	chr8:124668400-124669800	Weak transcription	Left Ventricle	heart
47	chr8:124668400-124670000	Weak transcription	Ovary	ovary
48	chr8:124668400-124680800	Weak transcription	Fetal Heart	heart
49	chr8:124668800-124669400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr8:124668800-124669600	Weak transcription	Psoas Muscle	Psoas

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